Regulation of Gene Expression Ontolology

Last uploaded: December 16, 2015
Preferred Name

Spinocerebellar ataxia 6
Synonyms

SCA6

Definitions

(SCA6) - Spinocerebellar ataxia is a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCA6 is an autosomal dominant cerebellar ataxia (ADCA), mainly caused by expansion of a CAG repeat in the coding region of CACNA1A. There seems to be a correlation between the repeat number and earlier onset of the disorder.

ID

http://identifiers.org/omim/183086

altLabel

SCA6

definition

(SCA6) - Spinocerebellar ataxia is a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCA6 is an autosomal dominant cerebellar ataxia (ADCA), mainly caused by expansion of a CAG repeat in the coding region of CACNA1A. There seems to be a correlation between the repeat number and earlier onset of the disorder.

id

OMIM:183086

notation

OMIM:183086

prefLabel

Spinocerebellar ataxia 6

subClassOf

http://purl.obolibrary.org/obo/OGMS_0000031

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