T2-hyperintense cerebellar cortex in Marinesco-Sjögren syndrome

Neurology. 2004 Dec 28;63(12):2448-9. doi: 10.1212/01.wnl.0000147324.74071.3e.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Aspartic Acid / analogs & derivatives*
  • Aspartic Acid / deficiency
  • Cerebellar Cortex / chemistry
  • Cerebellar Cortex / pathology*
  • Cerebral Cortex / chemistry
  • Child
  • Child, Preschool
  • Consanguinity
  • Diagnosis, Differential
  • Female
  • Humans
  • Infant
  • Inositol / analysis
  • Magnetic Resonance Imaging* / methods
  • Magnetic Resonance Spectroscopy
  • Male
  • Neuroaxonal Dystrophies / diagnosis
  • Spinocerebellar Degenerations / diagnosis
  • Spinocerebellar Degenerations / metabolism
  • Spinocerebellar Degenerations / pathology*

Substances

  • Aspartic Acid
  • Inositol
  • N-acetylaspartate