A group of inherited and sporadic disorders which share progressive ataxia in combination with atrophy of the CEREBELLUM; PONS; and inferior olivary nuclei. Additional clinical features may include MUSCLE RIGIDITY; NYSTAGMUS, PATHOLOGIC; RETINAL DEGENERATION; MUSCLE SPASTICITY; DEMENTIA; URINARY INCONTINENCE; and OPHTHALMOPLEGIA. The familial form has an earlier onset (second decade) and may feature spinal cord atrophy. The sporadic form tends to present in the fifth or sixth decade, and is considered a clinical subtype of MULTIPLE SYSTEM ATROPHY. (From Adams et al., Principles of Neurology, 6th ed, p1085)
Incoordination of voluntary movements that occur as a manifestation of CEREBELLAR DISEASES. Characteristic features include a tendency for limb movements to overshoot or undershoot a target (dysmetria), a tremor that occurs during attempted movements (intention TREMOR), impaired force and rhythm of diadochokinesis (rapidly alternating movements), and GAIT ATAXIA. (From Adams et al., Principles of Neurology, 6th ed, p90)
A heterogenous group of degenerative syndromes marked by progressive cerebellar dysfunction either in isolation or combined with other neurologic manifestations. Sporadic and inherited subtypes occur. Inheritance patterns include autosomal dominant, autosomal recessive, and X-linked.
A sporadic neurodegenerative disease with onset in middle-age characterized clinically by Parkinsonian features (e.g., MUSCLE RIGIDITY; HYPOKINESIA; stooped posture) and HYPOTENSION. This condition is considered a clinical variant of MULTIPLE SYSTEM ATROPHY. Pathologic features include a prominent loss of neurons in the zona compacta of the SUBSTANTIA NIGRA and PUTAMEN. (From Adams et al., Principles of Neurology, 6th ed, p1075-6)
A syndrome complex composed of three conditions which represent clinical variants of the same disease process: STRIATONIGRAL DEGENERATION; SHY-DRAGER SYNDROME; and the sporadic form of OLIVOPONTOCEREBELLAR ATROPHIES. Clinical features include autonomic, cerebellar, and basal ganglia dysfunction. Pathologic examination reveals atrophy of the basal ganglia, cerebellum, pons, and medulla, with prominent loss of autonomic neurons in the brain stem and spinal cord. (From Adams et al., Principles of Neurology, 6th ed, p1076; Baillieres Clin Neurol 1997 Apr;6(1):187-204; Med Clin North Am 1999 Mar;83(2):381-92)
Decrease in the size of a cell, tissue, organ, or multiple organs, associated with a variety of pathological conditions such as abnormal cellular changes, ischemia, malnutrition, or hormonal changes.
Disorders of speech articulation caused by imperfect coordination of pharynx, larynx, tongue, or face muscles. This may result from CRANIAL NERVE DISEASES; NEUROMUSCULAR DISEASES; CEREBELLAR DISEASES; BASAL GANGLIA DISEASES; BRAIN STEM diseases; or diseases of the corticobulbar tracts (see PYRAMIDAL TRACTS). The cortical language centers are intact in this condition. (From Adams et al., Principles of Neurology, 6th ed, p489)
Diseases of the BASAL GANGLIA including the PUTAMEN; GLOBUS PALLIDUS; claustrum; AMYGDALA; and CAUDATE NUCLEUS. DYSKINESIAS (most notably involuntary movements and alterations of the rate of movement) represent the primary clinical manifestations of these disorders. Common etiologies include CEREBROVASCULAR DISORDERS; NEURODEGENERATIVE DISEASES; and CRANIOCEREBRAL TRAUMA.
NATIONAL LIBRARY OF MEDICINE service for health professionals and consumers. It links extensive information from the National Institutes of Health and other reviewed sources of information on specific diseases and conditions.
A progressive neurodegenerative condition of the central and autonomic nervous systems characterized by atrophy of the preganglionic lateral horn neurons of the thoracic spinal cord. This disease is generally considered a clinical variant of MULTIPLE SYSTEM ATROPHY. Affected individuals present in the fifth or sixth decade with ORTHOSTASIS and bladder dysfunction; and later develop FECAL INCONTINENCE; anhidrosis; ATAXIA; IMPOTENCE; and alterations of tone suggestive of basal ganglia dysfunction. (From Adams et al., Principles of Neurology, 6th ed, p536)
A synuclein that is a major component of LEWY BODIES that plays a role in neurodegeneration and neuroprotection.
A degenerative disease of the central nervous system characterized by balance difficulties; OCULAR MOTILITY DISORDERS (supranuclear ophthalmoplegia); DYSARTHRIA; swallowing difficulties; and axial DYSTONIA. Onset is usually in the fifth decade and disease progression occurs over several years. Pathologic findings include neurofibrillary degeneration and neuronal loss in the dorsal MESENCEPHALON; SUBTHALAMIC NUCLEUS; RED NUCLEUS; pallidum; dentate nucleus; and vestibular nuclei. (From Adams et al., Principles of Neurology, 6th ed, pp1076-7)
A progressive, degenerative neurologic disease characterized by a TREMOR that is maximal at rest, retropulsion (i.e. a tendency to fall backwards), rigidity, stooped posture, slowness of voluntary movements, and a masklike facial expression. Pathologic features include loss of melanin containing neurons in the substantia nigra and other pigmented nuclei of the brainstem. LEWY BODIES are present in the substantia nigra and locus coeruleus but may also be found in a related condition (LEWY BODY DISEASE, DIFFUSE) characterized by dementia in combination with varying degrees of parkinsonism. (Adams et al., Principles of Neurology, 6th ed, p1059, pp1067-75)
A medical specialty concerned with the use of physical agents, mechanical apparatus, and manipulation in rehabilitating physically diseased or injured patients.
Works containing information articles on subjects in every field of knowledge, usually arranged in alphabetical order, or a similar work limited to a special field or subject. (From The ALA Glossary of Library and Information Science, 1983)
Treatment for individuals with speech defects and disorders that involves counseling and use of various exercises and aids to help the development of new speech habits.
Skilled treatment that helps individuals achieve independence in all facets of their lives. It assists in the development of skills needed for independent living.
Acquired or developmental conditions marked by an impaired ability to comprehend or generate spoken forms of language.

Genetic factors in human sleep disorders with special reference to Norrie disease, Prader-Willi syndrome and Moebius syndrome. (1/56)

Sleep-wake problems are common in specific inborn errors of metabolism and structure of the central nervous system. Psychological factors, behavioural difficulties, metabolic disturbances, and widespread rather than focal damage to the nervous system are present in many of these diseases and all influence the sleep-wake cycle. However, a number of conditions cause relatively focal damage to the neuroanatomical substrate of sleeping and waking. These include fatal familial insomnia, with involvement of the prion protein gene on chromosome 20, Norrie disease, the Prader-Willi syndrome and the Moebius syndrome. The last three important conditions, although rare, are considered in detail in this review. They result in sensory deprivation, hypothalamic and mid-brain damage, and involve the X-chromosome, chromosome 15, and chromosome 13, respectively. These conditions cause a wide variety of sleep disturbance, including parasomnias, daytime sleepiness, and a condition like cataplexy. The place of the relevant gene products in normal sleep regulation needs further exploration.  (+info)

Early onset cerebellar ataxia with retained tendon reflexes (EOCA) and olivopontocerebellar atrophy (OPCA): a computed tomographic study. (2/56)

Computed tomographic (CT) studies in olivopontocerebellar atrophies (OPCA) and 'early onset cerebellar ataxia with retained tendon reflexes (EOCA)' are few and vary widely in methodology and criteria for cerebellar and brainstem atrophy. In this prospective study, CT scan observations on 26 patients (EOCA-11, OPCA-15) were compared with 31 controls using qualitative and quantitative assessment of cisterns, ventricles and atrophy of brain. Vermian and/or cerebellar hemispheric (predominantly anterior) atrophy was present in 80.8% and both were equally common. Cerebral cortical atrophy (26.9%) and leukoariosis (15.4%) were less frequently seen. Statistically significant atrophy of pons, brachium pontis, cerebellum and midbrain was noted in patient group. No significant differences were observed between EOCA and OPCA groups. Evidence of atrophy did not correlate with either the duration of illness or the severity of cerebellar ataxia in both the groups. The severity of brainstem atrophy in 14 patients with and 12 patients without abnormal brainstem auditory evoked response did not differ significantly. This study highlights the methodology of CT evaluation for brainstem and cerebellar atrophy, draws attention to cerebral atrophy and emphasizes the lack of significant differences in CT morphology between OPCA and EOCA patients.  (+info)

Cerebello-olivary and lateral (accessory) cuneate degeneration in a juvenile American Miniature horse. (3/56)

