Spinocerebellar Ataxia, Autosomal Recessive 18 (SCAR18)

Alias:

Autosomal Recessive Spinocerebellar Ataxia 18

Scar18

Autosomal Recessive Congenital Cerebellar Ataxia Due to Ionotropic Glutamate Receptor Delta-2 Subunit Deficiency

Autosomal Recessive Congenital Cerebellar Ataxia Due to Grid2 Deficiency

Ataxia, Spinocerebellar, Autosomal Recessive, Type 18

Spinocerebellar Ataxia, Autosomal Recessive, 18

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Spinocerebellar Ataxia, Autosomal Recessive 18, also known as autosomal recessive spinocerebellar ataxia 18, is related to autosomal dominant cerebellar ataxia and autosomal recessive cerebellar ataxia, and has symptoms including cerebellar ataxia, dysdiadochokinesis and ataxia, truncal. An important gene associated with Spinocerebellar Ataxia, Autosomal Recessive 18 is GRID2 (Glutamate Ionotropic Receptor Delta Type Subunit 2). Affiliated tissues include spinal cord and cerebellum, and related phenotypes are limb ataxia and truncal ataxia

Related ID：

MALACARDS：SPN292

OMIM：616204

MESH：D002524