[Adrenoleukodystrophy in the child and adrenomyeloneuropathy. Study of 2 families]

Neurophysiol Clin. 1989 Aug;19(4):311-25. doi: 10.1016/s0987-7053(89)80103-0.
[Article in French]

Abstract

Ten subjects from 2 families with adrenoleukodystrophy (ALD) and adrenomyeloneuropathy (AMN), hereditary X-linked diseases, were systematically explored. We performed endocrinological, biochemical assays and neurophysiological tests; the latter consisted of nerve conductions (CNV), Hoffmann's reflex and multimodal evoked potentials: visual (flash and pattern, VEP), brainstem auditory (BAEP) and somesthetic (SEP) using median nerve stimulation at the wrist. We only considered values above 2 SD. The purpose of our study was to determine the correlation between neurophysiological and endocrinological perturbations and the presence of pathological traits. Our results suggest that the correlation is high in diseased male patients, lower for the ALD carriers (BAEP, SEP and CNV were more frequently abnormal) and very low for the AMN carriers. Only the biochemical assays appeared to have any value for the characterization of female carriers of ALD and AMN.

Publication types

  • English Abstract

MeSH terms

  • Adolescent
  • Adrenal Gland Diseases / genetics*
  • Adrenal Gland Diseases / physiopathology
  • Adrenoleukodystrophy / genetics*
  • Adrenoleukodystrophy / physiopathology
  • Adult
  • Child
  • Child, Preschool
  • Diffuse Cerebral Sclerosis of Schilder / genetics*
  • Evoked Potentials, Auditory
  • Evoked Potentials, Somatosensory
  • Evoked Potentials, Visual
  • Female
  • Humans
  • Male
  • Median Nerve / physiopathology
  • Middle Aged
  • Neural Conduction
  • Pedigree
  • Spinal Cord Diseases / genetics*
  • Spinal Cord Diseases / physiopathology