Spinocerebellar Ataxia Type 3
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Learn About Spinocerebellar Ataxia Type 3

View Main Condition: Movement Disorders

What is the definition of Spinocerebellar Ataxia Type 3?
Spinocerebellar ataxia 3 (SCA3) is a rare, inherited form of ataxia. Signs and symptoms may begin between childhood and late adulthood and vary greatly. Symptoms may include slowly progressive clumsiness in the arms and legs; a manner of walking (gait) that may be mistaken for drunkenness; difficulty speaking and swallowing; impaired eye movements or vision; and lower limb spasticity. Some people with SCA3 develop dystonia or symptoms similar to those of Parkinson's disease; twitching of the face or tongue; nerve damage (neuropathy); or problems with urination and the autonomic nervous system. SCA3 is caused by a genetic change in the ATXN3 gene and inheritance is autosomal dominant.
What are the alternative names for Spinocerebellar Ataxia Type 3?
  • Spinocerebellar ataxia 3
  • Azorean neurologic disease
  • MJD
  • Machado-Joseph disease
  • Nigrospinodentatal degeneration
  • SCA3
  • Spinocerebellar atrophy type 3
  • Spinopontine atrophy
Who are the top Spinocerebellar Ataxia Type 3 Local Doctors?
Elite in Spinocerebellar Ataxia Type 3
Elite in Spinocerebellar Ataxia Type 3

East Ann Arbor Health & Geriatrics Center

4260 Plymouth Rd, Level 1, 
Ann Arbor, MI 
Languages Spoken:
English
Offers Telehealth

Henry L. Paulson, M.D., Ph.D., is the Lucile Groff Professor of Neurology for Alzheimer's Disease and Related Disorders in the Department of Neurology at the University of Michigan. Dr. Paulson joined the U-M faculty in 2007, and he currently directs the Michigan Alzheimer’s Disease Center (MADC) and co-direct the U-M Protein Folding Diseases Initiative.Dr. Paulson received his medical degree and doctorate in Cell Biology from Yale University in 1990. He then completed a neurology residency and neurogenetics/movement disorders fellowships at the University of Pennsylvania. In 1997, he joined the Neurology faculty at the University of Iowa, where he remained until 2007.Dr. Paulson's research and clinical interests concern the causes and treatment of age-related neurodegenerative diseases, with an emphasis on polyglutamine diseases, Alzheimer's disease and frontotemporal dementia. In 1997, his lab described abnormal protein aggregates in the polyglutamine diseases, which now are recognized as a pathological hallmark in this important class of inherited diseases. Using test tube, cell-based and animal models, he has contributed to advances in the understanding of various neurodegenerative diseases. His lab also has helped pioneer the use of gene silencing methods as potential therapy for the many neurological disorders caused by toxic mutant genes.Nationally, Dr. Paulson has directed popular courses at the American Academy of Neurology meetings, serves on the scientific advisory boards of numerous disease-related national organizations, and is past Chair of the Board of Scientific Counselors at the National Institute for Neurological Disorders and Stroke at the National Institutes of Health.Among his awards, Dr. Paulson is an Ellison Medical Foundation New Scholar in Aging, a semifinalist for the W.M. Keck Foundation Young Scholars in Medical Research, and a recipient of the Paul Beeson Physician Faculty Scholar in Aging Award from the American Federation for Aging Research. Dr. Paulson is rated as an Elite provider by MediFind in the treatment of Spinocerebellar Ataxia Type 3. He is also highly rated in 41 other conditions, according to our data. His clinical expertise encompasses Spinocerebellar Ataxia Type 3, Olivopontocerebellar Atrophy, Spinocerebellar Ataxia, and Drug Induced Dyskinesia. Dr. Paulson is board certified in Neurology.

Elite in Spinocerebellar Ataxia Type 3
Elite in Spinocerebellar Ataxia Type 3
Sao Paulo, SP, BR 

Jose Pedroso practices practicing medicine in Sao Paulo, Brazil. Mr. Pedroso is rated as an Elite expert by MediFind in the treatment of Spinocerebellar Ataxia Type 3. He is also highly rated in 50 other conditions, according to our data. His clinical expertise encompasses Spinocerebellar Ataxia Type 3, Spinocerebellar Ataxia, Olivopontocerebellar Atrophy, and Drug Induced Dyskinesia.

 
 
 
 
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Elite in Spinocerebellar Ataxia Type 3
Elite in Spinocerebellar Ataxia Type 3
Braga, PT 

Patricia Maciel practices practicing medicine in Braga, Portugal. Ms. Maciel is rated as an Elite expert by MediFind in the treatment of Spinocerebellar Ataxia Type 3. She is also highly rated in 5 other conditions, according to our data. Her clinical expertise encompasses Spinocerebellar Ataxia Type 3, Olivopontocerebellar Atrophy, Spinocerebellar Ataxia, and Striatonigral Degeneration Infantile.

What are the latest Spinocerebellar Ataxia Type 3 Clinical Trials?
A Phase 1/2a, Open-label Trial to Investigate the Safety, Tolerability, Pharmacokinetics and Pharmacodynamics of Multiple Ascending Doses of Intrathecally Administered VO659 in Participants With Spinocerebellar Ataxia Types 1, 3 and Huntington's Disease

Summary: The goal of this first-in-human clinical trial is to assess the safety and tolerability of four doses of a new study drug called VO659 in people with genetic disorders called spinocerebellar ataxia type 1, type 3 or Huntington's disease. Another aim is to determine the concentrations of the study drug in the cerebral spinal fluid and blood after single and multiple doses. Study drug will be admini...

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Coordination of Rare Diseases at Sanford

Summary: CoRDS, or the Coordination of Rare Diseases at Sanford, is based at Sanford Research in Sioux Falls, South Dakota. It provides researchers with a centralized, international patient registry for all rare diseases. This program allows patients and researchers to connect as easily as possible to help advance treatments and cures for rare diseases. The CoRDS team works with patient advocacy groups, in...

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Published Date: May 02, 2022
Published By: Genetic and Rare Diseases Informnation Center

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