A 12-month-old American Miniature horse colt was presented to the Virginia Tech Veterinary Teaching Hospital with a 7-month history of progressive ataxia. Physical examination revealed a head intention tremor, base-wide stance, and ataxia. Necropsy findings were confined to the brain. There were bilateral areas of liquefactive necrosis and cavitation corresponding to the dorsal accessory olivary and lateral (accessory) cuneate nuclei. Cerebellar folia of the dorsal vermis were thin. Microscopically, the cerebellar cortex was characterized by patchy areas of Purkinje cell loss with associated variable thinning of the molecular and granule cell layers and astrogliosis. Dorsal accessory olivary and lateral cuneate nuclei were cavitated and had mild glial response around their periphery. Additionally, a focus of necrosis and neuropil vacuolization was found in the right putamen. These findings indicate the presence of a neurodegenerative disorder centered, but not confined to, the cerebellum and its connections in this American Miniature horse colt.  (+info)

Lethal olivopontoneocerebellar hypoplasia with dysmorphic features in sibs. (4/56)

This report describes the clinical and neuropathological features in male and female sibs who died shortly after birth as a result of frequent convulsions and lack of spontaneous respiratory effect. Both sibs had a prominent occiput with mild contractures and the female also had overlapping fingers and rockerbottom feet. The genetic and neuropathological findings were consistent with a diagnosis of an autosomal recessive form of olivopontoneocerebellar hypoplasia/atrophy.  (+info)

Hyperparathyroidism associated with parkinsonism. (5/56)

A 70-year-old woman with hyperparathyroidism associated with parkinsonism is reported. Her primary initial symptom was parkinsonism, but it was levodopa-resistant. Chemical and hormonal findings revealed that she had hyperparathyroidism. The symptoms were relieved after the surgical removal of a parathyroid adenoma. Although this type of case has been reported only rarely, it suggests that hypercalcemia might be an aggravating factor in levodopa-resistant parkinsonism.  (+info)

Olivopontocerebellar atrophy in two adult cats, sporadic cases or new genetic entity. (6/56)

Two otherwise healthy adult cats were presented with progressive cerebellar signs of different severity. Owners requested euthanasia. Necropsy disclosed whole cerebellum and pontine atrophy, with a severity paralleling the neurologic dysfunction. We used cell type-specific immunolabelings to characterize the lesions. The severity of the cerebellar cortex atrophy followed a general gradient from the midvermis toward the hemispheres and a local gradient from the depth of the folia toward their tip. Along these gradients, Purkinje cells were the first to disappear, followed by basket, Golgi, and stellate cells, and eventually by granule cells. Bergmann glia cells and unipolar brush cells were preserved. Pontine nuclei and the olivary complex were also severely depopulated. Neurons in the cerebellar nuclei, vestibular nuclei, and other cerebellar system-associated structures were preserved, as well as substantia nigra. Olivopontocerebellar atrophy (OPCA) in a domestic animal species was rarely reported. Some features allow tentative linking to either familial or sporadic OPCA of humans. However, the ordered disappearance of all cortical neuronal types has never been described before. Either this entity is cat specific or it might pinpoint the need for increased knowledge about differential gene expression depending on genetic background, i.e., among different species. It also would open prospects about gene product interactions within neurons.  (+info)

Thiamine status in inherited degenerative ataxias. (7/56)

Blood thiamine levels in ataxia patients were studied. No significant differences were found between 30 patients with Friedreich's ataxia and 29 patients with olivopontocerebellar atrophy (OPCA) compared with control subjects. Both OPCA and Friedreich's ataxia patients presented significantly lower cerebrospinal fluid thiamine levels than their controls (p less than 0.001 and p less than 0.04 respectively). These results, discussed in terms of the high degree of cerebellar atrophy on CT scans in OPCA v Friedreich's ataxia patients, seem to correlate with cerebellar thiamine turnover and content.  (+info)

The spectrum of pathological involvement of the striatonigral and olivopontocerebellar systems in multiple system atrophy: clinicopathological correlations. (8/56)

Multiple system atrophy (MSA) has varying clinical (MSA-P versus MSA-C) and pathological [striatonigral degeneration (SND) versus olivopontocerebellar atrophy (OPCA)] phenotypes. To investigate the spectrum of clinicopathological correlations, we performed a semi-quantitative pathological analysis of 100 MSA cases with well-characterized clinical phenotypes. In 24 areas, chosen from both the striatonigral (StrN) and olivopontocerebellar (OPC) regions, the severity of neuronal cell loss and gliosis as well as the frequency of glial (oligodendroglial) cytoplasmic inclusions (GCIs) and neuronal cytoplasmic inclusions (NCIs) were determined. Clinical information was abstracted from the patients' medical records, and the severity of bradykinesia in the first year of disease onset and in the final stages of disease was graded retrospectively. The degree of levodopa responsiveness and the presence or absence of cerebellar ataxia and autonomic symptoms were also recorded. We report that 34% of the cases were SND- and 17% were OPCA-predominant, while the remainder (49%) had equivalent SND and OPCA pathology. We found a significant correlation between the frequency of GCIs and the severity of neuronal cell loss, and between these pathological changes and disease duration. Our data also suggest that GCIs may have more influence on the OPC than on the StrN pathology. Moreover, we raise the possibility that a rapid process of neuronal cell loss, which is independent of the accumulation of GCIs, occurs in the StrN region in MSA. There was no difference in the frequency of NCIs in the putamen, pontine nucleus and inferior olivary nucleus between the SND and OPCA subtypes of MSA, confirming that this pathological abnormality is not associated with a particular subtype of the disease. In the current large post-mortem series, 10% of the cases had associated Lewy body pathology, suggesting that this is not a primary process in MSA. As might be expected, there was a significant difference in the severity of bradykinesia and the presence of cerebellar signs between the pathological phenotypes: the SND phenotype demonstrates the most severe bradykinesia and the OPCA phenotype the more frequent occurrence of cerebellar signs, confirming that the clinical phenotype is dependent on the distribution of pathology within the basal ganglia and cerebellum. Putaminal involvement correlated with a poor levodopa response in MSA. Our finding that relatively mild involvement of the substantia nigra is associated clinically with manifest parkinsonism, while more advanced cerebellar pathology is required for ataxia, may explain why the parkinsonian presentation is predominant over ataxia in MSA.  (+info)

Olivopontocerebellar atrophies (OPCA) are a group of rare, progressive neurodegenerative disorders that primarily affect the cerebellum, olive (inferior olivary nucleus), and pons in the brainstem. The condition is characterized by degeneration and atrophy of these specific areas, leading to various neurological symptoms.

The term "olivopontocerebellar atrophies" encompasses several subtypes, including:

1. Hereditary spastic paraplegia with cerebellar ataxia (SPG/ATA) - Autosomal dominant or recessive inheritance pattern.
2. Hereditary dentatorubral-pallidoluysian atrophy (DRPLA) - Autosomal dominant inheritance pattern.
3. Idiopathic OPCA - No known genetic cause, possibly related to environmental factors or spontaneous mutations.

Symptoms of olivopontocerebellar atrophies may include:

* Progressive cerebellar ataxia (gait and limb incoordination)
* Dysarthria (slurred speech)
* Oculomotor abnormalities (nystagmus, gaze palsy)
* Spasticity (stiffness and rigidity of muscles)
* Dysphagia (difficulty swallowing)
* Tremors or dystonia (involuntary muscle contractions)

Diagnosis typically involves a combination of clinical examination, neuroimaging studies (MRI), genetic testing, and exclusion of other possible causes. Currently, there is no cure for olivopontocerebellar atrophies, but supportive care can help manage symptoms and improve quality of life.

Cerebellar ataxia is a type of ataxia, which refers to a group of disorders that cause difficulties with coordination and movement. Cerebellar ataxia specifically involves the cerebellum, which is the part of the brain responsible for maintaining balance, coordinating muscle movements, and regulating speech and eye movements.

The symptoms of cerebellar ataxia may include:

* Unsteady gait or difficulty walking
* Poor coordination of limb movements
* Tremors or shakiness, especially in the hands
* Slurred or irregular speech
* Abnormal eye movements, such as nystagmus (rapid, involuntary movement of the eyes)
* Difficulty with fine motor tasks, such as writing or buttoning a shirt

Cerebellar ataxia can be caused by a variety of underlying conditions, including:

* Genetic disorders, such as spinocerebellar ataxia or Friedreich's ataxia
* Brain injury or trauma
* Stroke or brain hemorrhage
* Infections, such as meningitis or encephalitis
* Exposure to toxins, such as alcohol or certain medications
* Tumors or other growths in the brain

Treatment for cerebellar ataxia depends on the underlying cause. In some cases, there may be no cure, and treatment is focused on managing symptoms and improving quality of life. Physical therapy, occupational therapy, and speech therapy can help improve coordination, balance, and communication skills. Medications may also be used to treat specific symptoms, such as tremors or muscle spasticity. In some cases, surgery may be recommended to remove tumors or repair damage to the brain.

Spinocerebellar degenerations (SCDs) are a group of genetic disorders that primarily affect the cerebellum, the part of the brain responsible for coordinating muscle movements, and the spinal cord. These conditions are characterized by progressive degeneration or loss of nerve cells in the cerebellum and/or spinal cord, leading to various neurological symptoms.

SCDs are often inherited in an autosomal dominant manner, meaning that only one copy of the altered gene from either parent is enough to cause the disorder. The most common type of SCD is spinocerebellar ataxia (SCA), which includes several subtypes (SCA1, SCA2, SCA3, etc.) differentiated by their genetic causes and specific clinical features.

Symptoms of spinocerebellar degenerations may include:

1. Progressive ataxia (loss of coordination and balance)
2. Dysarthria (speech difficulty)
3. Nystagmus (involuntary eye movements)
4. Oculomotor abnormalities (problems with eye movement control)
5. Tremors or other involuntary muscle movements
6. Muscle weakness and spasticity
7. Sensory disturbances, such as numbness or tingling sensations
8. Dysphagia (difficulty swallowing)
9. Cognitive impairment in some cases

The age of onset, severity, and progression of symptoms can vary significantly among different SCD subtypes and individuals. Currently, there is no cure for spinocerebellar degenerations, but various supportive treatments and therapies can help manage symptoms and improve quality of life.

Striatonigral degeneration (SND) is a type of neurodegenerative disorder that affects the basal ganglia, specifically the striatum and the substantia nigra. It is also known as "striatonigral degeneration with olivopontocerebellar atrophy" or "multiple system atrophy-parkinsonian type (MSA-P)".

SND is characterized by the progressive loss of nerve cells in the striatum, which receives input from the cerebral cortex and sends output to the substantia nigra. This results in a decrease in the neurotransmitter dopamine, leading to symptoms similar to those seen in Parkinson's disease (PD), such as stiffness, slowness of movement, rigidity, and tremors.

However, unlike PD, SND is also associated with degeneration of the olivopontocerebellar system, which can lead to additional symptoms such as ataxia, dysarthria, and oculomotor abnormalities. The exact cause of striatonigral degeneration is unknown, but it is believed to involve a combination of genetic and environmental factors. Currently, there is no cure for the condition, and treatment is focused on managing the symptoms.

Multiple System Atrophy (MSA) is a rare, progressive neurodegenerative disorder that affects multiple systems in the body. It is characterized by a combination of symptoms including Parkinsonism (such as stiffness, slowness of movement, and tremors), cerebellar ataxia (lack of muscle coordination), autonomic dysfunction (problems with the autonomic nervous system which controls involuntary actions like heart rate, blood pressure, sweating, and digestion), and pyramidal signs (abnormalities in the corticospinal tracts that control voluntary movements).

The disorder is caused by the degeneration of nerve cells in various parts of the brain and spinal cord, leading to a loss of function in these areas. The exact cause of MSA is unknown, but it is thought to involve a combination of genetic and environmental factors. There is currently no cure for MSA, and treatment is focused on managing symptoms and improving quality of life.

Atrophy is a medical term that refers to the decrease in size and wasting of an organ or tissue due to the disappearance of cells, shrinkage of cells, or decreased number of cells. This process can be caused by various factors such as disuse, aging, degeneration, injury, or disease.

For example, if a muscle is immobilized for an extended period, it may undergo atrophy due to lack of use. Similarly, certain medical conditions like diabetes, cancer, and heart failure can lead to the wasting away of various tissues and organs in the body.

Atrophy can also occur as a result of natural aging processes, leading to decreased muscle mass and strength in older adults. In general, atrophy is characterized by a decrease in the volume or weight of an organ or tissue, which can have significant impacts on its function and overall health.

Dysarthria is a motor speech disorder that results from damage to the nervous system, particularly the brainstem or cerebellum. It affects the muscles used for speaking, causing slurred, slow, or difficult speech. The specific symptoms can vary depending on the underlying cause and the extent of nerve damage. Treatment typically involves speech therapy to improve communication abilities.

Basal ganglia diseases are a group of neurological disorders that affect the function of the basal ganglia, which are clusters of nerve cells located deep within the brain. The basal ganglia play a crucial role in controlling movement and coordination. When they are damaged or degenerate, it can result in various motor symptoms such as tremors, rigidity, bradykinesia (slowness of movement), and difficulty with balance and walking.

Some examples of basal ganglia diseases include:

1. Parkinson's disease - a progressive disorder that affects movement due to the death of dopamine-producing cells in the basal ganglia.
2. Huntington's disease - an inherited neurodegenerative disorder that causes uncontrolled movements, emotional problems, and cognitive decline.
3. Dystonia - a movement disorder characterized by sustained or intermittent muscle contractions that cause twisting and repetitive movements or abnormal postures.
4. Wilson's disease - a rare genetic disorder that causes excessive copper accumulation in the liver and brain, leading to neurological and psychiatric symptoms.
5. Progressive supranuclear palsy (PSP) - a rare brain disorder that affects movement, gait, and balance, as well as speech and swallowing.
6. Corticobasal degeneration (CBD) - a rare neurological disorder characterized by progressive loss of nerve cells in the cerebral cortex and basal ganglia, leading to stiffness, rigidity, and difficulty with movement and coordination.

Treatment for basal ganglia diseases varies depending on the specific diagnosis and symptoms but may include medication, surgery, physical therapy, or a combination of these approaches.

MedlinePlus is not a medical term, but rather a consumer health website that provides high-quality, accurate, and reliable health information, written in easy-to-understand language. It is produced by the U.S. National Library of Medicine, the world's largest medical library, and is widely recognized as a trusted source of health information.

MedlinePlus offers information on various health topics, including conditions, diseases, tests, treatments, and wellness. It also provides access to drug information, medical dictionary, and encyclopedia, as well as links to clinical trials, medical news, and patient organizations. The website is available in both English and Spanish and can be accessed for free.

Shy-Drager syndrome (SDS) is a rare and progressive neurodegenerative disorder that affects the autonomic nervous system (ANS). The ANS controls involuntary bodily functions such as heart rate, blood pressure, sweating, digestion, and pupil dilation. SDS is also known as multiple system atrophy with orthostatic hypotension or Bradbury-Eggleston syndrome.

SDS is characterized by a combination of symptoms related to the dysfunction of the autonomic nervous system, including:

1. Orthostatic hypotension (a sudden drop in blood pressure upon standing)
2. Autonomic failure (manifesting as erectile dysfunction, urinary retention or incontinence, and gastrointestinal disturbances)
3. Parkinsonian features (tremors, rigidity, bradykinesia, and postural instability)
4. Respiratory abnormalities (breathing difficulties, especially during sleep)
5. Ocular symptoms (abnormal pupil dilation and convergence insufficiency)
6. Smooth muscle atrophy (leading to reduced bladder capacity and gastrointestinal motility issues)

The underlying cause of Shy-Drager syndrome is the degeneration of nerve cells in specific areas of the brain, particularly within the autonomic nervous system centers. The exact etiology remains unclear; however, it is believed to involve a combination of genetic and environmental factors. There is no known cure for SDS, and treatment primarily focuses on managing symptoms and improving quality of life.

Alpha-synuclein is a protein that is primarily found in neurons (nerve cells) in the brain. It is encoded by the SNCA gene and is abundantly expressed in presynaptic terminals, where it is believed to play a role in the regulation of neurotransmitter release.

In certain neurological disorders, including Parkinson's disease, dementia with Lewy bodies, and multiple system atrophy, alpha-synuclein can form aggregates known as Lewy bodies and Lewy neurites. These aggregates are a pathological hallmark of these diseases and are believed to contribute to the death of nerve cells, leading to the symptoms associated with these disorders.

The precise function of alpha-synuclein is not fully understood, but it is thought to be involved in various cellular processes such as maintaining the structure of the presynaptic terminal, regulating synaptic vesicle trafficking and neurotransmitter release, and protecting neurons from stress.

Progressive Supranuclear Palsy (PSP) is a rare neurological disorder characterized by the progressive degeneration of brain cells that regulate movement, thoughts, behavior, and eye movements. The term "supranuclear" refers to the location of the damage in the brain, specifically above the level of the "nuclei" which are clusters of nerve cells that control voluntary movements.

The most common early symptom of PSP is a loss of balance and difficulty coordinating eye movements, particularly vertical gaze. Other symptoms may include stiffness or rigidity of muscles, slowness of movement, difficulty swallowing, changes in speech and writing, and cognitive decline leading to dementia.

PSP typically affects people over the age of 60, and its progression can vary from person to person. Currently, there is no cure for PSP, and treatment is focused on managing symptoms and maintaining quality of life.

Parkinson's disease is a progressive neurodegenerative disorder that affects movement. It is characterized by the death of dopamine-producing cells in the brain, specifically in an area called the substantia nigra. The loss of these cells leads to a decrease in dopamine levels, which results in the motor symptoms associated with Parkinson's disease. These symptoms can include tremors at rest, stiffness or rigidity of the limbs and trunk, bradykinesia (slowness of movement), and postural instability (impaired balance and coordination). In addition to these motor symptoms, non-motor symptoms such as cognitive impairment, depression, anxiety, and sleep disturbances are also common in people with Parkinson's disease. The exact cause of Parkinson's disease is unknown, but it is thought to be a combination of genetic and environmental factors. There is currently no cure for Parkinson's disease, but medications and therapies can help manage the symptoms and improve quality of life.

Physical and Rehabilitation Medicine (PRM), also known as Physiatry, is a medical specialty that deals with the prevention, diagnosis, and treatment of patients with disabilities or functional limitations related to musculoskeletal, cardiovascular, pulmonary, neurologic, and other systems. The main goal of this discipline is to restore optimal function, reduce symptoms, and improve the overall quality of life for individuals who have experienced injuries, illnesses, or disabling conditions.

PRM physicians use a variety of techniques, including physical therapy, occupational therapy, speech-language pathology, assistive devices, medications, and various types of injections to manage pain and spasticity. They also perform electrodiagnostic studies to diagnose neuromuscular disorders and provide comprehensive rehabilitation plans tailored to each patient's unique needs and goals.

In addition to direct patient care, PRM specialists often work as part of multidisciplinary teams in hospitals, rehabilitation centers, and outpatient clinics, collaborating with other healthcare professionals such as nurses, therapists, psychologists, and social workers to provide coordinated, holistic care for patients.

An encyclopedia is a comprehensive reference work containing articles on various topics, usually arranged in alphabetical order. In the context of medicine, a medical encyclopedia is a collection of articles that provide information about a wide range of medical topics, including diseases and conditions, treatments, tests, procedures, and anatomy and physiology. Medical encyclopedias may be published in print or electronic formats and are often used as a starting point for researching medical topics. They can provide reliable and accurate information on medical subjects, making them useful resources for healthcare professionals, students, and patients alike. Some well-known examples of medical encyclopedias include the Merck Manual and the Stedman's Medical Dictionary.

Speech Therapy, also known as Speech-Language Pathology, is a medical field that focuses on the assessment, diagnosis, treatment, and prevention of communication and swallowing disorders in children and adults. These disorders may include speech sound production difficulties (articulation disorders or phonological processes disorders), language disorders (expressive and/or receptive language impairments), voice disorders, fluency disorders (stuttering), cognitive-communication disorders, and swallowing difficulties (dysphagia).

Speech therapists, who are also called speech-language pathologists (SLPs), work with clients to improve their communication abilities through various therapeutic techniques and exercises. They may also provide counseling and education to families and caregivers to help them support the client's communication development and management of the disorder.

Speech therapy services can be provided in a variety of settings, including hospitals, clinics, schools, private practices, and long-term care facilities. The specific goals and methods used in speech therapy will depend on the individual needs and abilities of each client.

Occupational therapy (OT) is a healthcare profession that aims to improve the daily living and functional abilities of individuals who have physical, sensory, or cognitive disabilities. OT focuses on helping people participate in the activities of everyday life, such as self-care tasks (e.g., dressing, grooming), productive tasks (e.g., work, school), and leisure activities (e.g., hobbies, sports).

Occupational therapists use a variety of interventions to achieve these goals, including:

1. Customized treatment plans that focus on the individual's specific needs and goals.
2. Adaptive equipment and assistive technology to help individuals perform activities more independently.
3. Education and training for individuals, families, and caregivers on how to use adaptive equipment and techniques.
4. Environmental modifications to make daily activities safer and more accessible.
5. Skill development and practice in areas such as fine motor coordination, cognitive skills, and sensory processing.

Occupational therapy can be provided in a variety of settings, including hospitals, rehabilitation centers, outpatient clinics, schools, and private homes. OT is often recommended for individuals who have experienced a stroke, brain injury, spinal cord injury, or other conditions that affect their ability to perform daily activities.

Speech disorders refer to a group of conditions in which a person has difficulty producing or articulating sounds, words, or sentences in a way that is understandable to others. These disorders can be caused by various factors such as developmental delays, neurological conditions, hearing loss, structural abnormalities, or emotional issues.

Speech disorders may include difficulties with:

* Articulation: the ability to produce sounds correctly and clearly.
* Phonology: the sound system of language, including the rules that govern how sounds are combined and used in words.
* Fluency: the smoothness and flow of speech, including issues such as stuttering or cluttering.
* Voice: the quality, pitch, and volume of the spoken voice.
* Resonance: the way sound is produced and carried through the vocal tract, which can affect the clarity and quality of speech.

Speech disorders can impact a person's ability to communicate effectively, leading to difficulties in social situations, academic performance, and even employment opportunities. Speech-language pathologists are trained to evaluate and treat speech disorders using various evidence-based techniques and interventions.

