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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. SCAR2 is characterized by onset of impaired motor development and ataxic gait in early childhood. Additional features often include loss of fine motor skills, dysarthria, nystagmus, cerebellar signs, and delayed cognitive development with intellectual disability.

Acronym

SCAR2

Synonyms

Cerebellar granular cell hypoplasia and mental retardation, congenital
Cerebellar hypoplasia, non-progressive Norman type
Cerebelloparenchymal disorder III
CPD3
CPD III

Keywords

Neurodegeneration
Mental retardation