Regulation of Transcription Ontology

Last uploaded: December 4, 2018
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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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