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... is a rare genetic disorder characterized by olivopontocerebellar atrophy which ... "Olivopontocerebellar atrophy deafness - About the Disease - Genetic and Rare Diseases Information Center". rarediseases.info. ... Pratap-Chand, R.; Gururaj, A. K.; Dilip-Kumar, S. (1995-02-01). "A syndrome of olivopontocerebellar atrophy and deafness with ... "Olivopontocerebellar Atrophy: Background, Pathophysiology, Epidemiology". 2022-03-11. {{cite journal}}: Cite journal requires , ...
"NINDS Olivopontocerebellar Atrophy Information Page". National Institutes of Health. 16 April 2014. Archived from the original ... and chronic degenerative conditions such as olivopontocerebellar atrophy. Some forms of migraine headache may also produce ... Cerebellar atrophy can result from an acute deficiency of vitamin B1 (thiamine) as seen in beriberi and in Wernicke-Korsakoff ... Cerebellar atrophy can also occur as a result of exposure to toxins including heavy metals or pharmaceutical or recreational ...
It is sometimes termed sporadic olivopontocerebellar atrophy.[citation needed] Ongoing care from a neurologist specializing in ... These include striatonigral degeneration (SND), olivopontocerebellar atrophy (OPCA), and Shy-Drager syndrome. A table ... olivopontocerebellar atrophy and Shy-Drager syndrome)". Journal of the Neurological Sciences. 94 (1-3): 79-100. doi:10.1016/ ... "The spectrum of pathological involvement of the striatonigral and olivopontocerebellar systems in multiple system atrophy: ...
Botez-Marquard T, Botez MI (1997). "Olivopontocerebellar atrophy and Friedreich's ataxia: neuropsychological consequences of ... "Amantadine hydrochloride treatment in olivopontocerebellar atrophy: a long-term follow-up study". European Neurology. 41 (4): ... "Radiologic correlates of reaction time measurements in olivopontocerebellar atrophy". European Neurology. 33 (4): 304-9. doi: ... cerebral atrophy and folate deficiency. A close association". Applied Neurophysiology. 42 (3): 171-83. doi:10.1159/000102361. ...
Additional Parkinson-plus syndromes include Pick's disease and olivopontocerebellar atrophy. The latter is characterized by ... "Multiple System Atrophy with Orthostatic Hypotension Information Page". Archived from the original on 2012-05-14. Retrieved ... Mark, M. H. (2001). "Lumping and splitting the Parkinson Plus syndromes: dementia with Lewy bodies, multiple system atrophy, ... They include multiple system atrophy (MSA), progressive supranuclear palsy (PSP), and corticobasal degeneration (CBD). Dementia ...
Named along with French neurologist Jules Sottas (1866-1945). Dejerine-Thomas olivopontocerebellar atrophy: A sporadically ...
ATXN7 is associated with both olivopontocerebellar atrophy type 3 (OPCA3) and spinocerebellar ataxia type 7 (SCA7). CAG repeat ...
Murchison fought a rare nerve disease called olivopontocerebellar atrophy and was in a wheelchair in his final years. He died ...
Also, it has been found that people with malaria and patients with olivopontocerebellar atrophy have raised quinolinic acid ... increased concentrations of quinolinic acid in the CSF of HAND patients correlates with HIV encephalitis and cerebral atrophy. ...
... inherited olivopontocerebellar atrophy, cerebello-olivary atrophy, or the more generic term "spinocerebellar degeneration." ( ... ataxia at NINDS msa at NINDS opca_doc at NINDS MedlinePlus Encyclopedia: Olivopontocerebellar atrophy Spinocerebellar ataxia 27 ... and olivopontocerebellar atrophy.[citation needed] There have been reported cases where a polyglutamine expansion may lengthen ... As with other forms of ataxia, SCA frequently results in atrophy of the cerebellum, loss of fine coordination of muscle ...
... chronic degenerative diseases such as olivopontocerebellar atrophy, and genetic developmental disorders. Parkinson's disease, ...
Olivopontocerebellar atrophy Optic atrophy Spinomuscular atrophy Hypertrophy List of biological development disorders W. T. ... Atrophy is the partial or complete wasting away of a part of the body. Causes of atrophy include mutations (which can destroy ... The adrenal glands atrophy during prolonged use of exogenous glucocorticoids like prednisone. Atrophy of the breasts can occur ... This atrophy, occurring concurrently with breast atrophy, is consistent with the homeostatic (normal development) role of ...
In the early 90s, she was a member of the team studying neurodegenerative syndromes including olivopontocerebellar atrophy (a ...
... atrophy deafness Olivopontocerebellar atrophy type 1 Olivopontocerebellar atrophy type 2 Olivopontocerebellar atrophy type 3 ... Opsismodysplasia Optic atrophy ophthalmoplegia ptosis deafness myopia Optic atrophy polyneuropathy deafness Optic atrophy, ... autosomal dominant Optic atrophy, idiopathic, autosomal recessive Optic atrophy Optic disc drusen Optic nerve coloboma with ... Olivopontocerebellar atrophy Ollier disease Olmsted syndrome Olney's lesions Omenn syndrome Omodysplasia type 1 Omodysplasia ...
... learning disorder Occipital Neuralgia Occult spinal dysraphism sequence Ohtahara syndrome Olivopontocerebellar atrophy ... bifida Spinal and bulbar muscular atrophy Spinal cord injury Spinal cord tumors Spinal muscular atrophy Spinal muscular atrophy ... of consciousness Distal hereditary motor neuropathy type V Distal spinal muscular atrophy type 1 Distal spinal muscular atrophy ... see Spinal muscular atrophy Lafora disease Lambert-Eaton myasthenic syndrome Landau-Kleffner syndrome Lateral medullary ( ...
... disorders Neuroacanthocytosis Viral encephalitis Neuronal ceroid lipofuscinosis Wilson's disease Olivopontocerebellar atrophy ... Striatonigral degeneration Lesch-Nyhan syndrome Systemic lupus erythematosus Lyme disease Torticollis Multiple system atrophy ...
... spinal muscular atrophies of childhood MeSH C10.574.625.600 - olivopontocerebellar atrophies MeSH C10.574.625.700 - shy-drager ... multiple system atrophy MeSH C10.228.140.079.612.600 - olivopontocerebellar atrophies MeSH C10.228.140.079.612.700 - shy-drager ... multiple system atrophy MeSH C10.228.662.550.600 - olivopontocerebellar atrophies MeSH C10.228.662.550.700 - shy-drager ... optic atrophy MeSH C10.292.700.225.500 - optic atrophies, hereditary MeSH C10.292.700.225.500.400 - optic atrophy, hereditary, ...
... olivopontocerebellar atrophies MeSH C16.320.400.780.875 - spinocerebellar ataxias MeSH C16.320.400.780.875.500 - Machado-Joseph ... gyrate atrophy MeSH C16.320.290.564 - optic atrophies, hereditary MeSH C16.320.290.564.400 - optic atrophy, hereditary, leber ... optic atrophies, hereditary MeSH C16.320.400.630.400 - optic atrophy, hereditary, leber MeSH C16.320.400.630.500 - optic ... spinal muscular atrophies of childhood MeSH C16.320.400.780 - spinocerebellar degenerations MeSH C16.320.400.780.200 - ...
Nonketotic hyperglycinemia Olivopontocerebellar atrophy (some recessive forms) Rett syndrome Sulfite oxidase deficiency ... and GluR2 in nonfamilial olivopontocerebellar degeneration). In 1994 GluR3 was shown to act as an autoantigen in Rasmussen's ... "Autoantibodies to glutamate receptor subunit GluR2 in nonfamilial olivopontocerebellar degeneration". Neurology. 48 (2): 494- ...
... a part of the US Federal Bureau of Investigation Olivopontocerebellar atrophy, a brain disorder Orange Park Christian Academy, ...
Multiple system atrophy (Shy-Drager syndrome) Neuroacanthocytosis Neuronal ceroid lipofuscinosis Olivopontocerebellar atrophy ... "Regional brain stem atrophy in idiopathic Parkinson's disease detected by anatomical MRI". PLOS ONE. 4 (12): e8247. Bibcode: ...
Many ataxic disorders which were historically identified as Marie's ataxia, olivopontocerebellar atrophy or other names were ... It also causes mild atrophy in cerebral cortical tissue. A recent study also found significant atrophy of the spinal cord and ... giving rise to categories called olivopontocerebellar atrophy and spinocerebellar degradation, though little consensus between ... All SCAs cause atrophy in various neural tissues that are detectable using magnetic resonance imaging, computed tomography, or ...
... mucosa mucous membranes multifidus muscle muscle fascicle muscle spindle muscle tissue muscles of the thorax muscular atrophy ... system olfactory tract olfactory trigone oligodendroglia oligodendroglial cells olive olivocerebellar axon olivopontocerebellar ...
... anomalies unusual facies Mumps Münchausen syndrome Münchausen syndrome by proxy Muscle-eye-brain syndrome Muscular atrophy ... Caskey syndrome Michels syndrome Mickleson syndrome Micrencephaly corpus callosum agenesis Micrencephaly olivopontocerebellar ... cerebellar ataxia deafness Myoclonus epilepsy partial seizure Myoclonus hereditary progressive distal muscular atrophy ... Multiple subcutaneous angiolipomas Multiple sulfatase deficiency Multiple synostoses syndrome 1 Multiple system atrophy ...
Olivopontocerebellar atrophy-deafness syndrome "Multiple system atrophy - cerebellar subtype: MedlinePlus Medical Encyclopedia ... "Olivopontocerebellar atrophy , Genetic and Rare Diseases Information Center (GARD) - an NCATS Program". Olivopontocerebellar ... Olivopontocerebellar atrophy (OPCA) is the degeneration of neurons in specific areas of the brain - the cerebellum, pons, and ... Olivopontocerebellar atrophy is hereditary, but has an unknown genetic basis. There are two forms: A few non-hereditary ...
Olivopontocerebellar atrophy (OPCA) is a neurodegenerative syndrome characterized by prominent cerebellar and extrapyramidal ... encoded search term (Olivopontocerebellar Atrophy) and Olivopontocerebellar Atrophy What to Read Next on Medscape ... Evolution of sporadic olivopontocerebellar atrophy into multiple system atrophy. Neurology. 2000 Aug 22. 55(4):527-32. [QxMD ... Infantile olivopontocerebellar atrophy with spinal muscular atrophy (infantile OPCA + SMA). Clin Neuropathol. 1990 Jan-Feb. 9(1 ...
