Spinocerebellar Degenerations
Cerebellar Diseases
Spinocerebellar Ataxias
Cerebellar Ataxia
Spinal Cord Diseases
Erythrocytes, Abnormal
Spinocerebellar Tracts
Machado-Joseph Disease
Nerve Degeneration
Retinal Degeneration
Macular Degeneration
Trinucleotide Repeat Expansion
Olivopontocerebellar Atrophies
Striatonigral Degeneration
Dysarthria
Basal Ganglia Diseases
Multiple System Atrophy
Friedreich Ataxia
International Classification of Diseases
Gait Ataxia
Analysis of spinocerebellar ataxia type 2 gene and haplotype analysis: (CCG)1-2 polymorphism and contribution to founder effect. (1/218)
Spinocerebellar ataxia type 2 is a familial spinocerebellar ataxia with autosomal dominant inheritance. The gene responsible was recently cloned and this disorder was found to be the result of a CAG expansion in its open reading frame. We analysed 13 SCA2 patients in seven unrelated families in Gunma Prefecture, Japan. In four of the seven families, we detected CCG or CCGCCG interruptions in only the expanded alleles. Cosegregation of these polymorphisms with SCA2 patients was established within each family. Together with the results of haplotype analyses, we considered that at least two founders were present in our area and that these (CCG)1-2 polymorphisms may make analysis of founder effects easier. By sequencing analysis we found that although the number of the long CAG repeat varied in each subclone of expanded alleles, these polymorphisms did not change their configuration. This finding suggests that CCG or CCGCCG sequences are stable when surrounded by the long CAG repeat and a single CAG. Moreover, the presence of these polymorphisms may lead to miscounting the repeat size by conventional estimation using a size marker such as an M13 sequencing ladder. Therefore we should consider these polymorphisms and accurately determine the repeat size by sequencing. (+info)Location score and haplotype analyses of the locus for autosomal recessive spastic ataxia of Charlevoix-Saguenay, in chromosome region 13q11. (2/218)
Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is a clinically homogeneous form of early-onset familial spastic ataxia with prominent myelinated retinal nerve fibers. More than 300 patients have been identified, and most of their families originated in the Charlevoix-Saguenay region of northeastern Quebec, where the carrier prevalence has been estimated to be 1/22. Consistent with the hypothesis of a founder effect, we observed excess shared homozygosity at 13q11, among patients in a genomewide scan of 12 families. Analysis of 19 pedigrees demonstrated very tight linkage between the ARSACS locus and an intragenic polymorphism of the gamma-sarcoglycan (SGCG) gene, but genomic DNA sequence analysis of all eight exons of SGCG revealed no disease-causing mutation. On the basis of haplotypes composed of seven marker loci that spanned 11.1 cM, the most likely position of the ARSACS locus was 0.42 cM distal to the SGCG polymorphism. Two groups of ARSACS-associated haplotypes were identified: a large group that carries a common SGCG allele and a small group that carries a rare SGCG allele. The haplotype groups do not appear to be closely related. Therefore, although chromosomes within each haplotype group may harbor a single ARSACS mutation identical by descent, the two mutations could have independent origins. (+info)Age related axonal neuropathy in spinocerebellar ataxia type 3/Machado-Joseph disease (SCA3/MJD). (3/218)
To identify determinants of peripheral involvement in spinocerebellar ataxia type 3/Machado-Joseph disease (SCA3/MJD) the influence of CAG repeat length, age of onset, disease duration and age on the results of nerve conduction studies was analysed in 58 patients with SCA3/MJD. Patients with SCA3/MJD showed marked reduction of compound muscle action potential (CMAP) and sensory nerve action potential (SNAP) amplitudes indicating axonal neuropathy of both motor and sensory fibres. In addition, there was moderate slowing of nerve conduction suggestive of mild peripheral demyelination. Multivariate regression showed that CMAP and SNAP amplitudes decreased with age, but were not affected by CAG repeat length, age of onset, or disease duration. The age related decline of CMAP and SNAP amplitudes in SCA3/MJD was greater than in normal subjects. The data suggest that the degree of peripheral damage in SCA3/MJD does not depend on CAG repeat length, age of onset, or disease duration, but is mainly related to the time period over which the SCA3/MJD mutation exerts its effect. (+info)Mendelian segregation of normal CAG trinucleotide repeat alleles at three autosomal loci. (4/218)
Segregation ratio distortion (SRD) with preferential transmission of expanded CAG alleles has been reported in Machado-Joseph disease (MJD/SCA3), spinocerebellar ataxia type I (SCA1), and dentatorubral-pallidoluysian atrophy (DRPLA). We have examined the transmission frequencies of alleles in normal heterozygotes at these disease loci in 377 pairs of twins and their parents and find no evidence for SRD. (+info)Cognitive deficits in spinocerebellar ataxia 2. (5/218)
