Spinocerebellar Ataxia, Autosomal Recessive 14 (SCAR14)

Alias:

Autosomal Recessive Spinocerebellar Ataxia 14

Scar14

Sparca1

Infantile-Onset Spinocerebellar Ataxia-Psychomotor Delay Syndrome

Spectrin-Associated Autosomal Recessive Cerebellar Ataxia Type 1

Cerebellar Ataxia, Autosomal Recessive, Spectrin-Associated, 1

Spectrin-Associated Autosomal Recessive Cerebellar Ataxia 1

Spectrin-Associated Autosomal Recessive Cerebellar Ataxia

Ataxia, Spinocerebellar, Autosomal Recessive, Type 14

Autosomal Recessive Spinocerebellar Ataxia Type 14

Spinocerebellar Ataxia, Autosomal Recessive, 14

Sparca

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Spinocerebellar Ataxia, Autosomal Recessive 14, also known as autosomal recessive spinocerebellar ataxia 14, is related to aceruloplasminemia and autosomal recessive cerebellar ataxia, and has symptoms including action tremor, dysdiadochokinesis and gait ataxia. An important gene associated with Spinocerebellar Ataxia, Autosomal Recessive 14 is SPTBN2 (Spectrin Beta, Non-Erythrocytic 2), and among its related pathways/superpathways is Mitochondrial calcium ion transport. Affiliated tissues include eye and spinal cord, and related phenotypes are progressive cerebellar ataxia and hyperreflexia

Related ID：

MALACARDS：SPN261

OMIM：615386

MESH：D002524