Olivopontocerebellar atrophy (OPCA) is a neurodegenerative syndrome characterized by prominent cerebellar and extrapyramidal ... encoded search term (Olivopontocerebellar Atrophy) and Olivopontocerebellar Atrophy What to Read Next on Medscape ... Evolution of sporadic olivopontocerebellar atrophy into multiple system atrophy. Neurology. 2000 Aug 22. 55(4):527-32. [QxMD ... Infantile olivopontocerebellar atrophy with spinal muscular atrophy (infantile OPCA + SMA). Clin Neuropathol. 1990 Jan-Feb. 9(1 ...
The prognosis of Olivopontocerebellar atrophy type 3 usually refers to the likely outcome of Olivopontocerebellar atrophy ... The prognosis of Olivopontocerebellar atrophy type 3 may include the duration of Olivopontocerebellar atrophy type 3, chances ... recovery period for Olivopontocerebellar atrophy type 3, survival rates, death rates, and other outcome possibilities in the ... overall prognosis of Olivopontocerebellar atrophy type 3. Naturally, such forecast issues are by their nature unpredictable ...
Dejerine-Thomas atrophy (olivopontocerebellar atrophy). Degeneration of olivary nucleus, ventral pons, middle cerebellar ...
Dejerine-Thomas olivopontocerebellar atrophy: A sporadically occurring form of chronic progressive ataxia. ...
Multiple system atrophy is a progressive brain disorder that affects movement and balance and disrupts the function of the ... Sporadic olivopontocerebellar atrophy. Additional Information & Resources. Genetic Testing Information. *Genetic Testing ... Multiple-System Atrophy Research Collaboration. Mutations in COQ2 in familial and sporadic multiple-system atrophy. N Engl J ... Multiple system atrophy is a progressive brain disorder that affects movement and balance and disrupts the function of the ...
It is sometimes termed sporadic olivopontocerebellar atrophy.[citation needed] Ongoing care from a neurologist specializing in ... These include striatonigral degeneration (SND), olivopontocerebellar atrophy (OPCA), and Shy-Drager syndrome. A table ... olivopontocerebellar atrophy and Shy-Drager syndrome)". Journal of the Neurological Sciences. 94 (1-3): 79-100. doi:10.1016/ ... "The spectrum of pathological involvement of the striatonigral and olivopontocerebellar systems in multiple system atrophy: ...
keywords = "Corticobasal degeneration, Multiple system atrophy, Olivopontocerebellar atrophy, Progressive supranuclear palsy, ... Corticobasal degeneration with olivopontocerebellar atrophy and TDP-43 pathology: An unusual clinicopathologic variant of CBD. ... Corticobasal degeneration with olivopontocerebellar atrophy and TDP-43 pathology: An unusual clinicopathologic variant of CBD. ... Corticobasal degeneration with olivopontocerebellar atrophy and TDP-43 pathology : An unusual clinicopathologic variant of CBD ...
Learn about progressive muscular atrophy (PMA), a rare adult-onset disease that affects your lower motor neurons. ... Understanding Olivopontocerebellar Atrophy: Treatment, Outlook, and More. Medically reviewed by Heidi Moawad, M.D. ... Distal Spinal Muscular Atrophy: What You Need To Know. Distal spinal muscular atrophy primarily impacts the hands and feet ... Spinal Muscular Atrophy: Whats a Carrier?. Carrier screening for spinal muscular atrophy is a relatively noninvasive process. ...
Striatonigral degeneration associated with olivopontocerebellar atrophy. Anatomo-clinical study of 3 cases. Nosologic ... Multiple system atrophy: natural history, MRI morphology, and dopamine receptor imaging with 123IBZM-SPECT. J Neurol Neurosurg ... Multiple system atrophy-the nature of the beast. J Neurol Neurosurg Psychiatry1989;52(suppl):78-89. ... Clinical features and natural history of multiple system atrophy (MSA) have been established in four recent series.1-4 Multiple ...
Aita, J. , Möller, C. & Smith, S. (1987). Cranial CT and olivopontocerebellar atrophy. Konferensbidrag vid Midwest Clinical ... 2011). Identification of p.A684V missense mutation in the WFS1 gene as a frequent cause of autosomal dominant optic atrophy and ... Möller, C. (1988). Olivo-ponto-cerebellar atrophy and otoneurological findings. Konferensbidrag vid Course at Eye and Ear ... Ödkvist, L. M. , Möller, C. , Aita, J. , White, V. , Smith, S. & Rubin, A. (1988). Findings in olivopontocerebellar ...
... olivopontocerebellar atrophy) ... Multiple system atrophy (MSA; MSA-A, formerly Shy-Drager ...
olivopontocerebellar atrophy (MSA-C). * tauopathies * Alzheimer disease *typical/classical Alzheimer disease. *variant (e.g. ...
olivopontocerebellar atrophy (MSA-C). * tauopathies * Alzheimer disease *typical/classical Alzheimer disease. *variant (e.g. ...
... striatonigral degeneration and sporadic olivopontocerebellar atrophy. Researchers have learned that there is a common ... Click here to download the PDF on Multiple System Atrophy. Multiple System Atrophy (MSA) is a progressive brain disorder caused ... Credit: Multiple System Atrophy Trust (UK), formerly known as The Sarah Matheson Trust used with permission www.msaweb.co.uk, ... Which parts of the brain are affected in Multiple System Atrophy?. In MSA, cells are damaged in different areas of the brain ...
Decreased [123I]β-CIT uptake has been reported in dementia with Lewy bodies (DLB), sporadic olivopontocerebellar atrophy, and ... Preclinical impairment of the striatal dopamine transporter system in sporadic olivopontocerebellar atrophy: studied with [123I ... Gilman S, Low PA, Quinn N, et al. Consensus statement on the diagnosis of multiple system atrophy. J Neurol Sci 1999;163:94-8. ... Pirker W, Asenbaum S, Bencsits G, et al. [123I]β-CIT SPECT in multiple system atrophy, progressive supranuclear palsy, and ...
The second primarily involves olivopontocerebellar atrophy and presents with more prominent cerebellar ataxia. Given the ... Progressive Supranuclear Palsy and Multiple Systems Atrophy. Progressive supranuclear palsy (PSP) and multiple systems atrophy ... The pathology of AD is complex but characterized by loss of neurons, brain atrophy, extra-cellular deposition of amyloid Beta ( ... Grosskreutz J, Kaufmann J, Fradrich J, Dengler R, Heinze HJ, Peschel T. Widespread sensorimotor and frontal cortical atrophy in ...
Multiple system atrophy (MSA) is a rare and progressive neurodegenerative disorder. Autonomic failure (AF) is one main clinical ... Multiple system atrophy (MSA) is a rare and progressive neurodegenerative disorder. Autonomic failure (AF) is one main clinical ... olivopontocerebellar atrophy and Shy-Drager syndrome). J Neurol Sci. (1989) 94:79-100. doi: 10.1016/0022-510X(89)90219-0 ... Multiple system atrophy: recent developments and future perspectives. Mov Disord. (2019) 34:1629-42. doi: 10.1002/mds.27894 ...
The term olivopontocerebellar atrophy is used when the disorder starts later in life and the process is a primary degeneration ... Infantile onset progressive cerebellar atrophy and anterior horn cell degeneration--a late onset variant of PCH-1? Eur J ... However, anterior horn cell degeneration has also been described in cases with later onset pontocerebellar atrophy and recently ... spectrum has even been further extended to include the association of anterior horn cell degeneration and cerebellar atrophy ...
B. OLIVOPONTOCEREBELLAR ATROPHY (OPCA) (N=4). A 43 year old patient with a diagnosis of OPCA had difficulties with balance and ...
Multiple System Atrophy (MSA) - Etiology, pathophysiology, symptoms, signs, diagnosis & prognosis from the MSD Manuals - ... It includes 3 disorders previously thought to be distinct: olivopontocerebellar atrophy, striatonigral degeneration, and Shy- ... Symptoms and Signs of Multiple System Atrophy Initial symptoms of multiple system atrophy vary but include a combination of ... Etiology of Multiple System Atrophy Etiology of multiple system atrophy is unknown, but neuronal degeneration occurs in several ...
MSA was formerly called Shy-Drager syndrome, olivopontocerebellar atrophy or striatonigral degeneration. MSA shares many ... Multiple system atrophy (MSA). Overview. Multiple system atrophy (MSA) is a rare, degenerative neurological disorder affecting ... Multiple system atrophy (MSA) affects many parts of your body. Symptoms usually start in adulthood, usually in the 50s or 60s. ... Multiple system atrophy (MSA) is not known to be an inherited condition, so a family history of a condition with similar ...
... cerebellar cortical atrophy, multisystem atrophy, and olivopontocerebellar degeneration. ...
olivopontocerebellar atrophy DOID:14784 * rectum adenocarcinoma DOID:1996 * atypical teratoid rhabdoid tumor ...
OLIVOPONTOCEREBELLAR ATROPHY. OLIVOPONTOCEREBELLAR ATROPHIES. OPTIC ATROPHY, HEREDITARY. OPTIC ATROPHIES, HEREDITARY. ...
OLIVOPONTOCEREBELLAR ATROPHY. OLIVOPONTOCEREBELLAR ATROPHIES. OPTIC ATROPHY, HEREDITARY. OPTIC ATROPHIES, HEREDITARY. ...
OLIVOPONTOCEREBELLAR ATROPHY. OLIVOPONTOCEREBELLAR ATROPHIES. OPTIC ATROPHY, HEREDITARY. OPTIC ATROPHIES, HEREDITARY. ...
OLIVOPONTOCEREBELLAR ATROPHY. OLIVOPONTOCEREBELLAR ATROPHIES. OPTIC ATROPHY, HEREDITARY. OPTIC ATROPHIES, HEREDITARY. ...
OLIVOPONTOCEREBELLAR ATROPHY. OLIVOPONTOCEREBELLAR ATROPHIES. OPTIC ATROPHY, HEREDITARY. OPTIC ATROPHIES, HEREDITARY. ...
  • Olivopontocerebellar atrophy (OPCA) is the degeneration of neurons in specific areas of the brain - the cerebellum, pons, and inferior olivary nucleus. (wikipedia.org)
  • OPCA is present in several neurodegenerative syndromes, including inherited and non-inherited forms of ataxia (such as the hereditary spinocerebellar ataxia known as Machado-Joseph disease) and multiple system atrophy (MSA), with which it is primarily associated. (wikipedia.org)
  • Olivopontocerebellar atrophy (OPCA) is a neurodegenerative syndrome characterized by prominent cerebellar and extrapyramidal signs, dysarthria, and dysphagia. (medscape.com)
  • MRI is the imaging study of choice in patients with olivopontocerebellar atrophy (OPCA) because CT scanning does not provide adequate resolution of the pons and cerebellum. (medscape.com)
  • The classification scheme for autosomal dominant OPCA overlaps with that of autosomal dominant spinocerebellar atrophies (SCAs) and autosomal dominant cerebellar atrophies (ADCAs). (medscape.com)
