Autosomal dominant cerebellar ataxia type I: Multimodal electrophysiological study and comparison between SCA1 and SCA2 patients

A. Perretti, L. Santoro, B. Lanzillo, A. Filla, G. De Michele, F. Barbieri, G. Martino, M. Ragno, S. Cocozza, G. Caruso

Research output: Contribution to journalArticlepeer-review

Abstract

A multimodal electrophysiological study was performed on 41 patients from 24 families with autosomal dominant cerebellar ataxia type I (ADCA I). Upper- and lower-limb motor evoked potentials (MEPs) to transcranial magnetic stimulation, median and tibial nerve somatosensory evoked potentials (Mn and Tn-SSEPs), orthodromic sensory (SCV) and motor conduction (MCV) velocity along median and tibial nerve, brainstem auditory evoked potentials (BAEPs), and visual evoked potentials (VEPs) were examined. Molecular analysis showed 2 SCA1 families and 2 families linked to the SCA2 locus. A sural nerve biopsy was performed in 5 patients. Brainstem damage of the auditory pathway was observed in 79% of patients examined. VEP abnormalities possibly of central origin were found in 52% of patients. MEP and SSEP abnormalities were differently distributed along the pathways examined: the longer the pathway, the higher the occurrence and severity of impairment. Peripheral dying-back neuropathy (confirmed by nerve bioptic data) was a frequent finding (56%). A progressive degenerative process involving first the longest tracts of the central motor and central and peripheral branches of somatosensory pathways is hypothesized in ADCA I. MEP abnormalities were more frequent in SCA1, and the sensory-motor neuropathy was more severe in SCA2.

Original languageEnglish
Pages (from-to)45-53
Number of pages9
JournalJournal of the Neurological Sciences
Volume142
Issue number1-2
DOIs
Publication statusPublished - Oct 1996

Keywords

  • dominant ataxia
  • evoked potentials
  • magnetic cortical stimulation
  • nerve conduction
  • spinocerebellar degeneration

ASJC Scopus subject areas

  • Ageing
  • Clinical Neurology
  • Surgery
  • Developmental Neuroscience
  • Neurology
  • Neuroscience(all)

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