Spinocerebellar Ataxia 12 (SCA12)

Alias:
Spinocerebellar Ataxia Type 12
Sca12
Ataxia, Spinocerebellar, Type 12
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Spinocerebellar Ataxia 12, also known as spinocerebellar ataxia type 12, is related to spinocerebellar ataxia 36 and spinocerebellar ataxia 8, and has symptoms including dysdiadochokinesis and head tremor. An important gene associated with Spinocerebellar Ataxia 12 is PPP2R2B (Protein Phosphatase 2 Regulatory Subunit Bbeta), and among its related pathways/superpathways are Prion disease pathway and CAMKK2 pathway. Affiliated tissues include spinal cord and cerebellum, and related phenotypes are hyperreflexia and ataxia
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
All ages
<1/1000000
13
176
7

Medical Symptom

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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

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CAS Number
Status
Phase
No data available

Disease Model

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

References Literature

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PMID
Journal
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IF
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