This is one of the first studies assessing the pattern of cognitive impairment in spinocerebellar ataxia 2 (SCA2). Cognitive function was studied in 17 patients with genetically confirmed SCA2 and 15 age- and IQ- matched controls using a neuropsychological test battery comprising tests for IQ, attention, verbal and visuospatial memory, as well as executive functions. Twenty-five percent of the SCA2 subjects showed evidence of dementia. Even in non-demented SCA2 subjects, there was evidence of verbal memory and executive dysfunction. Tests of visuospatial memory and attention were not significantly impaired in the non-demented group compared with controls. There was no relationship between test performance and motor disability, repeat length or age of onset, while disease duration was shown to be inversely correlated with two tests reflecting the progression of cognitive deficits during the course of the disease. Intellectual impairment should therefore not be interpreted as a secondary effect of progressive motor disability, but represents an important and independent part of the SCA2 phenotype. (+info)X linked mental retardation and infantile spasms in a family: new clinical data and linkage to Xp11.4-Xp22.11. (6/218)
In order to describe the neurological abnormalities and to identify the gene localisation, we re-evaluated a previously reported family with X linked mental retardation (XLMR). Reliable data were obtained for six of the seven affected males, of whom two had had infantile spasms. Profound MR (IQ<20) was found in one and mild MR (IQ 50-70) in five males. No dysmorphic features, except for macrocephaly in one male, were found. Neurological abnormalities included varying degrees of spinocerebellar involvement. Neuroimaging studies showed abnormalities, such as cerebellar atrophy or corpus callosum hypoplasia or both, in three of the six males. Several affected and unaffected subjects suffered from hyperhidrosis, which appeared to segregate independently as an autosomal dominant trait. Genetic linkage analysis localised the XLMR disease gene to Xp11.4-Xp22.11 with a maximum multipoint lod score of 3.57, overlapping the candidate region recently found in two Belgian XLMR-infantile spasm families. Compared to the Belgian patients, the majority of the affected males in this report had a considerably milder phenotype. (+info)Linkage disequilibrium at the SCA2 locus. (7/218)
Spinocerebellar ataxia type 2 (SCA2) is caused by the expansion of an unstable CAG repeat encoding a polyglutamine tract. Repeats with 32 to 200 CAGs are associated with the disease, whereas normal chromosomes contain 13 to 33 repeats. We tested 220 families of different geographical origins for the SCA2 mutation. Thirty three were positive (15%). Twenty three families with at least two affected subjects were tested for linkage disequilibium (LD) between the SCA2 mutation and three microsatellite markers, two of which (D12S1332-D12S1333) closely flanked the mutation; the other (D12S1672) was intragenic. Many different haplotypes were observed, indicating the occurrence of several ancestral mutations. However, the same haplotype, not observed in controls, was detected in the German, the Serbian, and some of the French families, suggesting a founder effect or recurrent mutations on an at risk haplotype. (+info)Clinical, neuropathological, and molecular study in two families with spinocerebellar ataxia type 6 (SCA6). (8/218)
To clarify the clinical, neuropathological, and molecular characteristics of spinocerebellar ataxia type 6 (SCA6), two unrelated Japanese families with SCA6 were studied. A clinical feature of the two families was late onset "pure" cerebellar ataxia. Pathologically, three SCA6 brains consistently showed Purkinje cell dominant cortical cerebellar degeneration. Morphometric analysis showed that loss of the cerebellar granule cells and inferior olivary neurons were very mild compared with the severity of Purkinje cell loss. There was no obvious ubiquitin immunoreactive nuclear inclusions. All affected patients had identical expanded alleles, and the expansion was also homogeneously distributed throughout the brain without mosaicism. The present study showed that SCA6 is characterised by Purkinje cell dominant cortical cerebellar degeneration, highly stable transmission of the CAG repeat expansion, and lack of ubiquitin immunoreactive nuclear inclusions. (+info)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.
Cerebellar diseases refer to a group of medical conditions that affect the cerebellum, which is the part of the brain located at the back of the head, below the occipital lobe and above the brainstem. The cerebellum plays a crucial role in motor control, coordination, balance, and some cognitive functions.
Cerebellar diseases can be caused by various factors, including genetics, infections, tumors, stroke, trauma, or degenerative processes. These conditions can result in a wide range of symptoms, such as:
1. Ataxia: Loss of coordination and unsteady gait
2. Dysmetria: Inability to judge distance and force while performing movements
3. Intention tremors: Shaking or trembling that worsens during purposeful movements
4. Nystagmus: Rapid, involuntary eye movement
5. Dysarthria: Speech difficulty due to muscle weakness or incoordination
6. Hypotonia: Decreased muscle tone
7. Titubation: Rhythmic, involuntary oscillations of the head and neck
8. Cognitive impairment: Problems with memory, attention, and executive functions
Some examples of cerebellar diseases include:
1. Ataxia-telangiectasia
2. Friedrich's ataxia
3. Multiple system atrophy (MSA)
4. Spinocerebellar ataxias (SCAs)
5. Cerebellar tumors, such as medulloblastomas or astrocytomas
6. Infarctions or hemorrhages in the cerebellum due to stroke or trauma
7. Infections, such as viral encephalitis or bacterial meningitis
8. Autoimmune disorders, like multiple sclerosis (MS) or paraneoplastic syndromes
9. Metabolic disorders, such as Wilson's disease or phenylketonuria (PKU)
10. Chronic alcoholism and withdrawal
Treatment for cerebellar diseases depends on the underlying cause and may involve medications, physical therapy, surgery, or supportive care to manage symptoms and improve quality of life.
