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[Clinical, multimodal electrophysiological study of a family with progressive cerebellar ataxia and late deafness and an autosomal recessive inheritance].

作者信息

Ragno M, Curatola L, Rossi R, Salvolini U

机构信息

Divisione di Neurologia, Ospedale C. e G. Mazzoni, Ascoli Piceno.

出版信息

Acta Neurol (Napoli). 1992 Aug-Dec;14(4-6):431-9.

PMID:1293986
Abstract

We described the clinical, electrophysiological (electromyography, sensory and motor nerve conduction study, somatosensory evoked potentials, brainstem auditory evoked potentials, visual evoked potentials) and neuroradiological (brain magnetic resonance) data in 3 siblings (2 males and 1 female, age range: 54-48 years) affected by autosomal recessive late onset cerebellar ataxia. The 3 patients showed at the electrophysiological examination: mild peripheral neuropathy, involvement of somatosensory pathways both on central and peripheral side. A mild cerebellar atrophy, most evident in the female more severely disabled, was found by magnetic resonance.

摘要

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