SPINOCEREBELLAR DEGENERATION AND CEREBRAL HYPOMYELINATION IN A FAMILY

The proband is a 24-year-old woman who developed symptoms of a spinoce rebellar degeneration in early childhood, Neurological examination rev ealed normal cognitive function, optic atrophy, dysarthria, titubation , action tremors, increased deep tendon reflexes, Babinski's signs, an d a spastic scissoring gait. The magnetic resonance imaging (MRI) show ed an abnormal increased signal on long TR images involving white matt er throughout the cerebral hemispheres, most striking in the subcortic al white matter, and to a lesser degree in the brainstem, compatible w ith diffuse hypomyelinating or dysmyelinating diseases, Metabolic and chromosomal studies were normal. Her 49-year-old mother developed simi lar symptoms in her 20s and is now wheelchair-bound. Findings on neuro logical examination and MRI were similar to her daughter but more seve re, The proband's maternal grandfather had a female cousin who had a n eurological illness beginning in her 20s with similar symptoms and sig ns and died at the age of 44 years. Spinocerebellar degenerations are a group of syndromes with similar clinical manifestations but heteroge neous etiology, We report a family with spinocerebellar degeneration w ith distinct MRI findings compatible with hypomyelination or dysmyelin ation which has not heretofore been described. This family may represe nt a new spinocerebellar syndrome due to an abnormality of as yet an u ndetermined gene. (C) 1995 Wiley-Liss, Inc.