Spinocerebellar Ataxia 1 (SCA1)

Alias:
Spinocerebellar Ataxia Type 1
Sca1
Olivopontocerebellar Atrophy I
Olivopontocerebellar Atrophy Iv
Cerebelloparenchymal Disorder I
Spinocerebellar Atrophy I
Schut-Haymaker Type Opca
Menzel Type Opca
Opca Iv
Opca I
Opca1
Opca4
Cpd1
Olivopontocerebellar Atrophy Type 1
Ataxia, Spinocerebellar, Type 1
Olivopontocerebellar Atrophy 1
Type 1 Spinocerebellar Ataxia
Spinocerebellar Ataxia-1
Favorite
Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Spinocerebellar Ataxia 1, also known as spinocerebellar ataxia type 1, is related to spinocerebellar ataxia 10 and spinocerebellar ataxia 7, and has symptoms including muscle spasticity, abnormal pyramidal signs and abnormality of extrapyramidal motor function. An important gene associated with Spinocerebellar Ataxia 1 is ATXN1 (Ataxin 1), and among its related pathways/superpathways is Maturation of protein E. The drugs Glutamic acid and Lithium carbonate have been mentioned in the context of this disorder. Affiliated tissues include spinal cord and eye, and related phenotypes are peripheral neuropathy and progressive cerebellar ataxia
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
All ages
1-9/100000
42
518
183

Medical Symptom

#
Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

#
Gene
Function
Score
Mutations
No data available

Related Drugs

Name
CAS Number
Status
Phase
No data available

Disease Model

Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

Title
PMID
Journal
Year
IF
No Data Found!
Wechat
Comparison
Al agent
Tutorials
Back to top