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Spinocerebellar ataxia type 28

rare

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.

Identifiers
MONDO:0012450 OMIM:610246Orphanet:101109
Causal genes
AFG3L2
Part of
Autosomal dominant cerebellar ataxia type IMitochondrial oxidative phosphorylation disorder
Also known as
SCA28 · spinocerebellar ataxia 28

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