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spinocerebellar ataxia type 12

Disease Summary
Associated Targets (1)
Tbio

1


GARD Rare
Mondo Description Spinocerebellar ataxia type 12 (SCA12) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by the presence of action tremor associated with relatively mild cerebellar ataxia. Associated pyramidal and extrapyramidal signs and dementia have been reported.
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. SCA12 is an autosomal dominant cerebellar ataxia (ADCA).
Mondo Term and Equivalent IDs
MONDO:0011439:  spinocerebellar ataxia type 12
GARD:0010476: 
MESH:C565790: 
NCIT:C154316: 
Orphanet:98762: 
SCTID:719208005: 
UMLS:C1858501: 
UMLS:C4304885: