You are using an outdated browser. Please upgrade your browser to improve your experience.

spinocerebellar ataxia type 28

Disease Summary
Associated Targets (1)
Tbio

1


GARD Rare
Mondo Description Spinocerebellar ataxia type 28 (SCA28) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by juvenile onset, slowly progressive cerebellar ataxia due to Purkinje cell degeneration.
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. SCA28 is an autosomal dominant cerebellar ataxia (ADCA) with a slow progressive course and no evidence of sensory involvement or cognitive impairment.
Mondo Term and Equivalent IDs
MONDO:0012450:  spinocerebellar ataxia type 28
GARD:0009951: 
MESH:C537205: 
Orphanet:101109: 
SCTID:715824008: 
UMLS:C1853249: 
UMLS:C4274988: