Disease

Spinocerebellar Ataxia Type 2

About the Disease
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 is MECP2 and associated Rett syndrome. The drugs Riluzole and Glutamic acid have been mentioned in the context of this disorder. Affiliated tissues include eye, spinal cord and cerebellum, and related phenotypes are progressive cerebellar ataxia and abnormal substantia nigra morphology

Common Targets
KCND3 | Voltage-Gated Sodium Channel Complex | Glutamate Transporter (nonspecified subtype) | CHRNA7 | Sodium channel (nonspecified subtype) | PMPCA | ATXN2

疾病靶点研报
Spinocerebellar Ataxia Type 2

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