Machado-Joseph Disease
Medicine in Literature
Sister Mary Joseph's Nodule
Umbilicus
Nobel Prize
Neurology
Olivopontocerebellar Atrophies
Cerebellar Ataxia
Spinocerebellar Degenerations
Striatonigral Degeneration
Dysarthria
Basal Ganglia Diseases
Multiple System Atrophy
Conserved domains and lack of evidence for polyglutamine length polymorphism in the chicken homolog of the Machado-Joseph disease gene product ataxin-3. (1/150)
Ataxin-3 is a protein of unknown function which is mutated in Machado-Joseph disease by expansion of a genetically unstable CAG repeat encoding polyglutamine. By analysis of chicken ataxin-3 we were able to identify four conserved domains of the protein and detected widespread expression in chicken tissues. In the first such analysis in a non-primate species we found that in contrast to primates, the chicken CAG repeat is short and genetically stable. (+info)Age related axonal neuropathy in spinocerebellar ataxia type 3/Machado-Joseph disease (SCA3/MJD). (2/150)
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)Evidence for proteasome involvement in polyglutamine disease: localization to nuclear inclusions in SCA3/MJD and suppression of polyglutamine aggregation in vitro. (3/150)
Spinocerebellar ataxia type 3, also known as Machado-Joseph disease (SCA3/MJD), is one of at least eight inherited neurodegenerative diseases caused by expansion of a polyglutamine tract in the disease protein. Here we present two lines of evidence implicating the ubiquitin-proteasome pathway in SCA3/MJD pathogenesis. First, studies of both human disease tissue and in vitro models showed redistribution of the 26S proteasome complex into polyglutamine aggregates. In neurons from SCA3/MJD brain, the proteasome localized to intranuclear inclusions containing the mutant protein, ataxin-3. In transfected cells, the proteasome redistributed into inclusions formed by three expanded polyglutamine proteins: a pathologic ataxin-3 fragment, full-length mutant ataxin-3 and an unrelated GFP-polyglutamine fusion protein. Inclusion formation by the full-length mutant ataxin-3 required nuclear localization of the protein and occurred within specific subnuclear structures recently implicated in the regulation of cell death, promyelocytic leukemia antigen oncogenic domains. In a second set of experiments, inhibitors of the proteasome caused a repeat length-dependent increase in aggregate formation, implying that the proteasome plays a direct role in suppressing polyglutamine aggregation in disease. These results support a central role for protein misfolding in the pathogenesis of SCA3/MJD and suggest that modulating proteasome activity is a potential approach to altering the progression of this and other polyglutamine diseases. (+info)Study of three intragenic polymorphisms in the Machado-Joseph disease gene (MJD1) in relation to genetic instability of the (CAG)n tract. (4/150)
Intergenerational instability is one of the most important features of the disease-associated trinucleotide expansions, leading to variation in size of the repeat among and within families, which manifests as variable age at onset and severity, and is probably the basis for the occurrence of anticipation. Several factors are known to affect the degree of instability, namely the type of repeated sequence, its initial size, the presence or absence of interruptions in the repetitive tract and the gender of the transmitting parent. A recent study demonstrated the effect of an intragenic polymorphism (C987GG/G987GG) in the Machado-Joseph disease causative gene, immediately downstream of the CAG repeat, on the intergenerational instability of the expanded repeat. Surprisingly, there was an effect not only of the specific allele in cis to the disease chromosome, but also of the allele on the normal chromosome, suggesting the existence of an interaction between the normal and expanded alleles that affects the fidelity of replication of the (CAG)n tract. This effect could be a direct effect of the polymorphism studied or, alternatively, this polymorphism could be in disequilibrium with some other flanking sequence which affects the instability of the repetitive (CAG)n tract. In order to confirm the previous results in a different population and to distinguish between a direct and indirect effect of the CGG/GGG polymorphism, we typed 70 parent-progeny pairs for which the variation in the (CAG)n length in the MJD1 gene was known, for three intragenic polymorphisms: C987GG/G987GG and two additional, newly described ones, TAA1118/TAC1118 and A669TG/G669TG. We also typed a control population of 125 individuals for the A669TG/G669TG, C987GG/G987GG and TAA1118/TAC1118 polymorphisms, in an attempt to identify any association between haplotype and (CAG)n length in normal chromosomes, suggestive of an instability-predisposing effect of the repeat-flanking sequences, which could have led to the origin of the MJD mutation in the human population. We confirmed the effect of the C987GG/G987GG polymorphism on intergenerational instability when present in trans. Our results suggest that this effect is restricted to a small region of the gene, immediately downstream of the CAG repeat, which includes this particular nucleotide substitution and the stop codon of the MJD1 cDNA, and is not a more widespread chromosomal effect. The lack of a significant association of any specific intragenic haplotype with larger CAG repeats in normal chromosomes, together with the absence of an effect of the intragenic haplotype in cis on the intergenerational instability of the expanded (CAG)n in MJD families does not indicate the existence of an instability-predisposing haplotype. (+info)Mendelian segregation of normal CAG trinucleotide repeat alleles at three autosomal loci. (5/150)
