Involvement of the central nervous system in myotonic dystrophy

J Neurol Sci. 1994 Dec 20;127(2):179-85. doi: 10.1016/0022-510x(94)90071-x.

Abstract

To investigate the etiological factors responsible for intellectual impairment and mood changes in patients with myotonic dystrophy (DM), we evaluated 14 patients with DM by means of neuropsychological evaluation and magnetic resonance images (MRI). There were significant differences between patients and controls in regard to the Barthel index, Zung's depression scale, attention, verbal fluency and digit span. All patients had ventricular enlargement and white matter abnormalities on MRI. However, the severity was variable and there was no difference in neuropsychological testing between patients with mild ventricular dilatation and those with severe dilatation. On the other hand, significant differences were present between patients with mild white matter lesions and those with severe white matter abnormalities in regard to verbal fluency and attention. Neuropathologic examination of an autopsied brain showed an increase in the interfascicular space of the white matter which produced pallor on myelin staining. The present findings suggested that the white matter abnormalities were the cause of cognitive impairment among patients with DM.

Publication types

  • Clinical Trial

MeSH terms

  • Activities of Daily Living
  • Adolescent
  • Adult
  • Affect / physiology
  • Brain / pathology
  • Central Nervous System / pathology
  • Central Nervous System / physiopathology*
  • Cerebral Ventricles / pathology
  • Cognition Disorders / physiopathology
  • Cognition Disorders / psychology
  • Depression / psychology
  • Female
  • Humans
  • Magnetic Resonance Imaging
  • Male
  • Middle Aged
  • Myotonia / pathology
  • Myotonia / physiopathology*
  • Myotonia / psychology
  • Neuropsychological Tests
  • Tomography, X-Ray Computed