  • In the sporadic type of OPCA, at least some of the cases are a subset of multiple system atrophy (MSA). (medscape.com)
  • Care of olivopontocerebellar atrophy (OPCA) is directed to the treatment of symptoms. (medscape.com)
  • At times, olivopontocerebellar atrophy (OPCA) patients may require enteral feeding to decrease the risk of aspiration. (medscape.com)
  • As dysphagia progresses with olivopontocerebellar atrophy (OPCA), a pureed diet or enteral feeding may be required. (medscape.com)
  • We identified three cases of CBD with olivopontocerebellar atrophy (CBD-OPCA) that did not have a-synuclein-positive glial cytoplasmic inclusions of multiple system atrophy (MSA). (elsevierpure.com)
  • In addition, CBD-OPCA had TDP-43 immunoreactive neuronal and glial cytoplasmic inclusions and threads throughout the basal ganglia and in olivopontocerebellar system. (elsevierpure.com)
  • These results suggest that CBD-OPCA is a distinct clinicopathologic variant of CBD with olivopontocerebellar TDP-43 pathology. (elsevierpure.com)
  • Results: Patients with SCA3 exhibited reduced brain complexity within both the traditional olivopontocerebellar atrophy (OPCA) pattern and specific supratentorial regions. (tmu.edu.tw)
  • Clinical investigations have shown that in SCA2 patients olivopontocerebellar atrophy (OPCA) is observed. (ampkpathway.com)
  • They consisted of 24 patients with olivopontocerebellar atrophy (OPCA), 25 with Shy-Drager syndrome (SDS) and 10 with striatonigral degeneration (SND). (go.jp)
  • Dejerine and Thomas first used the term olivopontocerebellar atrophy (OPCA) in 1900 when they described 2 patients with a degenerative disorder leading to progressive cerebellar dysfunction and parkinsonism. (medscape.com)
  • MSA includes conditions that were previously known individually as Shy-Drager syndrome, striatonigral degeneration and sporadic olivopontocerebellar atrophy. (parkinson.ca)
  • It includes 3 disorders previously thought to be distinct: olivopontocerebellar atrophy, striatonigral degeneration, and Shy-Drager syndrome. (msdmanuals.com)
  • MSA was formerly called Shy-Drager syndrome, olivopontocerebellar atrophy or striatonigral degeneration. (middlesexhealth.org)
  • In 1960, van de Eecken, Adams, and van Bogaert reported 3 patients with striatonigral degeneration (SND) with atrophy of the caudate nucleus and putamen. (medscape.com)
  • They include multiple system atrophy (MSA), progressive supranuclear palsy (PSP ), corticobasal degeneration (CBD) and Dementia with Lewy bodies (DLB). (parkinson.ca)
  • Infantile onset progressive cerebellar atrophy and anterior horn cell degeneration--a late onset variant of PCH-1? (nih.gov)
  • The term olivopontocerebellar atrophy is used when the disorder starts later in life and the process is a primary degeneration of cerebellar neurons. (nih.gov)
  • However, anterior horn cell degeneration has also been described in cases with later onset pontocerebellar atrophy and recently the spectrum has even been further extended to include the association of anterior horn cell degeneration and cerebellar atrophy without pontine involvement. (nih.gov)
  • Neurological diseases that feature cerebellar degeneration include ischemic or hemorrhagic stroke (when there is lack of blood flow or oxygen to the cerebellum), cerebellar cortical atrophy, multisystem atrophy, and olivopontocerebellar degeneration. (neurological.org.nz)
  • Researchers have described two major types of multiple system atrophy, which are distinguished by their major signs and symptoms at the time of diagnosis. (medlineplus.gov)
  • Olivopontocerebellar atrophy is hereditary, but has an unknown genetic basis. (wikipedia.org)
  • Original descriptions of the main pathological subtypes, including Friedreich's ataxia, hereditary spastic paraplegia, olivopontocerebellar atrophy and cortical cerebellar atrophy, are revised. (bvsalud.org)
  • If you develop any of the signs and symptoms associated with multiple system atrophy, see your doctor for an evaluation and diagnosis. (middlesexhealth.org)
  • The Use of FDG PET Parametric Imaging in the Diagnosis of Olivopontocerebellar Atrophy. (siuhradiologyresidency.com)
  • Winkler, C. A case of olivo-pontine cerebellar atrophy and our conceptions of neo- and palaio-cerebellum. (wikipedia.org)
  • MSA causes deterioration and shrinkage (atrophy) of portions of your brain (cerebellum, basal ganglia and brainstem) that affect internal body functions and motor control. (middlesexhealth.org)
  • Multiple system atrophy (MSA) is a rare neurodegenerative disorder characterized by autonomic dysfunction, tremors, slow movement, muscle rigidity, and postural instability (collectively known as parkinsonism) and ataxia. (wikipedia.org)
  • Multiple system atrophy (MSA) is a progressive, sporadic and adult-onset neurodegenerative disease characterized by a combination of autonomic failure with parkinsonism, cerebellar ataxia and autonomic dysfunction ( 1 ). (frontiersin.org)
  • Multiple system atrophy (MSA) is a rare and progressive neurodegenerative disorder. (frontiersin.org)
  • Multiple system atrophy is a relentlessly progressive neurodegenerative disorder causing pyramidal, cerebellar, and autonomic dysfunction. (msdmanuals.com)
  • Multiple system atrophy (MSA) is a horrible and unrelenting neurodegenerative disorder with an uncertain etiology and pathophysiology. (biomedcentral.com)
  • Multiple system atrophy (MSA) is a fatal neurodegenerative disorder that presents clinically with varying combinations of autonomic, parkinsonian, cerebellar, and pyramidal dysfunction [ 15 ]. (biomedcentral.com)
  • MRI-morphometric study of infratentorial area of the mind of SCA2 sufferers revealed significant atrophy from the cerebellar vermis from the cerebellar hemispheres of pons bottom of middle cerebellar peduncle of medulla oblongata of cervical section of spinal cord and in addition hypertrophy from the 4th ventricle of the mind have been seen in all situations [6]. (ampkpathway.com)
  • In addition, the primary sign of multiple system atrophy is autonomic failure, which may cause problems with body functions you can't control. (middlesexhealth.org)
  • Reduced cerebral cortical but elevated striatal concentration of somatostatin-like immunoreactivity in dominantly inherited olivopontocerebellar atrophy. (mcmaster.ca)
  • The pathology of AD is complex but characterized by loss of neurons, brain atrophy, extra-cellular deposition of amyloid Beta (Aβ) plaques, and intracellular accumulation of neurofibrillary tangles composed of phosphorylated tau protein. (aao.org)
  • Multiple system atrophy is a progressive brain disorder that affects movement and balance and disrupts the function of the autonomic nervous system. (medlineplus.gov)
  • The most frequent autonomic symptoms associated with multiple system atrophy are a sudden drop in blood pressure upon standing ( orthostatic hypotension ), urinary difficulties, and erectile dysfunction in men. (medlineplus.gov)
  • Multiple system atrophy has a prevalence of 2 to 5 per 100,000 people. (medlineplus.gov)
  • Multiple system atrophy is a complex condition that is likely caused by the interaction of multiple genetic, environmental, and lifestyle factors. (medlineplus.gov)
  • Changes in several genes are being studied as possible risk factors for multiple system atrophy. (medlineplus.gov)
  • Studies suggest that several common variations in the SNCA gene are associated with an increased risk of multiple system atrophy in people of European descent. (medlineplus.gov)
  • Variations in the COQ2 gene have been associated with multiple system atrophy in people of Japanese descent, but this association has not been found in other populations. (medlineplus.gov)
  • It is unclear how changes in the SNCA or COQ2 gene increase the risk of developing multiple system atrophy. (medlineplus.gov)
  • Researchers have also examined environmental factors that could contribute to the risk of multiple system atrophy. (medlineplus.gov)
  • In all cases, multiple system atrophy is characterized by clumps of abnormal alpha-synuclein protein that, for unknown reasons, build up in cells in many parts of the brain and spinal cord. (medlineplus.gov)
  • The progressive loss of cells in these regions underlies the major features of multiple system atrophy. (medlineplus.gov)
  • Most cases of multiple system atrophy are sporadic, which means they occur in people with no history of the disorder in their family. (medlineplus.gov)
  • Multiple system atrophy can be explained as cell loss and gliosis or a proliferation of astrocytes in damaged areas of the central nervous system. (wikipedia.org)
  • Objective: To delineate the frequency and nature of dystonia in multiple system atrophy (MSA). (bmj.com)
  • Clinical features and natural history of multiple system atrophy (MSA) have been established in four recent series. (bmj.com)
  • 1- 4 Multiple system atrophy is usually defined by the predominance of parkinsonian (MSA-P type) or cerebellar (MSA-C type) features. (bmj.com)
  • Multiple System Atrophy (MSA) is a progressive brain disorder caused by loss of nerve cells in specific areas of the brain. (parkinson.ca)
  • Which parts of the brain are affected in Multiple System Atrophy? (parkinson.ca)
  • How is someone diagnosed with Multiple System Atrophy? (parkinson.ca)
  • Multiple system atrophy affects men and women equally. (msdmanuals.com)
  • Although multiple system atrophy begins as one type, symptoms of the other type eventually develop. (msdmanuals.com)
  • Multiple system atrophy (MSA) is a rare, degenerative neurological disorder affecting your body's involuntary (autonomic) functions, including blood pressure, and motor control. (middlesexhealth.org)
  • Multiple system atrophy (MSA) affects many parts of your body. (middlesexhealth.org)
  • There's no known cause for multiple system atrophy (MSA). (middlesexhealth.org)
