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Definition

A form of spinocerebellar ataxia, a clinically and genetically heterogeneous group of cerebellar disorders due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCAR21 is characterized by cerebellar atrophy and ataxia with onset in early childhood. Patients also manifest recurrent episodes of liver failure, hepatic fibrosis and a peripheral neuropathy.

Acronym

SCAR21

Synonyms

Spinocerebellar ataxia, autosomal recessive 21, with hepatopathy

Keywords

Neurodegeneration
Mental retardation

 
Disclaimer

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Main funding by: National Institutes of Health