Spinocerebellar ataxias (SCAs) are a group of genetic disorders that affect the cerebellum, which is the part of the brain responsible for coordinating muscle movements. SCAs are characterized by progressive problems with balance, speech, and coordination. They are caused by mutations in various genes that result in the production of abnormal proteins that accumulate in neurons, leading to their degeneration.
There are over 40 different types of SCAs, each caused by a different genetic mutation. Some of the more common types include SCA1, SCA2, SCA3, SCA6, and SCA7. The symptoms and age of onset can vary widely depending on the type of SCA.
In addition to problems with coordination and balance, people with SCAs may also experience muscle weakness, stiffness, tremors, spasticity, and difficulty swallowing or speaking. Some types of SCAs can also cause visual disturbances, hearing loss, and cognitive impairment. Currently, there is no cure for SCAs, but treatments such as physical therapy, speech therapy, and medications can help manage the symptoms.
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.
Spinal cord diseases refer to a group of conditions that affect the spinal cord, which is a part of the central nervous system responsible for transmitting messages between the brain and the rest of the body. These diseases can cause damage to the spinal cord, leading to various symptoms such as muscle weakness, numbness, pain, bladder and bowel dysfunction, and difficulty with movement and coordination.
Spinal cord diseases can be congenital or acquired, and they can result from a variety of causes, including infections, injuries, tumors, degenerative conditions, autoimmune disorders, and genetic factors. Some examples of spinal cord diseases include multiple sclerosis, spina bifida, spinal cord injury, herniated discs, spinal stenosis, and motor neuron diseases such as amyotrophic lateral sclerosis (ALS).
The treatment for spinal cord diseases varies depending on the underlying cause and severity of the condition. Treatment options may include medication, physical therapy, surgery, and rehabilitation. In some cases, the damage to the spinal cord may be irreversible, leading to permanent disability or paralysis.
Abnormal erythrocytes refer to red blood cells that have an abnormal shape, size, or other characteristics. This can include various types of abnormalities such as:
1. Anisocytosis: Variation in the size of erythrocytes.
2. Poikilocytosis: Variation in the shape of erythrocytes, including but not limited to teardrop-shaped cells (dacrocytes), crescent-shaped cells (sickle cells), and spherical cells (spherocytes).
3. Anemia: A decrease in the total number of erythrocytes or a reduction in hemoglobin concentration, which can result from various underlying conditions such as iron deficiency, chronic disease, or blood loss.
4. Hemoglobinopathies: Abnormalities in the structure or function of hemoglobin, the protein responsible for carrying oxygen in erythrocytes, such as sickle cell anemia and thalassemia.
5. Inclusion bodies: Abnormal structures within erythrocytes, such as Heinz bodies (denatured hemoglobin) or Howell-Jolly bodies (nuclear remnants).
These abnormalities can be detected through a complete blood count (CBC) and peripheral blood smear examination. The presence of abnormal erythrocytes may indicate an underlying medical condition, and further evaluation is often necessary to determine the cause and appropriate treatment.
Spinocerebellar tracts are a type of white matter tract in the spinal cord that carry information related to proprioception, muscle tone, and movement coordination from the peripheral nervous system to the cerebellum. There are several different spinocerebellar tracts, including the dorsal (or posterior) spinocerebellar tract and the ventral (or anterior) spinocerebellar tract.
The dorsal spinocerebellar tract carries information about the position and movement of joints and muscles from receptors in the skin, muscles, and tendons to the cerebellum. This information is used by the cerebellum to help coordinate movements and maintain balance.
The ventral spinocerebellar tract carries information about muscle stretch and tension from receptors in the muscles to the cerebellum. This information is used by the cerebellum to regulate muscle tone and coordination.
Damage to the spinocerebellar tracts can result in a variety of neurological symptoms, including ataxia (loss of coordination), dysmetria (impaired ability to judge distance or speed of movement), and hypotonia (decreased muscle tone).
Machado-Joseph Disease (MJD) is a genetic disorder that affects the part of the brain that controls movement. It is also known as spinocerebellar ataxia type 3 (SCA3). MJD is characterized by progressive problems with coordination, speech, and swallowing, along with muscle stiffness, tremors, and in some cases, eye movement abnormalities.
MJD is caused by a mutation in the ATXN3 gene, which results in an expanded CAG repeat sequence. This genetic defect leads to the production of an abnormal protein that accumulates in nerve cells, causing them to die. The severity and age of onset of MJD can vary widely, even within families, but symptoms typically begin between the ages of 10 and 60.
MJD is inherited in an autosomal dominant manner, meaning that a child has a 50% chance of inheriting the disease-causing mutation from an affected parent. Currently, there is no cure for MJD, but treatments can help manage symptoms and improve quality of life.
Nerve degeneration, also known as neurodegeneration, is the progressive loss of structure and function of neurons, which can lead to cognitive decline, motor impairment, and various other symptoms. This process occurs due to a variety of factors, including genetics, environmental influences, and aging. It is a key feature in several neurological disorders such as Alzheimer's disease, Parkinson's disease, Huntington's disease, and multiple sclerosis. The degeneration can affect any part of the nervous system, leading to different symptoms depending on the location and extent of the damage.
Retinal degeneration is a broad term that refers to the progressive loss of photoreceptor cells (rods and cones) in the retina, which are responsible for converting light into electrical signals that are sent to the brain. This process can lead to vision loss or blindness. There are many different types of retinal degeneration, including age-related macular degeneration, retinitis pigmentosa, and Stargardt's disease, among others. These conditions can have varying causes, such as genetic mutations, environmental factors, or a combination of both. Treatment options vary depending on the specific type and progression of the condition.
Macular degeneration, also known as age-related macular degeneration (AMD), is a medical condition that affects the central part of the retina, called the macula. The macula is responsible for sharp, detailed vision, which is necessary for activities such as reading, driving, and recognizing faces.
In AMD, there is a breakdown or deterioration of the macula, leading to gradual loss of central vision. There are two main types of AMD: dry (atrophic) and wet (exudative). Dry AMD is more common and progresses more slowly, while wet AMD is less common but can cause rapid and severe vision loss if left untreated.
The exact causes of AMD are not fully understood, but risk factors include age, smoking, family history, high blood pressure, obesity, and exposure to sunlight. While there is no cure for AMD, treatments such as vitamin supplements, laser therapy, and medication injections can help slow its progression and reduce the risk of vision loss.
Trinucleotide Repeat Expansion is a genetic mutation where a sequence of three DNA nucleotides is repeated more frequently than what is typically found in the general population. In this type of mutation, the number of repeats can expand or increase from one generation to the next, leading to an increased risk of developing certain genetic disorders.
These disorders are often neurological and include conditions such as Huntington's disease, myotonic dystrophy, fragile X syndrome, and Friedreich's ataxia. The severity of these diseases can be related to the number of repeats present in the affected gene, with a higher number of repeats leading to more severe symptoms or an earlier age of onset.
It is important to note that not all trinucleotide repeat expansions will result in disease, and some people may carry these mutations without ever developing any symptoms. However, if the number of repeats crosses a certain threshold, it can lead to genetic instability and an increased risk of disease development.
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.
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.
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.
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.
Friedreich Ataxia is a genetic disorder that affects the nervous system and causes issues with movement. It is characterized by progressive damage to the nerves (neurons) in the spinal cord and peripheral nerves, which can lead to problems with muscle coordination, gait, speech, and hearing. The condition is also associated with heart disorders, diabetes, and vision impairment.
Friedreich Ataxia is caused by a mutation in the FXN gene, which provides instructions for making a protein called frataxin. This protein plays a role in the production of energy within cells, particularly in the mitochondria. The mutation in the FXN gene leads to reduced levels of frataxin, which can cause nerve damage and other symptoms associated with Friedreich Ataxia.
The condition typically begins in childhood or early adulthood and progresses over time, often leading to significant disability. There is currently no cure for Friedreich Ataxia, but treatments are available to help manage the symptoms and improve quality of life.
Iron-binding proteins, also known as transferrins, are a type of protein responsible for the transport and storage of iron in the body. They play a crucial role in maintaining iron homeostasis by binding free iron ions and preventing them from participating in harmful chemical reactions that can produce reactive oxygen species (ROS) and cause cellular damage.
Transferrin is the primary iron-binding protein found in blood plasma, while lactoferrin is found in various exocrine secretions such as milk, tears, and saliva. Both transferrin and lactoferrin have a similar structure, consisting of two lobes that can bind one ferric ion (Fe3+) each. When iron is bound to these proteins, they are called holo-transferrin or holo-lactoferrin; when they are unbound, they are referred to as apo-transferrin or apo-lactoferrin.
Iron-binding proteins have a high affinity for iron and can regulate the amount of free iron available in the body. They help prevent iron overload, which can lead to oxidative stress and cellular damage, as well as iron deficiency, which can result in anemia and other health problems.
In summary, iron-binding proteins are essential for maintaining iron homeostasis by transporting and storing iron ions, preventing them from causing harm to the body's cells.
The International Classification of Diseases (ICD) is a standardized system for classifying and coding mortality and morbidity data, established by the World Health Organization (WHO). It provides a common language and framework for health professionals, researchers, and policymakers to share and compare health-related information across countries and regions.
The ICD codes are used to identify diseases, injuries, causes of death, and other health conditions. The classification includes categories for various body systems, mental disorders, external causes of injury and poisoning, and factors influencing health status. It also includes a section for symptoms, signs, and abnormal clinical and laboratory findings.
The ICD is regularly updated to incorporate new scientific knowledge and changing health needs. The most recent version, ICD-11, was adopted by the World Health Assembly in May 2019 and will come into effect on January 1, 2022. It includes significant revisions and expansions in several areas, such as mental, behavioral, neurological disorders, and conditions related to sexual health.
In summary, the International Classification of Diseases (ICD) is a globally recognized system for classifying and coding diseases, injuries, causes of death, and other health-related information, enabling standardized data collection, comparison, and analysis across countries and regions.
Gait ataxia is a type of ataxia, which refers to a lack of coordination or stability, specifically involving walking or gait. It is characterized by an unsteady, uncoordinated, and typically wide-based gait pattern. This occurs due to dysfunction in the cerebellum or its connecting pathways, responsible for maintaining balance and coordinating muscle movements.
In gait ataxia, individuals often have difficulty with controlling the rhythm and pace of their steps, tend to veer or stagger off course, and may display a reeling or stumbling motion while walking. They might also have trouble performing rapid alternating movements like quickly tapping their foot or heel. These symptoms are usually worse when the person is tired or attempting to walk in the dark.
Gait ataxia can be caused by various underlying conditions, including degenerative neurological disorders (e.g., cerebellar atrophy, multiple sclerosis), stroke, brain injury, infection (e.g., alcoholism, HIV), or exposure to certain toxins. Proper diagnosis and identification of the underlying cause are essential for effective treatment and management of gait ataxia.
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.
Cerebellar degeneration
Corneal-cerebellar syndrome
Spinocerebellar ataxia type 1
Vocal cord paresis
Cerebellum
Friedreich's ataxia
Spinocerebellar ataxia
Hereditary spastic paraplegia
Subacute combined degeneration of spinal cord
Contactin 4
N. H. Wadia
Ataxin 7
Bovine spongiform encephalopathy
Spastic ataxia-corneal dystrophy syndrome
Autosomal dominant cerebellar ataxia
Gustave Roussy
Thyrotropin-releasing hormone
Purkinje cell
Stiff-person syndrome
Erika Sawajiri
Hemiplegic migraine
Posterior thoracic nucleus
Dentatorubral-pallidoluysian atrophy
Ataxic cerebral palsy
Behr syndrome
Spinal and bulbar muscular atrophy
Evoked potential
JPH3
Boucher-Neuhäuser syndrome
Alice Lazzarini
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Biohaven's drug for neurological disease fails late-stage study - Metro US
Ataxias8
- Autosomal dominant ataxias include the spinocerebellar ataxias and episodic ataxias. (bcm.edu)
- Spinocerebellar ataxias (SCA) represent the most common form of chronic progressive ataxia in adults. (bcm.edu)
- Has been used for the treatment of Friedreich's ataxia and other hereditary ataxias †[off-label] (spinocerebellar degenerations) (designated an orphan drug by FDA for these uses). (drugs.com)
- Spinocerebellar ataxias are a group of neurodegenerative diseases characterized by the degeneration of Purkinje cells, a major class of neurons in the cerebellum. (medicalxpress.com)
- The autosomal dominant spinocerebellar ataxias (SCAs) are a group of neurodegenerative diseases, clinically and genetically heterogeneous, characterized by degeneration of spinocerebellar pathways with variable involvement of other neural systems. (koreamed.org)
- This disorder is classified as one of the SPINOCEREBELLAR ATAXIAS (Type 3) and has been associated with a mutation of the MJD1 gene on chromosome 14. (uchicago.edu)
- The autosomal dominant cerebellar degenerative disorders are generally referred to as 'spinocerebellar ataxias,' (SCAs) even though 'spinocerebellar' is a hybrid term, referring to both clinical signs and neuroanatomical regions (Margolis, 2003). (beds.ac.uk)
- Neuropathologists have defined SCAs as cerebellar ataxias with variable involvement of the brainstem and spinal cord, and the clinical features of the disorders are caused by degeneration of the cerebellum and its afferent and efferent connections, which involve the brainstem and spinal cord (Schols et al. (beds.ac.uk)
Ataxia type6
- Spinocerebellar ataxia type 7 (SCA7) is one such disease in which nerves in different parts of the brain, including the eye, degenerate, which leads to blindness and difficulty walking, speaking, and balancing. (lifeboat.com)
- Spinocerebellar ataxia type 35 (SCA35) is a rare, autosomal dominant neurodegenerative disorder associated with mutations in TGM6 gene that encode the protein transglutaminase 6 (TG6). (ataxia.org)
- Despite undeniable progresses in the knowledge concerning the molecular pathology of Machado- Joseph disease (MJD)/Spinocerebellar ataxia type 3 (SCA3), therapeutic compounds remain to be discovered and validated. (ataxia.org)
- Spinocerebellar Ataxia Type 3 (SCA3) is a rare autosomal dominative disorder in which one of the neurodegenerative disorders is caused by a CAG repeat expansion on chromosome 14q32.1. (koreamed.org)
- Spinocerebellar ataxia type 1 (SCA1) is characterized by progressive cerebellar ataxia, dysarthria, and eventual deterioration of bulbar functions. (beds.ac.uk)
- In a mouse model of spinocerebellar ataxia type 1 (SCA1), mice carrying mutant Pumilio1 genes develop progressive motor deficits and cerebellar degeneration. (bcm.edu)
Atrophy3
- 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)
Disorders2
- Cerebellar degeneration can result in disorders in fine movement, posture, and motor learning in humans, due to a disturbance of the vestibular system. (wikipedia.org)
- Spinocerebellar ataxia (SCA) comprises a family of autosomal dominant inherited disorders that result from progressive degeneration of the cerebellum and its associated systems. (alliedacademies.org)
Basal ganglia3
- Familial degeneration of the basal ganglia with acanthocytosis: a clinical, neuropathological, and neurochemical study. (medscape.com)
- We hypothesize that degeneration of subcortical regions, including the basal ganglia, is associated with damage of white matter tracts linking these affected regions. (frontiersin.org)
- Degeneration of the basal ganglia is a consistent feature of this disorder. (medscape.com)
Cerebellum7
- Cerebellar degeneration is a condition in which cerebellar cells, otherwise known as neurons, become damaged and progressively weaken in the cerebellum. (wikipedia.org)
- As the cerebellum contributes to the coordination and regulation of motor activities, as well as controlling equilibrium of the human body, any degeneration to this part of the organ can be life-threatening. (wikipedia.org)
- Patients with cerebellar degeneration experience a progressive loss of nerve cells (Purkinje cells) throughout the cerebellum. (wikipedia.org)
- More specifically, the neurological diseases that can cause cerebellar degeneration include: Spinocerebellar ataxia (SCA), which refers to a group of conditions caused by mutations in the genes of a human, and are characterised by degenerative changes to many parts of the central nervous system, inclusive of the cerebellum, brain stem, and spinal cord. (wikipedia.org)
- We describe two siblings from a consanguineous Moslem Arabic family who presented with progressive degeneration of both the cerebellum and the anterior horn cells. (nih.gov)
- Damage or degeneration in the back part of the brain called the cerebellum results in ataxia. (bcm.edu)
- They result from the degeneration of pathways between the spinal cord and cerebellum. (bcm.edu)
Hereditary2
- Cerebellar degeneration can be attributed to a plethora of hereditary and non-hereditary conditions. (wikipedia.org)
- Kjellin syndrome is characterized by retinal degeneration, autosomal recessive hereditary spastic paraplegia, and thin corpus callosum initially associated with spastic paraplegia 15 (SPG15) but more often occurring in individuals with SPG11. (nih.gov)
Tracts2
- An autosomal recessive disease, usually of childhood onset, characterized pathologically by degeneration of the spinocerebellar tracts, posterior columns, and to a lesser extent the corticospinal tracts. (icd9data.com)
- Distal axonopathy" is a term recently introduced to describe those diseases which are expressed as symmetrical, distal, axonal degeneration occurring concurrently in the peripheral nervous system (PNS) and in selected tracts of the central nervous system (CNS). (cdc.gov)
Friedreich's1
- Friedreich's Ataxia is an inherited disorder that leads to spinocerebellar degeneration due to an autosomal recessive mutation in the frataxin gene. (orthobullets.com)
Spinal4
- Pontocerebellar hypoplasia type 1 is associated with spinal anterior horn cell degeneration, congenital contractures, microcephaly, polyhydramnion and respiratory insufficiency leading to early death. (nih.gov)
- It is characterized by progressive degeneration of the nerve tissues of the spinal cord. (icd9data.com)
- Spinocerebellar ataxia (SCA) is a progressive disorder caused by the degeneration of cells in the brain and spinal cord and can lead to symptoms such as uncoordinated movement and muscle wasting. (metro.us)
- Russell JSR, Batten FE, Collier J. Subacute combined degeneration of the spinal cord. (medscape.com)
Disease4
- Acanthocytosis has also been associated with the rare hypobetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration (HARP) syndrome, a disease of childhood akin to Hallervorden-Spatz disease and a defect in the gene for pantothenate kinase. (medscape.com)
- Reuters) -Biohaven Pharmaceutical said on Monday its experimental drug for patients with spinocerebellar ataxia, a genetic disease that affects the nervous system, failed to meet the main goal of a late-stage study. (metro.us)
- The main goal of our project is the development of a powerful genetic model to investigate pathogenesis of spinocerebellar ataxia with axonal neuropathy-1 (SCAN-1) disease. (ataxia.org)
- The world started to notice the contribution of Indian researchers when stalwarts such as Prof. N. H. Wadia published seminal articles on Wilson's disease (with Prof. D. K. Dastur) and spinocerebellar degeneration. (movementdisorders.org)
Diseases1
- In all these diseases, a mutant protein that misfolds causes the degeneration and death of neurons. (lifeboat.com)
Paraneoplastic cerebellar d3
- paraneoplastic cerebellar degeneration, and alcoholic or nutritional cerebellar degeneration. (wikipedia.org)
- Approximately 50% of all patients experience dementia as a result of paraneoplastic cerebellar degeneration. (wikipedia.org)
- Subacute onset of ataxia is usually seen in paraneoplastic cerebellar degeneration. (bcm.edu)
Axonal degeneration1
- These changes in diffusion can be attributed to potential axonal degeneration. (frontiersin.org)
Retinal degeneration2
- Retinal degeneration may be present. (medscape.com)
- ADCA II was characterized by the cerebellar ataxia, associated neurologic features, and the additional findings of macular and retinal degeneration. (beds.ac.uk)
Distal1
- This presentation will summarize our clinical and pathological studies of the nervous system degeneration (distal dying-back axonopathy) in man and experimental animals produced by acrylamide monomer and certain hydrocarbon compounds (hexacarbons). (cdc.gov)
Nervous2
- Besides cerebellar deterioration, SCA is accompanied by degeneration of other nervous system sites. (alliedacademies.org)
- Machado-Joseph State (MJD-III), often referred to as spinocerebellar ataxia kind of III, try a rare, inherited, ataxia (insufficient muscle control) affecting the fresh central nervous system and you will characterized by new slow degeneration from form of areas of the brain called the hindbrain. (sch.id)
Brain2
- After returning home to Pittsburgh in 1998 for support from her extended family, she was diagnosed with spinocerebellar degeneration, in which the connections between the brain and muscles slowly, and inexplicably, deteriorate. (upmc.com)
- Two years later, she was diagnosed with spinocerebellar degeneration, in which the connections between the brain and muscles slowly and inexplicably deteriorate. (tgdaily.com)
MeSH1
- Spinocerebellar Degenerations" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus, MeSH (Medical Subject Headings) . (jefferson.edu)
Functional1
- Functional disability was assessed by the Spinocerebellar Degeneration Functional Score. (bvsalud.org)
Nutritional1
- More commonly, cerebellar degeneration can also be classified according to conditions that an individual may acquire during their lifetime, including infectious, metabolic, autoimmune, paraneoplastic, nutritional or toxic triggers. (wikipedia.org)
Cerebellar21
- The phrases cerebellar degeneration and spinocerebellar degeneration are used to describe changes that have taken place in a person's nervous system (neither term constitutes a specific diagnosis). (nih.gov)
- Cerebellar and spinocerebellar degeneration have many different causes. (nih.gov)
- The prognosis for individuals with ataxia and cerebellar/spinocerebellar degeneration varies depending on its underlying cause. (nih.gov)
- Consider participating in a clinical trial so clinicians and scientists can learn more about ataxia and cerebellar or spinocerebellar degeneration and related disorders. (nih.gov)
- Cerebellar degeneration is a condition in which cerebellar cells, otherwise known as neurons, become damaged and progressively weaken in the cerebellum. (wikipedia.org)
- paraneoplastic cerebellar degeneration, and alcoholic or nutritional cerebellar degeneration. (wikipedia.org)
- Cerebellar degeneration can result in disorders in fine movement, posture, and motor learning in humans, due to a disturbance of the vestibular system. (wikipedia.org)
- Cerebellar degeneration can be attributed to a plethora of hereditary and non-hereditary conditions. (wikipedia.org)
- More commonly, cerebellar degeneration can also be classified according to conditions that an individual may acquire during their lifetime, including infectious, metabolic, autoimmune, paraneoplastic, nutritional or toxic triggers. (wikipedia.org)
- Patients with cerebellar degeneration experience a progressive loss of nerve cells (Purkinje cells) throughout the cerebellum. (wikipedia.org)
- Approximately 50% of all patients experience dementia as a result of paraneoplastic cerebellar degeneration. (wikipedia.org)
- More specifically, the neurological diseases that can cause cerebellar degeneration include: Spinocerebellar ataxia (SCA), which refers to a group of conditions caused by mutations in the genes of a human, and are characterised by degenerative changes to many parts of the central nervous system, inclusive of the cerebellum, brain stem, and spinal cord. (wikipedia.org)
- The classification scheme for autosomal dominant OPCA overlaps with that of autosomal dominant spinocerebellar atrophies (SCAs) and autosomal dominant cerebellar atrophies (ADCAs). (medscape.com)
- 15. Progressive cerebellar atrophy: hereditary ataxias and disorders with spinocerebellar degeneration. (nih.gov)
- To determine the molecular basis for SCA7 cerebellar degeneration, we performed unbiased transcriptome profiling in SCA7 transgenic mice and have delineated a role for altered Ca++ regulation downstream of impaired sirtuin-1 function. (nih.gov)
- This work has led us to uncover decreased nicotinamide adenine dinucleotide (NAD+) as the basis for sirtuin-1 dysfunction in SCA7 cerebellar degeneration, and is yielding additional therapeutic approaches for remedying SCA7 disease phenotypes in model mice and in neurons derived from SCA7 patient stem cells. (nih.gov)
- In the past, the hereditary ataxias have been categorized into predominantly spinal, spinocerebellar, and pure cerebellar forms based on a "typical" clinical picture and age of onset of signs and symptoms. (nih.gov)
- Examples of diseases addressed in this announcement include MJD, hereditary spinocerebellar ataxias (Friedreich's Syndrome), hereditary cerebellar ataxias, ataxia-telangiectasia, hereditary spastic paraplegia, Roussy-Levy and Marinesco-Sjogren syndrome, abetalipoproteinemia (Bassen-Kornzweig syndrome), Refsum's disease and dyssynergia cerebellaris myoclonica (Ramsay Hunt syndrome). (nih.gov)
- The autosomal dominant cerebellar ataxias (ADCA) are a heterogeneous group of neurodegenerative disorders characterized by progressive degeneration of the cerebellum, brain stem and spinal cord. (antibodies-online.com)
- As a result, pathologically proven PSP patients exhibiting cerebellar ataxia have often been misdiagnosed with spinocerebellar degeneration, specifically multiple system atrophy with predominant cerebellar ataxia (MSA-C). However, more recently, it has been recognized that patients with PSP can present with truncal and limb ataxia as their initial symptom and/or main manifestation. (e-jmd.org)