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)A genetic model for human polyglutamine-repeat disease in Drosophila melanogaster. (6/150)
To apply genetics to the problem of human polyglutamine-repeat disease, we recreated polyglutamine-repeat disease in Drosophila melanogaster. To do this, we expressed forms of the human gene encoding spinocerebellar ataxia type 3, also called Machado-Joseph disease (SCA-3/MJD). This gene is responsible for the most common form of human ataxia worldwide. Expression of a normal form of the MJD protein with 27 polyglutamines (MJDtr-Q27) had no phenotype. However, expression of a form of the protein with an expanded run of 78 glutamines (MJDtr-Q78) caused late onset progressive degeneration. In addition, the MJDtr-Q78 formed abnormal protein aggregates, or nuclear inclusions (NIs), whereas the control protein was cytoplasmic. These data indicate that the mechanisms of human polyglutamine-repeat disease are conserved to Drosophila. We are currently using this model to address potential mechanisms by which the mutant disease protein causes neural degeneration, as well as to define genes that can prevent polyglutamine-induced degeneration. By applying the power of Drosophila genetics to the problem of human polyglutamine-induced neural degeneration, we hope to identify ways to prevent and treat these diseases in humans. (+info)French Machado-Joseph disease patients do not exhibit gametic segregation distortion: a sperm typing analysis. (7/150)
Segregation distortion has been reported to occur in a number of the trinucleotide repeat disorders. On the basis of a sperm typing study performed in patients of Japanese descent with Machado-Joseph disease (MJD), it was reported that disease alleles are preferentially transmitted during meiosis. We performed a sperm typing study of five MJD patients of French descent and analysis of the pooled data shows a ratio of mutant to normal alleles of 379:436 (46.5:53.5%), which does not support meiotic segregation distortion. To confirm these results, sperm typing analysis was also performed using a polymorphic marker, D14S1050, closely linked to the MJD1 gene. Among 910 sperm analyzed, the allele linked to the disease chromosome was detected in 50.3% of the samples and the allele linked to the normal chromosome was found in 49.6% of the sperm. The difference in frequency of these two alleles is not significant ( P = 0.8423). Likelihood-based analysis of segregation distortion in the single sperm data using the SPERMSEG program also showed no support for segregation distortion at the gamete level in this patient population. The previous report on the Japanese patients also suggested that disease allele stability may be influenced by a trans effect of an intragenic polymorphism (987 G/C) in the wild-type allele. All of the French patients were heterozygous for this polymorphism. However, analysis of the variance in repeat number in sperm from the French MJD patients overlapped significantly with the variance in repeat number observed in the C/C homozygous Japanese patients. (+info)Ataxin-3 with an altered conformation that exposes the polyglutamine domain is associated with the nuclear matrix. (8/150)
Spinocerebellar ataxia type-3 or Machado-Joseph disease (SCA3/MJD) is a member of the CAG/polyglutamine repeat disease family. In this family of disorders, a normally polymorphic CAG repeat becomes expanded, resulting in expression of an expanded polyglutamine domain in the disease gene product. Experimental models of polyglutamine disease implicate the nucleus in pathogenesis; however, the link between intranuclear expression of expanded polyglutamine and neuronal dysfunction remains unclear. Here we demonstrate that ataxin-3, the disease protein in SCA3/MJD, adopts a unique conformation when expressed within the nucleus of transfected cells. The monoclonal antibody 1C2 is known preferentially to bind expanded polyglutamine, but we find that it also binds a fragment of ataxin-3 containing a normal glutamine repeat. In addition, expression of ataxin-3 within the nucleus exposes the glutamine domain of the full-length non-pathological protein, allowing it to bind the monoclonal antibody 1C2. Fractionation and immunochemical experiments indicate that this novel conformation of intranuclear ataxin-3 is not due to proteolysis, suggesting instead that association with nuclear protein(s) alters the structure of full-length ataxin-3 which exposes the polyglutamine domain. This conformationally altered ataxin-3 is bound to the nuclear matrix. The pathological form of ataxin-3 with an expanded polyglutamine domain also associates with the nuclear matrix. These data suggest that an early event in the pathogenesis of SCA3/MJD may be an altered conformation of ataxin-3 within the nucleus that exposes the polyglutamine domain. (+info)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.
"Medicine in Literature" is not a medical term per se, but rather a field of study that explores the representation and interpretation of medicine, health, and illness in literature. It is an interdisciplinary approach that combines literary analysis with medical humanities to understand the cultural, historical, and social contexts of medical practices, theories, and experiences as depicted in various forms of literature. This field often examines how literature reflects and shapes societal attitudes towards health, disease, and medical care, and how it can contribute to medical education and empathic understanding of patients' experiences.
"Sister Mary Joseph's nodule" is a term used in medicine to describe a palpable (able to be felt) or visible nodule or lump that is located at the umbilicus (belly button). It is usually indicative of an underlying malignancy, most commonly originating from the stomach or ovaries. The presence of this nodule suggests a poor prognosis as it often indicates advanced stage cancer. The term was coined by Dr. Hamilton Bailey in honor of Sister Mary Joseph, who first recognized the association between umbilical nodules and internal malignancies during her work as a surgical nurse with Dr. William Mayo in the early 20th century.
The umbilicus, also known as the navel, is the scar left on the abdominal wall after the removal of the umbilical cord in a newborn. The umbilical cord connects the developing fetus to the placenta in the uterus during pregnancy, providing essential nutrients and oxygen while removing waste products. After birth, the cord is clamped and cut, leaving behind a small stump that eventually dries up and falls off, leaving the umbilicus. In adults, it typically appears as a slight depression or dimple on the abdomen.
"History, 19th Century" is not a medical term or concept. It refers to the historical events, developments, and figures related to the 1800s in various fields, including politics, culture, science, and technology. However, if you are looking for medical advancements during the 19th century, here's a brief overview:
The 19th century was a period of significant progress in medicine, with numerous discoveries and innovations that shaped modern medical practices. Some notable developments include:
1. Edward Jenner's smallpox vaccine (1796): Although not strictly within the 19th century, Jenner's discovery laid the foundation for vaccination as a preventive measure against infectious diseases.
2. Germ theory of disease: The work of Louis Pasteur, Robert Koch, and others established that many diseases were caused by microorganisms, leading to the development of antiseptic practices and vaccines.
3. Anesthesia: In 1842, Crawford Long first used ether as an anesthetic during surgery, followed by the introduction of chloroform in 1847 by James Simpson.
4. Antisepsis and asepsis: Joseph Lister introduced antiseptic practices in surgery, significantly reducing postoperative infections. Later, the concept of asepsis (sterilization) was developed to prevent contamination during surgical procedures.
5. Microbiology: The development of techniques for culturing and staining bacteria allowed for better understanding and identification of pathogens.
6. Physiology: Claude Bernard's work on the regulation of internal body functions, or homeostasis, contributed significantly to our understanding of human physiology.
7. Neurology: Jean-Martin Charcot made significant contributions to the study of neurological disorders, including multiple sclerosis and Parkinson's disease.
