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spinocerebellar ataxia type 8

Disease Summary
Associated Targets (2)
Tdark

2


GARD Rare
Mondo Description Spinocerebellar ataxia type 8 (SCA8) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I) characterized by cerebellar ataxia and cognitive dysfunction in almost three quarters of patients and pyramidal and sensory signs in approximately a third of patients.
Uniprot Description 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. SCA8 is an autosomal dominant cerebellar ataxia (ADCA). It is caused by expansion of a CAG repeat in ATXN8, which is translated into a nearly pure polyglutamine protein which forms 1C2-positive inclusions in Purkinje cells and other neurons.
Mondo Term and Equivalent IDs
MONDO:0012116:  spinocerebellar ataxia type 8
GARD:0004956: 
Orphanet:98760: 
SCTID:715753001: 
UMLS:C1837454: 
UMLS:C4275024: