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Case Reports
Journal Article
A new variant of sensory ataxic neuropathy with autosomal dominant inheritance.
Brain 1995 December
We describe a Dutch family with sensory ataxia in two generations, late onset of symptoms (over the age of 40 years) and slow progression. Clinical, electrophysiological and sural nerve biopsy findings revealed a sensory polyneuropathy due to axonal degeneration of myelinated nerve fibres in four of five investigated siblings. Other neurological abnormalities in the affected family members consisted only of mild eye movement disturbances, probably due to cerebellar involvement. Five other family members were investigated and found unaffected. As the disease is inherited from the affected father to his sons and daughters, this is the first description of a probably autosomal dominant form of late onset hereditary sensory neuropathy with predominant sensory ataxia and minor other neurological abnormalities.
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