Spinocerebellar Ataxia 2 (SCA2)

Alias:
Spinocerebellar Ataxia Type 2
Sca2
Amyotrophic Lateral Sclerosis, Susceptibility to, 13
Amyotrophic Lateral Sclerosis 13
Spinocerebellar Degeneration with Slow Eye Movements
Cerebellar Degeneration with Slow Eye Movements
Amyotrophic Lateral Sclerosis Type 13
Olivopontocerebellar Atrophy Ii
Spinocerebellar Atrophy Ii
Wadia-Swami Syndrome
Opca2
Sdsem
Als13
Olivopontocerebellar Atrophy, Holguin Type
Olivopontocerebellar Atrophy Holguin Type
Olivopontocerebellar Atrophy Type 2
Spinocerebellar Ataxia, Cuban Type
Spinocerebellar Ataxia Cuban Type
Ataxia, Spinocerebellar, Type 2
Spinocerebellar Ataxia-2
Opca Ii
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Spinocerebellar Ataxia 2, also known as spinocerebellar ataxia type 2, is related to spinocerebellar ataxia 6 and spinocerebellar ataxia 7, and has symptoms including muscle rigidity, muscle spasticity and myoclonus. An important gene associated with Spinocerebellar Ataxia 2 is ATXN2 (Ataxin 2), and among its related pathways/superpathways are MECP2 and associated Rett syndrome and Maturation of protein E. The drugs Riluzole and Glutamic acid have been mentioned in the context of this disorder. Affiliated tissues include eye and spinal cord, and related phenotypes are progressive cerebellar ataxia and abnormal substantia nigra morphology
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
All ages
1-9/100000
26
325
160

Medical Symptom

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

Gene & Mutation

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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
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