  • Some research suggests that there may be too much buildup of this protein in multiple system atrophy. (middlesexhealth.org)
  • People typically live about 7 to 10 years after multiple system atrophy symptoms first appear. (middlesexhealth.org)
  • We investigated the survival of patients with multiple system atrophy (MSA) in a follow-up study of 59 patients admitted to Nagoya University Hospital between 1976 and 1991. (go.jp)
  • The clinical definition of multiple system atrophy (MSA) is a progressive, idiopathic, degenerative process beginning in adulthood. (medscape.com)
  • Available at https://www.ninds.nih.gov/health-information/disorders/olivopontocerebellar-atrophy . (medscape.com)
  • Method: We used the three-dimensional fractal dimension (3D-FD) method to quantify the morphological changes in the supratentorial regions and assessed atrophy in the relatively focal regions in patients with SCA3. (tmu.edu.tw)
  • Conclusions: Our results found that the atrophy of the SCA3 are not only limited in the infratentorial regions. (tmu.edu.tw)
  • The prognosis of Olivopontocerebellar atrophy type 3 may include the duration of Olivopontocerebellar atrophy type 3, chances of complications of Olivopontocerebellar atrophy type 3, probable outcomes, prospects for recovery, recovery period for Olivopontocerebellar atrophy type 3, survival rates, death rates, and other outcome possibilities in the overall prognosis of Olivopontocerebellar atrophy type 3. (checkorphan.org)
  • Dejerine-Thomas atrophy" J. J. Dejerine, A. Thomas. (wikipedia.org)
  • Unlike the similarly named spinal muscular atrophy , PMA does not occur in children. (healthline.com)
  • Progressive muscular atrophy (PMA) is a rare adult-onset motor neuron disease. (healthline.com)
  • brain imaging typically shows cerebellar and brain stem atrophy. (beds.ac.uk)
  • The 'prognosis' of Olivopontocerebellar atrophy type 3 usually refers to the likely outcome of Olivopontocerebellar atrophy type 3. (checkorphan.org)
  • In MSA, brain cells in the affected areas shrink (atrophy). (parkinson.ca)
  • [ 6 ] They coined the term olivopontocerebellar atrophy . (medscape.com)
  • Multiple system atrophy is also known as shy-drager syndrome. (naturalayurvedictreatment.com)
  • Shy drager's syndrome causes shrinkage or atrophy of portions of your brain that are cerebellum, basal ganglia and brainstem. (naturalayurvedictreatment.com)
  • Patients typically live for around 7-10 years after he or she has been diagnosed with multiple system atrophy or Shy-drager syndrome. (naturalayurvedictreatment.com)
  • For example diseases such as cancer and AIDS induce a body wasting syndrome called " cachexia ", which is notable for the severe muscle atrophy seen. (wikidoc.org)
  • Examples of atrophying nerve diseases include CMT (Charcot Marie Tooth syndrome) poliomyelitis , amyotrophic lateral sclerosis (ALS or Lou Gehrig's disease), and Guillain-Barre syndrome . (wikidoc.org)
  • diseases and conditions which cause atrophy of muscle mass. " cachexia ", cancer and AIDS which is notable for the severe muscle atrophy congestive heart failure and liver disease. (howmed.net)
  • Other syndromes or conditions which can induce skeletal muscle atrophy are congestive heart failure and liver disease. (wikidoc.org)
  • Pathologic atrophy of muscles can occur due to diseases of the motor nerves, or due to diseases of the muscle tissue itself. (wikidoc.org)
  • skeletal muscle atrophy. (howmed.net)
  • Disuse atrophy of muscles ( muscle atrophy ) and bones , with loss of mass and strength, can occur after prolonged immobility, such as extended bedrest , or having a body part in a cast (living in darkness for the eye, bedridden for the legs, etc). (wikidoc.org)
  • [3] Testing upon mice showed that it blocked the activity of a protein present in the muscle that is involved in muscle atrophy. (wikidoc.org)
  • Neuropathology of multiple system atrophy: New thoughts about pathogenesis. (medscape.com)
  • A deficiency of glutamate dehydrogenase, which results in an excess of glutamate, has been suggested to play a role in the pathogenesis of olivopontocerebellar atrophy. (nih.gov)
  • Examples of atrophy as part of normal development include shrinkage and involution of the thymus in early childhood and the tonsils in adolescence. (wikidoc.org)
  • Multiple system atrophy (MSA) is a progressive neurodegenerative disorder characterized by a combination of symptoms that affect both the central nervous system (which controls how a person moves), and the autonomic nervous system, which controls involuntary functions such as blood pressure or digestion. (nih.gov)
  • The sporadic form tends to present in the fifth or sixth decade, and is considered a clinical subtype of MULTIPLE SYSTEM ATROPHY . (nih.gov)
  • The T 2 W spin-echo axial section shows atrophy of the pons and middle cerebellar peduncles with enlargement of the prepontine and ponto-cerebellar cisterns and moderate atrophy of the cerebellar hemispheres. (pharmacology2000.com)
  • The midline sagittal T 1 W spin-echo image (far right) shows flattening of the pons and atrophy of the cerebellar vermis. (pharmacology2000.com)
  • The clinical definition of multiple system atrophy (MSA) is a progressive, idiopathic, degenerative process beginning in adulthood, manifesting in various degrees of autonomic failure, parkinsonism, cerebellar dysfunction, and pyramidal signs that are poorly responsive to levodopa or dopamine agonists. (medscape.com)
  • As predicted by the name of this parkinsonism, multiple system atrophy affects multiple systems of the body. (parkinsonsinfoclub.com)
  • The changes on the ERG in one patient suggest that cone dysfunction is one of the subtle changes that may be seen in olivopontocerebellar atrophy type II. (nih.gov)
  • Multiple system atrophy is a relentlessly progressive neurodegenerative disorder causing pyramidal, cerebellar, and autonomic dysfunction. (msdmanuals.com)
  • Multiple system atrophy - cerebellar subtype (MSA-C) is a rare disease that causes areas deep in the brain, just above the spinal cord, to shrink (atrophy). (medlineplus.gov)
  • When Do Symptoms of Olivopontocerebellar atrophy Begin? (nih.gov)
  • MRI findings, combined with the clinical symptoms, are highly suggestive of olivopontocerebellar atrophy. (pharmacology2000.com)
  • Although multiple system atrophy begins as one type, symptoms of the other type eventually develop. (msdmanuals.com)
  • Cerebellar abnormalities predominate in olivopontocerebellar atrophy. (msdmanuals.com)
  • The sporadic forms are considered now to be a form of multiple system atrophy (MSA). (nih.gov)
  • Multiple-system atrophy. (medscape.com)
  • Evolution of sporadic olivopontocerebellar atrophy into multiple system atrophy. (medscape.com)
  • Towards translational therapies for multiple system atrophy. (medscape.com)
  • Systemic proteasome inhibition triggers neurodegeneration in a transgenic mouse model expressing human a-synuclein under oligodendrocyte promoter: implications for multiple system atrophy. (medscape.com)
  • Accuracy of portable polygraphy for the diagnosis of sleep apnea in multiple system atrophy. (medscape.com)
  • Recommendations of the global multiple system atrophy research roadmap meeting. (medlineplus.gov)
  • Multiple system atrophy can be explained as cell loss and gliosis or a proliferation of astrocytes in damaged areas of the central nervous system. (wikipedia.org)
  • Who is more likely to get multiple system atrophy? (nih.gov)
  • How is multiple system atrophy diagnosed and treated? (nih.gov)
  • Neurogenic orthostatic hypotension affects approximately 18% of Parkinson's disease, 80% of multiple system atrophy and 100% with pure autonomic failure and dopamine beta hydroxylase deficiency. (pharmacology2000.com)
  • Philip discusses caring for his brother Joe who suffers from severe neurogenic orthostatic hypotension and multiple system atrophy. (pharmacology2000.com)
  • Multiple system atrophy affects men and women equally. (msdmanuals.com)
  • Multiple system atrophy following chronic carbon disulfide exposure. (nih.gov)
  • This report describes a case of olivopontocerebellar atrophy, a form of multiple system atrophy, developing in an adult after over 30 years of occupational exposure to carbon disulfide. (nih.gov)
  • This condition is manageable and modern medication can slow down the progression of multiple system atrophy. (naturalayurvedictreatment.com)
  • Multiple system atrophy is a relatively rare sporadic condition seen in middle aged and elderly patients. (naturalayurvedictreatment.com)
  • In multiple system atrophy there is overexpression of alpha- synuclein named protein in brain neurons. (naturalayurvedictreatment.com)
  • Understanding Multiple System Atrophy- Could Genetics Lead the Way? (touchneurology.com)
  • When it occurs as a result of disease or loss of trophic support due to other disease, it is termed pathological atrophy , although it can be a part of normal body development and homeostasis as well. (wikidoc.org)
  • Histopathologic study of an eye from a 6-year-old family member who died of severe neurologic deterioration secondary to olivopontocerebellar atrophy type II was performed. (nih.gov)
  • This type of atrophy can usually be reversed with exercise unless severe. (wikidoc.org)
  • This condition is called " sarcopenia ", and may be distinct from atrophy in its pathophysiology. (howmed.net)
  • There are many diseases and conditions which cause atrophy of muscle mass. (wikidoc.org)
  • Examples of atrophying muscle diseases include muscular dystrophy , myotonia congenita , and myotonic dystrophy . (wikidoc.org)
  • 16. [Regional cerebral glucose metabolism associated with ataxic gait--an FDG-PET activation study in patients with olivopontocerebellar atrophy]. (nih.gov)
  • Atrophy of the breasts can occur with prolonged estrogen reduction, as with anorexia nervosa or menopause . (wikidoc.org)
  • Astronauts must exercise regularly to minimize atrophy of their limb muscles while they are in microgravity. (wikidoc.org)