spinocerebellar ataxia, autosomal recessive type 8(redirected from ataxia, recessive, of Beauce)
spinocerebellar ataxia, autosomal recessive type 8A form (OMIM:610743) of spinocerebellar ataxia characterised by developmental delay, psychomotor retardation, proportionate short stature, spastic ataxia, microcephaly, optic atrophy, speech defect, abnormal osmiophilic pattern of skin vessels and cerebellar atrophy.
Caused by defects of SYNE1, which encodes a protein that localises to the nuclear membrane and forms a linking network between organelles and the actin cytoskeleton to maintain the subcellular spatial organisation.
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