Spinocerebellar ataxia 1
Other Names for this Disease
- Spinocerebellar ataxia type 1
- Olivopontocerebellar atrophy 1
- Cerebelloparenchymal disorder 1
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autosomal dominant fashion. There is currently not a cure for SCA1, but treatments are available to help manage symptoms. People with SCA1 typically survive 10 to 30 years after symptoms first appear.Spinocerebellar ataxia type 1 (SCA1) is a progressive movement disorder that typically begins in early adulthood (but can affect children and older adults as well). Early signs and symptoms includes problems with coordination and balance (ataxia), speech and swallowing difficulties, muscle stiffness, and weakness in the muscles that control eye movement. Over time, SCA1 may cause mental impairment, numbness, tingling, or pain in the arms and legs and uncontrolled muscle tensing, wasting, and twitches. SCA1 is caused by changes in the ATXN1 gene and is inherited in an
Last updated: 2/24/2016
- Spinocerebellar ataxia type 1. Genetic Home Reference. Reviewed February 2011; http://ghr.nlm.nih.gov/condition/spinocerebellar-ataxia-type-1. Accessed 2/24/2016.
- Bird TD. Hereditary Ataxia Overview. GeneReviews. November 26, 2014; http://www.ncbi.nlm.nih.gov/books/NBK1138/. Accessed 2/17/2015.
- Frequently asked questions about sporadic ataxia and multiple system atrophy (MSA). National Ataxia Foundation. https://www.ataxia.org/pdf/Sporadic.pdf. Accessed 2/24/2016.
- Mähler A et al.,. Increased catabolic state in spinocerebellar ataxia type 1 patients. Cerebellum. 2014 Aug; 13(4):440-6. Accessed 2/24/2016.
- Genetics Home Reference (GHR) contains information on Spinocerebellar ataxia 1. This website is maintained by the National Library of Medicine.
- The Merck Manuals Online Medical Library provides information on this condition for patients and caregivers.
- The National Center for Biotechnology Information (NCBI) was established in 1988 as a national resource for molecular biology information. Click on the link to view information on this topic.
- The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
- Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Spinocerebellar ataxia 1. Click on the link to view a sample search on this topic.