Alexander disease with hypothermia, microcoria, and psychiatric and endocrine disturbances

Neurology. 2007 Apr 17;68(16):1322-3. doi: 10.1212/01.wnl.0000259543.95222.9d.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Age of Onset
  • Alexander Disease / complications*
  • Alexander Disease / physiopathology
  • Amenorrhea / etiology
  • Ataxia / etiology
  • Ataxia / pathology
  • Ataxia / physiopathology
  • Brain Stem / pathology
  • Brain Stem / physiopathology
  • DNA Mutational Analysis
  • Disease Progression
  • Endocrine System Diseases / etiology*
  • Endocrine System Diseases / physiopathology
  • Female
  • Genetic Markers / genetics
  • Genetic Predisposition to Disease / genetics
  • Glial Fibrillary Acidic Protein / genetics
  • Humans
  • Hypothermia / etiology*
  • Hypothermia / physiopathology
  • Magnetic Resonance Imaging
  • Mutation / genetics
  • Neurocognitive Disorders / etiology*
  • Neurocognitive Disorders / physiopathology
  • Ocular Motility Disorders / etiology
  • Ocular Motility Disorders / pathology
  • Ocular Motility Disorders / physiopathology
  • Pupil Disorders / etiology*
  • Pupil Disorders / physiopathology
  • Recurrence
  • Remission, Spontaneous
  • Spinal Cord / pathology
  • Spinal Cord / physiopathology
  • Tremor / etiology
  • Tremor / pathology
  • Tremor / physiopathology

Substances

  • Genetic Markers
  • Glial Fibrillary Acidic Protein