title: Multimodal neurophysiological study of SCA2 and SCA3 autosomal dominant hereditary spinocerebellar ataxias.
abstract: BACKGROUND
  The spinocerebellar ataxias (SCA) are a group of genetic neurodegenerative diseases, clinically and pathologically heterogeneous, characterized by slowly progressive cerebellar ataxia.
  
  
  OBJECTIVE
  To identify the neural pathways affected neurophysiologically, correlate the findings with the size of CAG expansion and determine the contribution of neurophysiological studies in the differential diagnosis of the two most prevalent genotypes in Spain, SCA2 and SCA3.
  
  
  METHODS
  We examined 10 SCA2 and 12 SCA3 patients by electromyography, electroneurography motor and sensory, multimodal evoked potentials, transcranial magnetic stimulation, blink reflex and masseter reflex. In the statistical analysis linear regression studies were performed, and the, Spearman correlation coefficient and nonparametric test U of Mann-Whitney calculated.
  
  
  RESULTS
  We detected the presence of a predominantly sensory neuropathy in most SCA2 patients and in a minority of SCA3 patients; the central somatosensory pathway showed significant defects in both populations. We recorded a high incidence of brain-stem electrophysiological abnormalities in SCA2 patients; in particular, the masseter reflex was abnormal in all SCA2 patients, remaining intact in all SCA3 patients. The study of cortico-spinal pathway showed a greater percentage of abnormalities in both populations than in previous studies.
  
  
  CONCLUSIONS
  SCA2 is a model of sensory neuronopathy with central and peripheral axonopathy. Studies of brain-stem pathways show a higher incidence of abnormalities in SCA2 patients. SCA3 patients show major changes in the central somatosensory pathway with relative normality of the electroneurography. The masseter reflex was the most useful test in the differential diagnosis between both genotypes.
authors.affiliation: Servicio de Neurofisiología Clínica, Hospital Universitario Marqués de Valdecilla (IFIMAV), Centro de Investigación Biomédica en Red de Enfermedades Neurodegenerativas (CIBERNED), Santander, Spain. doctoraparadelo@hotmail.com
authors.forename: S
authors.initials: S
authors.lastname: Álvarez-Paradelo
authors.forename: A
authors.initials: A
authors.lastname: García
authors.forename: J
authors.initials: J
authors.lastname: Infante
authors.forename: J
authors.initials: J
authors.lastname: Berciano
mesh_terms: D000328:Adult; D000368:Aged; D003937:Diagnosis, Differential; D005260:Female; D005838:Genotype; D006801:Humans; D017827:Machado-Joseph Disease / Q000175:diagnosis / Q000235:genetics / Q000503:physiopathology*; D008297:Male; D008875:Middle Aged; D009424:Nervous System Physiological Phenomena; D020754:Spinocerebellar Ataxias / Q000175:diagnosis / Q000235:genetics / Q000503:physiopathology*