Leukoencephalopathy with ataxia, hypodontia, and hypomyelination

Neurology. 2005 Apr 26;64(8):1461-4. doi: 10.1212/01.WNL.0000158615.56071.E3.

Abstract

The authors describe four unrelated girls with a distinctive neurologic disorder with early-onset progressive ataxia and hypodontia with a characteristic pattern of delayed dentition. Cerebral MRI shows hypomyelinated white matter and cerebellar atrophy; 1H-MRS of white matter reveals a marked elevation of myo-inositol.

Publication types

  • Case Reports

MeSH terms

  • Age of Onset
  • Anodontia / complications*
  • Anodontia / pathology
  • Ataxia / complications*
  • Ataxia / pathology
  • Ataxia / physiopathology
  • Atrophy / complications*
  • Atrophy / pathology
  • Atrophy / physiopathology
  • Basal Ganglia / metabolism
  • Basal Ganglia / pathology
  • Basal Ganglia / physiopathology
  • Body Height / genetics
  • Brain / metabolism
  • Brain / pathology*
  • Brain / physiopathology
  • Cerebellum / metabolism
  • Cerebellum / pathology*
  • Cerebellum / physiopathology
  • Child
  • Child, Preschool
  • Choline / metabolism
  • Disease Progression
  • Female
  • Humans
  • Inositol / metabolism
  • Magnetic Resonance Imaging
  • Magnetic Resonance Spectroscopy
  • Myelin Sheath / metabolism
  • Myelin Sheath / pathology
  • Nerve Fibers, Myelinated / pathology
  • Nervous System Malformations / complications*
  • Nervous System Malformations / pathology
  • Nervous System Malformations / physiopathology
  • Syndrome
  • Telencephalon / metabolism
  • Telencephalon / pathology
  • Telencephalon / physiopathology

Substances

  • Inositol
  • Choline