Rare Diseases Symptoms Automatic Extraction

Natural history of Canavan disease revealed by proton magnetic resonance spectroscopy (1H-MRS) and diffusion-weighted MRI.

[canavan disease]

Canavan disease is a childhood leukodystrophy caused by mutations in the gene for human aspartoacylase ( ASPA), which leads to an abnormal accumulation of the substrate molecule N-acetyl-aspartate (NAA) in the brain. This study was designed to model the natural history of Canavan disease using MRI and proton magnetic resonance spectroscopy ( (1)H-MRS). NAA and various indices of brain structure (morphology, quantitative T1, fractional anisotropy, apparent diffusion coefficient) were measured in white and gray matter regions during the progression of Canavan disease. A mixed-effects statistical model was used to fit all outcome measures. Longitudinal data from 28 Canavan patients were directly compared in each brain region with reference data obtained from normal, age-matched pediatric subjects. The resultant model can be used to non-invasively monitor the natural history of Canavan disease or related leukodystrophies in future studies involving drug, gene therapy, or stem cell treatments.

Diseases presenting "leukodystrophy" symptom

  • achondroplasia
  • adrenomyeloneuropathy
  • alexander disease
  • cadasil
  • canavan disease
  • carcinoma of the gallbladder
  • classical phenylketonuria
  • coats disease
  • fabry disease
  • gm1 gangliosidosis
  • krabbe disease
  • neonatal adrenoleukodystrophy
  • phenylketonuria
  • pyruvate dehydrogenase deficiency
  • wiskott-aldrich syndrome
  • x-linked adrenoleukodystrophy
  • zellweger syndrome

This symptom has already been validated