Spinocerebellar Ataxia 7 (SCA7)

Alias:

Spinocerebellar Ataxia Type 7

Sca7

Cerebellar Syndrome-Pigmentary Maculopathy Syndrome

Ataxia with Pigmentary Retinopathy

Olivopontocerebellar Atrophy Iii

Opca Iii

Opca3

Opca with Macular Degeneration and External Ophthalmoplegia

Olivopontocerebellar Atrophy with Retinal Degeneration

Autosomal Dominant Cerebellar Ataxia, Type Ii

Autosomal Dominant Cerebellar Ataxia Type Ii

Autosomal Dominant Cerebellar Ataxia Type 2

Olivopontocerebellar Atrophy Type 3

Ataxia, Spinocerebellar, Type 7

Opca with Retinal Degeneration

Olivopontocerebellar Atrophy 3

Spinocerebellar Ataxia-7

Adca, Type Ii

Adcaii

Adca2

Favorite

Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Spinocerebellar Ataxia 7, also known as spinocerebellar ataxia type 7, is related to spinocerebellar ataxia 1 and olivopontocerebellar atrophy, and has symptoms including muscle spasticity, abnormal pyramidal signs and abnormality of extrapyramidal motor function. An important gene associated with Spinocerebellar Ataxia 7 is ATXN7 (Ataxin 7), and among its related pathways/superpathways are Deubiquitination and Chromatin organization. The drugs Riluzole and Neuroprotective Agents have been mentioned in the context of this disorder. Affiliated tissues include eye and cerebellum, and related phenotypes are hyperreflexia and ataxia

Related ID：

MALACARDS：SPN291

OMIM：164500

MESH：D020754