Spinocerebellar Ataxia, Autosomal Recessive 8 (SCAR8)

Alias:

Autosomal Recessive Cerebellar Ataxia Type 1

Arca1

Autosomal Recessive Ataxia, Beauce Type

Scar8

Autosomal Recessive Spinocerebellar Ataxia 8

Recessive Ataxia of Beauce

Ataxia, Spinocerebellar, Autosomal Recessive, Type 8

Syne1-Related Autosomal Recessive Cerebellar Ataxia

Cerebellar Ataxia, Autosomal Recessive, Type 1

Spinocerebellar Ataxia, Autosomal Recessive, 8

Ataxia, Recessive, of Beauce

Ataxia Recessive of Beauce

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Spinocerebellar Ataxia, Autosomal Recessive 8, also known as autosomal recessive cerebellar ataxia type 1, is related to spinocerebellar ataxia, autosomal recessive 14 and aceruloplasminemia, and has symptoms including cerebellar ataxia and gait ataxia. An important gene associated with Spinocerebellar Ataxia, Autosomal Recessive 8 is SYNE1 (Spectrin Repeat Containing Nuclear Envelope Protein 1), and among its related pathways/superpathways are Meiosis and Interaction between L1 and Ankyrins. Affiliated tissues include spinal cord and cerebellum, and related phenotypes are ataxia and gait disturbance

Related ID：

MALACARDS：SPN207

OMIM：610743

MESH：C565188