8. Psychiatry: Sigmund Freud developed psychoanalysis, a new approach to understanding mental illnesses.
9. Public health: The 19th century saw the establishment of public health organizations and initiatives aimed at improving sanitation, water quality, and vaccination programs.
10. Medical education reforms: The Flexner Report in 1910 led to significant improvements in medical education standards and practices.
I'm sorry for any confusion, but "History, 20th Century" is a broad and complex topic that refers to the events, developments, and transformations that occurred throughout the world during the 1900s. It is not a medical term or concept. If you're interested in learning more about this historical period, I would recommend consulting a history textbook, reputable online resources, or speaking with a historian. They can provide detailed information about the political, social, economic, and cultural changes that took place during the 20th century.
I'm sorry for any confusion, but the term "Nobel Prize" is not a medical definition. The Nobel Prize is an international award given annually in several categories, and one of those categories is physiology or medicine. The Nobel Prize in Physiology or Medicine is awarded to individuals who have made significant discoveries of outstanding importance in the fields of life sciences and medicine. It is one of the most prestigious awards in these fields.
I believe there might be a bit of confusion in your question. A "history" in medical terms usually refers to the detailed account of a patient's symptoms, illnesses, and treatments received, which is used by healthcare professionals to understand their health status and provide appropriate care. It is not typically associated with a specific century like the 18th century.
If you are asking for information about the medical practices or significant developments in the field of medicine during the 18th century, I would be happy to provide some insight into that! The 18th century was a time of great advancement and change in the medical field, with many notable discoveries and innovations. Some examples include:
* The development of smallpox vaccination by Edward Jenner in 1796
* The discovery of oxygen by Joseph Priestley in 1774
* The invention of the thermometer by Gabriel Fahrenheit in 1714
* The publication of "An Inquiry into the Causes and Effects of the Variolae Vaccinae" by Edward Jenner in 1798, which helped to establish the concept of vaccination
* The founding of the Royal Society of Medicine in London in 1773
* The development of new surgical techniques and instruments, such as the use of tourniquets and catgut sutures.
I believe there might be a bit of confusion in your question. A "history" in medical terms usually refers to the detailed account of a patient's symptoms, illnesses, and treatments received, which is used by healthcare professionals to understand their health status and provide appropriate care. It is not typically associated with a specific century like the 17th century.
If you are asking for information about the medical practices or significant developments in the field of medicine during the 17th century, I would be happy to provide some insight into that. The 17th century was a time of great advancement in medical knowledge and practice, with several key figures and events shaping the course of medical history.
Some notable developments in medicine during the 17th century include:
1. William Harvey's discovery of the circulation of blood (1628): English physician William Harvey published his groundbreaking work "De Motu Cordis" (On the Motion of the Heart and Blood), which described the circulatory system and the role of the heart in pumping blood throughout the body. This discovery fundamentally changed our understanding of human anatomy and physiology.
2. The development of the microscope (1600s): The invention of the microscope allowed scientists to observe structures that were previously invisible to the naked eye, such as cells, bacteria, and other microorganisms. This technology opened up new avenues of research in anatomy, physiology, and pathology, paving the way for modern medical science.
3. The establishment of the Royal Society (1660): The Royal Society, a prominent scientific organization in the UK, was founded during this century to promote scientific inquiry and share knowledge among its members. Many notable scientists and physicians, including Robert Hooke and Christopher Wren, were part of the society and contributed significantly to the advancement of medical science.
4. The Smallpox Vaccination (1796): Although this occurred near the end of the 18th century, the groundwork for Edward Jenner's smallpox vaccine was laid during the 17th century. Smallpox was a significant public health issue during this time, and Jenner's development of an effective vaccine marked a major milestone in the history of medicine and public health.
5. The work of Sylvius de le Boe (1614-1672): A Dutch physician and scientist, Sylvius de le Boe made significant contributions to our understanding of human anatomy and physiology. He was the first to describe the circulation of blood in the lungs and identified the role of the liver in metabolism.
These are just a few examples of the many advancements that took place during the 17th century, shaping the course of medical history and laying the foundation for modern medicine.
Neurology is a branch of medicine that deals with the study and treatment of diseases and disorders of the nervous system, which includes the brain, spinal cord, peripheral nerves, muscles, and autonomic nervous system. Neurologists are medical doctors who specialize in this field, diagnosing and treating conditions such as stroke, Alzheimer's disease, epilepsy, Parkinson's disease, multiple sclerosis, and various types of headaches and pain disorders. They use a variety of diagnostic tests, including imaging studies like MRI and CT scans, electrophysiological tests like EEG and EMG, and laboratory tests to evaluate nerve function and identify any underlying conditions or abnormalities. Treatment options may include medication, surgery, rehabilitation, or lifestyle modifications.
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.
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.
Machado-Joseph disease
Genetically modified animal
Genetically modified organism
Small interfering RNA
Ataxin 3
Conceição Bettencourt
Fleroxacin
Ataxin
Ubiquitin-interacting motif
Richard I. Morimoto
Annalisa Pastore
SDD-AGE
Groote Eylandt
Makassan contact with Australia
Rheobase
Cerebellum
Mark Purdey
Neurolixis
ATXN8OS
Anindilyakwa people
List of eponymous diseases
2016 in Brazil
Autosomal dominant cerebellar ataxia
Sephardic Jews
Anindilyakwa language
Alice Lazzarini
Olivopontocerebellar atrophy
Guilherme Karan
Truncal ataxia
MARCH5
Machado-Joseph disease - Wikipedia
Machado Joseph Disease
Antonyms for MACHADO JOSEPH AZOREAN DISEASE - Thesaurus.net
Patterns of Mitochondrial DNA Damage in Blood and Brain Tissues of a Transgenic Mouse Model of Machado-Joseph Disease |...
Functional genomics and biochemical characterization of the C. elegans orthologue of the Machado-Joseph disease protein ataxin...
Machado-Joseph Disease | Profiles RNS
Machado-Joseph disease type 2 - Global Genes
Spinocerebellar ataxia type 3: MedlinePlus Genetics
Combined Spinal-epidural Technique for Vaginal Hysterectomy in a Patient With Machado-Joseph Disease | Regional Anesthesia &...
What is the best way to keep walking and moving around for individuals with Machado-Joseph disease? A scoping review through...
DoH Digital Library: Sleep disorders among Aboriginal Australians with Machado-Joseph Disease: Quantitative results from a...
Olivopontocerebellar Atrophy Clinical Presentation: History, Physical, Causes
Research 2018
Olivopontocerebellar Atrophy Treatment & Management: Medical Care, Surgical Care, Consultations
PGT-M conditions - page 77 of 82 | HFEA
High intensity zone | Radiology Reference Article | Radiopaedia.org
Spinocerebellar ataxia type 14 AND humans[mesh] AND review[publication type] - Search Results - PubMed
Somnambulism | Harvard Catalyst Profiles | Harvard Catalyst
Highlights from the LHC | Faculdade de Ciências da Universidade de Lisboa
Publications | www.ibmc.up.pt
SMART: UIM domain annotation
Isabel Maria Nunes Correia (1A1F-C9F8-E978) | CIÊNCIAVITAE
Publications | www.ibmc.up.pt
Sephardic Genealogy: Caribbean
Could Beer Hops Help Prevent the Onset of Alzheimer's Disease? | Discover Magazine
Htt Mouse Gene Details | huntingtin | International Mouse Phenotyping Consortium
Identificação de receptores de serotonina como alvos terapêuticos para SCA3 - National Ataxia Foundation
Spinocerebellar Ataxia (SCA): An Overview | Syndromes: Rapid Recognition and Perioperative Implications, 2e |...
SCA38
- Machado-Joseph disease (MJD), also known as Machado-Joseph Azorean disease, Machado's disease, Joseph's disease or spinocerebellar ataxia type 3 (SCA3), is a rare autosomal dominantly inherited neurodegenerative disease that causes progressive cerebellar ataxia, which results in a lack of muscle control and coordination of the upper and lower extremities. (wikipedia.org)
- Machado Joseph's disease has multiple origins as SCA3 comes from haplotype of four different origins and was not from one origin in the Azores. (wikipedia.org)
- Machado-Joseph disease type 2 is a subtype of Machado-Joseph disease (SCA3/MJD see this term) with intermediate severity characterized by an intermediate age of onset cerebellar ataxia and external progressive ophthalmoplegia with variable pyramidal and extrapyramidal signs. (globalgenes.org)
- BACKGROUND: Machado-Joseph Disease (MJD), or Spinocerebellar Ataxia Type 3 (SCA3), is a genetic disorder that causes progressive muscle weakness, loss of motor control, ataxia and permanent physical disability. (nt.gov.au)
- 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)/Machado-Joseph disease was the most common dominant ataxia , followed by SCA2 and SCA6. (nih.gov)
- 2011). Parkinsonian phenotype in Machado-Joseph disease (MJD/SCA3): A two-case report . (up.pt)
- Mayo Clinic researchers, along with national and global collaborators, have developed a potential test for Machado-Joseph disease, or spinocerebellar ataxia type 3 (SCA3)-a disease that has no cure. (medicalxpress.com)
Parkinson's6
- Some symptoms, such as clumsiness and rigidity, make MJD commonly mistaken for drunkenness or Parkinson's disease. (wikipedia.org)
- Some individuals also have dystonia (sustained muscle contractions that cause twisting of the body and limbs, repetitive movements, abnormal postures, and rigidity) or symptoms similar to those of Parkinson's disease. (brainfacts.org)
- Sleepwalking, REM sleep behaviour disorder and overlap parasomnia in patients with Parkinson's disease. (harvard.edu)
- Sleepwalking in Parkinson's disease: a questionnaire-based survey. (harvard.edu)
- The genomes of these worms are similar to those of humans in important ways, making them a good substitute in lab experiments - particularly when studying degenerative diseases, like Alzheimer's and Parkinson's, as well as the aging process, say Airoldi and Palmioli. (discovermagazine.com)
- And they're also testing these extracts against the proteins that cause some of the negative effects related to Parkinson's disease and Machado-Joseph , a rare degenerative disease that causes a lack of muscle control. (discovermagazine.com)
Genetic6
- Ongoing research includes studies to better understand the genetic, molecular, and cellular mechanisms that underlie inherited neurodegenerative diseases such as MJD. (brainfacts.org)
- 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)
- We plan to obtain a Drosophila model of SCAN- 1 disease by applying a well-known genetic approach. (ataxia.org)
- 2016). DNA repair pathways underlie a common genetic mechanism modulating onset in polyglutamine diseases . (up.pt)
- Is Alzheimer's Disease Genetic: Could It Run In Your Family? (discovermagazine.com)
- Genetic counseling and predictive testing in Machado-Joseph disease. (bvsalud.org)
ATXN35
- The disease is caused by a mutation in the ATXN3 gene, which is located on chromosome 14 (14q32.1). (wikipedia.org)
- 2012). Sequence analysis of 5′ regulatory regions of the Machado-Joseph disease gene (ATXN3) . (up.pt)
- 2012). Transcript Diversity of Machado-Joseph Disease Gene (ATXN3) Is Not Directly Determined by SNPs in Exonic or Flanking Intronic Regions . (up.pt)
- 2010). Increased transcript diversity: Novel splicing variants of Machado-Joseph Disease gene (ATXN3) . (up.pt)
- 2010). The (CAG)n tract of Machado-Joseph Disease gene (ATXN3): A comparison between DNA and mRNA in patients and controls . (up.pt)
Azorean disease2
- For the term 'Machado Joseph Azorean Disease,' which is a hereditary condition that affects the nervous system, some antonyms could include 'health,' 'wellness,' and 'normalcy. (thesaurus.net)
- It's essential to understand antonyms to communicate effectively, and in the case of Machado Joseph Azorean Disease, antonyms can help us understand the qualities and abilities that this condition affects. (thesaurus.net)
Phenotype1
- Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes. (mousephenotype.org)
Ataxia6
- Machado-Joseph disease is a type of spinocerebellar ataxia and is the most common cause of autosomal-dominant ataxia. (wikipedia.org)
- Machado-Joseph disease (MJD), which is also called spinocerebellar ataxia type 3, is a rare hereditary ataxia (ataxia is a medical term meaning lack of muscle control). (brainfacts.org)
- Objective Machado-Joseph disease is a form of progressive spino-cerebellar ataxia with both bulbar and peripheral neurological manifestations. (bmj.com)
- Spinocerebellar ataxia represents a group of slow and progressive neurodegenerative diseases of varying inherited degrees of rarity, which is in contrast to a related group of neurological disorders that are acquired following traumatic injuries or other external agents. (mhmedical.com)
- Spinocerebellar Ataxia type 3, also known as Machado-Joseph disease, is caused by the expansion of a repeated DNA sequence within a specific gene. (neurologylive.com)
- CAG TRINUCLEOTIDE REPEAT EXPANSION in the Ataxin-3 gene coding region is associated with spinocerebellar ataxia-3 ( MACHADO-JOSEPH DISEASE ). (nih.gov)
SCA21
- 2009). Role of the disease in the psychological impact of pre-symptomatic testing for SCA2 and FAP ATTRV30M: Experience with the disease, kinship and gender of the transmitting parent . (up.pt)
Autophagy1
- Calpain Inhibition Is Protective in Machado-Joseph Disease Zebrafish Due to Induction of Autophagy. (ataxin.com)
Disorders3
- DoH Digital Library: Sleep disorders among Aboriginal Australians with Machado-Joseph Disease: Quantitative results from a multiple methods study to assess the experience of people living with the disease and their caregivers. (nt.gov.au)
- My primary research focus is on early and differential diagnosis of neurocognitive disorders, e. g. mild cognitive impairment, Alzheimer's disease, and Frontotemporal Disorders. (lu.se)
- Test your mettle each week with 3 questions that cover a variety of aspects in the field of neurology, with a focus on dementia and Alzheimer disease, epilepsy and seizure disorders, headache and migraine, movement disorders, multiple sclerosis, neuromuscular disorders, sleep disorders, and stroke and cerebrovascular disease. (neurologylive.com)
Sequeiros1
- In J. Sequeiros (Ed.), The Predictive Test of Machado-Joseph Disease (pp. 97-112). (bvsalud.org)
Gene3
- MJD is an autosomal dominant disease, meaning that if either parent gives the defective gene to a child, the child will show symptoms of the disease. (wikipedia.org)
- 165 disease terms (MeSH) has been reported with CAT gene. (cdc.gov)
- A knowledge graph of biological entities such as genes, gene functions, diseases, phenotypes and chemicals. (edu.sa)
Azores2
- citation needed] Flores and São Miguel are centers of the Machado-Joseph disease in the Azores. (wikipedia.org)
- 2008). Segregation distortion of wild-type alleles at the Machado-Joseph disease locus: A study in normal families from the Azores islands (Portugal) . (up.pt)
Mutation1
- Where an OPCA represents a known mutation, it does do so because it is identified with a specific SCA (in the case of dominant mutations) or another specific genetically defined disease. (medscape.com)
Instability1
- 2008). Cis-acting factors promoting the CAG intergenerational instability in Machado-Joseph disease . (up.pt)
Manifestations1
- Disease manifestations and environmental factors are driving factors. (nt.gov.au)
Tract1
- Hyperactive deep tendon reflexes and spasticity due to pyramidal tract dysfunction are present early in the course of the disease. (medscape.com)
Alzheimer's Disease4
- Could Beer Hops Help Prevent the Onset of Alzheimer's Disease? (discovermagazine.com)
- Though too much alcohol may damage your short-term memory, new research says that beer hops may aid in Alzheimer's disease prevention. (discovermagazine.com)
- Hopping Into the Research: Do Beer Hops Prevent Alzheimer's Disease? (discovermagazine.com)
- Journal of Alzheimer's Disease. (elsevierpure.com)
Onset3
- Physicians ask patients questions about the kind of symptoms relatives with the disease had, the progression and harshness of symptoms, and the ages of onset in family members. (wikipedia.org)
- The severity of the disease is related to the age of onset, with earlier onset associated with more severe forms of the disease. (brainfacts.org)
- 2011). The APOE ε 2 allele increases the risk of earlier age at onset in Machado-Joseph disease . (up.pt)
Orphanet2
- Orphanet Journal of Rare Diseases, 6 (1). (up.pt)
- The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER. (mousephenotype.org)
Progression1
- Identification of molecular biomarkers, accessible in a peripheral tissue such as the blood, is therefore of particular importance to allow the fine tracking of disease progression, starting at the preclinical stage, thus facilitating the detection of subtle therapeutic benefits during interventional therapeutic trials. (ataxia.org)
Disorder3
- Association of Sleepwalking and REM Sleep Behavior Disorder With Parkinson Disease in Men. (harvard.edu)
- REM behavior disorder and excessive daytime somnolence in Machado-Joseph disease (SCA-3). (harvard.edu)
- defects in Ataxin-3 cause the neurodegenerative disorder Machado-Joseph disease (MJD). (embl.de)
Molecular2
- The generation of an in vivo model of SCA35 can be of use to better understand the molecular mechanisms induced by TG6 loss of function and find new therapeutic avenues for this disease. (ataxia.org)
- Interventional trials face several obstacles, namely those related with the clinical outcome measures used, which lack sensitivity for slow-progressing diseases such as MJD, and are devoid of utility in the preclinical stage, a time where molecular alterations are known to be already present. (ataxia.org)
Parkinson2
- In these cases, distinguishing OPCA from Parkinson disease may be difficult. (medscape.com)
- Sleepwalking in patients with Parkinson disease. (harvard.edu)
MeSH1
- Machado-Joseph Disease" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus, MeSH (Medical Subject Headings) . (uchicago.edu)
Term1
- Note: The number of publications displayed in this table will differ from the number displayed in the HuGE Literature Finder as the number in Genopedia reflects only the indexed disease term without children terms, but the number in the HuGE Literature Finder reflects all text searches of the disease term including the indexed term and corresponding children terms. (cdc.gov)
Type2
- DYSTONIA is prominent in younger patients (referred to as Type I Machado-Joseph Disease). (uchicago.edu)
- Newly diagnosed with Machado-Joseph disease type 2? (globalgenes.org)
Symptoms5
- citation needed] MJD can be diagnosed by recognizing the symptoms of the disease and by taking a family history. (wikipedia.org)
- MJD is incurable, but some symptoms of the disease can be treated. (brainfacts.org)
- MJD is a progressive disease, meaning that symptoms get worse with time. (brainfacts.org)
- The disease causes symptoms such as muscle weakness and coordination problems, so antonyms will be words that represent strength, coordination, and vitality. (thesaurus.net)
- And it's difficult to treat - the chemical processes associated with the disease actually begin several years before symptoms show up. (discovermagazine.com)
Patients1
- To date, anesthesia for patients affected by this disease has not been described. (bmj.com)
Rare2
- Federation of voluntary health organizations dedicated to helping people with rare "orphan" diseases and assisting the organizations that serve them. (brainfacts.org)
- Our RARE Concierge Services Guides are available to assist you by providing information, resources and connections as you navigate your rare disease journey. (globalgenes.org)
California1
- The Azorean Joseph family, living in California, were also diagnosed with MJD. (wikipedia.org)
Increases1
- This results in loss of large myelinated axons in peripheral nerves, which increases with age and disease duration. (medscape.com)
Markers1
- Disease Markers, 25 (2), 107 - 113. (up.pt)
Studies1
- The tiny fruit fly, Drosophila, is an organism extremely useful for studies on human biology, health and a wide range of pathologies including neurodegenerative diseases. (ataxia.org)
Families1
- A scoping review through the lens of Aboriginal families with Machado-Joseph disease in the Top End of Australia. (mjd.org.au)
Table2
- The table below shows human diseases associated to Htt by orthology or direct annotation . (mousephenotype.org)
- The table below shows human diseases predicted to be associated to Htt by phenotypic similarity . (mousephenotype.org)