- Autosomal recessive spinocerebellar ataxia-12 is a neurologic disorder characterized by onset of generalized seizures in infancy, delayed psychomotor development with mental retardation, and cerebellar ataxia. (nih.gov)
Disorders6
- We have demonstrated previously genetic heterogeneity within these disorders by excluding the disease locus from the documented spinocerebellar ataxia locus (SCA1) on chromosome 6p in a large Cuban founder population. (nih.gov)
- Here, we focused on three different types of ataxias, spinocerebellar ataxias type (SCAs) 2, 3, and 6, belonging to the polyglutamine (polyQ) family of neurodegenerative disorders. (elifesciences.org)
- Spinocerebellar ataxias (SCA) refer to a group of rare, genetic neurological disorders that cause loss of muscle control, coordination, and balance. (nih.gov)
- RESEARCH OBJECTIVES The hereditary ataxias, in general, encompass a variety of degenerative disorders, interchangeably referred to as spinocerebellar degenerations, that are difficult to classify due to limited knowledge of etiologic factors, variability of clinical manifestations, and limited correlation between clinical signs and postmortem changes. (nih.gov)
- The spinocerebellar ataxias are inherited neurodegenerative disorders affecting brain circuits involved in movement coordination. (grantome.com)
- The original estimates of dietary folate and vitamin B12 requirements and recommended dietary allowances (RDAs) were based on the amount needed to avoid manifest deficiency disorders (megaloblastic anemia, with sub-acute combined degeneration of the cord in the case of vitamin B12 deficiency) and on levels observed in populations. (healthjade.net)
Diseases1
- Distal axonopathy" is a term recently introduced to describe those diseases which are expressed as symmetrical, distal, axonal degeneration occurring concurrently in the peripheral nervous system (PNS) and in selected tracts of the central nervous system (CNS). (cdc.gov)
SCAs2
- In this strong study, the investigators examine the therapeutic ability of endurance exercise to disease in Drosophila models of the spinocerebellar ataxias types (SCAs) 2, 3, and 6. (elifesciences.org)
- The SCAs involve loss of structure and function (degeneration) of the cells of the hindbrain, which includes the cerebellum (the part that helps control muscle movement and balance), the brain stem and upper part of the spinal cord, and sometimes other parts of the nervous system. (nih.gov)
Amyotrophic Lateral S1
- Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration. (elsevierpure.com)
Ataxias type1
- Dysphagia in spinocerebellar ataxias type 1, 2, 3 and 6. (neurotree.org)
Onset3
- Infantile-onset spinocerebellar ataxia (IOSCA) is a hereditary neurological disorder with early and severe involvement of both the peripheral and central nervous systems. (nih.gov)
- When Do Symptoms of Infantile-onset spinocerebellar ataxia Begin? (nih.gov)
- Onset of system degenerations may span a lifetime but often begin in the first to second decade of life. (nih.gov)
Gene2
- Acanthocytosis has also been associated with the rare hypobetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration (HARP) syndrome, a disease of childhood akin to Hallervorden-Spatz disease and a defect in the gene for pantothenate kinase. (medscape.com)
- Mutations of the gene are implicated in a rare disorder called spinocerebellar ataxia 2 that causes loss of balance and coordination. (nih.gov)
Disease1
- In addition, the variety of eye and head movements' deficits suggests that, although the main neural degeneration in AOA2 affects the cerebellum, this disease affects other structures. (ox.ac.uk)
SCA21
- SCA2 (also known as olivopontocerebellar atrophy) involves vision problems, eye muscle control, and degeneration of the retina (the light-sensing part of the eye). (nih.gov)
Genetics1
- Recent studies of both the genetics and neuropathology of ALS have reinforced the understanding that while the syndrome of ALS by definition involves the motor system, wider frontotemporal degeneration may give rise to at least some degree of cognitive and behavioral dysfunction. (nih.gov)
Neurons2
- It describes the degeneration of neurons in specific areas of the brain: the cerebellum, pons, and inferior olives. (medscape.com)
- Motor symptoms occur as the result of degeneration of both upper and lower motor neurons. (nih.gov)
Symptoms1
- The location and extent of the degeneration determines the clinical picture, which by definition includes motor decline, and may include cognitive and/or behavioral symptoms as well. (nih.gov)
Nervous system1
- This presentation will summarize our clinical and pathological studies of the nervous system degeneration (distal dying-back axonopathy) in man and experimental animals produced by acrylamide monomer and certain hydrocarbon compounds (hexacarbons). (cdc.gov)
Refers1
- The term "spinocerebellar ataxia" refers to those ataxias that are inherited in an autosomal dominant manner. (nih.gov)
Rare1
- Scheuermann, a 55-year-old mother of two who became paralyzed in middle-age due to a rare neurological disorder known as spinocerebellar degeneration, became so adept at manipulating the arm developed by Johns Hopkins University Applied Physics Laboratory that her participation in the study was extended until October, when the electrode arrays were removed. (military.com)