Dominantly inherited early-onset non-progressive cerebellar ataxia syndrome

doi:10.1016/0387-7604(93)90124-Q

Brain and Development

Volume 15, Issue 5, September 1993, Pages 372-376

https://doi.org/10.1016/0387-7604(93)90124-Q Get rights and content

Abstract

A mother and daughter with suspected dominantly inherited, early-onset, non-progressive cerebellar ataxia syndrome have been reported. A review of the literature and the clinical features of the present cases revealed the nosologic features of this rare disorder, possibly dominant inheritance, floppiness and delayed milestones preceding early-onset mild cerebellar ataxia, non-progressive clinical course, retained or even brisk tendon reflexes without pyramidal tract involvement, normal or slightly delayed intelligence, and occasional nystagmus. Neuroimaging reveals selective involvement of the cerebellum, which is prominent in the vermis and the anterior part of the hemispheres.

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Dominantly inherited early-onset non-progressive cerebellar ataxia syndrome

Abstract

Pediatr Neurol

188 cases of non-progressive ataxic syndromes in childhood

Neuropaediatrie

Infantile cerebellar atrophy

Ann Neurol

Familial aplasia of the cerebellar vermis: possible X-linked dominant inheritance

Arch Neurol