Spinocerebellar Ataxia, Autosomal Recessive 4 (SCAR4)

Spinocerebellar Ataxia, Autosomal Recessive 4(来自ICD-11)

别称:

Scar4

Scasi

Autosomal Recessive Cerebellar Ataxia-Saccadic Intrusion Syndrome

Spinocerebellar Ataxia with Saccadic Intrusions

Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome

Autosomal Recessive Spinocerebellar Ataxia 4

Spinocerebellar Ataxia 24

Sca24

Spinocerebellar Ataxia 24, Formerly

Sca24, Formerly

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Spinocerebellar Ataxia, Autosomal Recessive 4, also known as scar4, is related to spinocerebellar ataxia, autosomal recessive 24 and vps13d movement disorder, and has symptoms including muscular fasciculation, myoclonus and abnormal pyramidal signs. An important gene associated with Spinocerebellar Ataxia, Autosomal Recessive 4 is VPS13D (Vacuolar Protein Sorting 13 Homolog D), and among its related pathways/superpathways is Dopamine-DARPP32 Feedback onto cAMP Pathway. Affiliated tissues include spinal cord and cerebellum, and related phenotypes are abnormal pyramidal sign and gait ataxia

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