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Neuropediatrics 2006; 37(4): 209-221
DOI: 10.1055/s-2006-924734
Rapid Communication

© Georg Thieme Verlag KG Stuttgart · New York

Natural History of Canavan Disease Revealed by Proton Magnetic Resonance Spectroscopy (1H‐MRS) and Diffusion-weighted MRI

C. G. Janson1 , 2 , 5 , S. W. J. McPhee1 , J. Francis1 , D. Shera4 , M. Assadi2 , A. Freese5 , P. Hurh3 , J. Haselgrove3 , D. J. Wang3 , L. Bilaniuk3 , P. Leone1
  • 1UMDNJ-Robert Wood Johnson Medical School, Dept. of Neurosurgery, Camden, NJ, United States
  • 2UMDNJ-Robert Wood Johnson Medical School, Dept. of Neurology, Camden, NJ, United States
  • 3Children's Hospital of Philadelphia, Dept. of Neuroradiology, Philadelphia, PA, United States
  • 4Children's Hospital of Philadelphia, Dept. of Biostatistics, Philadelphia, PA, United States
  • 5University of Minnesota, Department of Neurosurgery, Minneapolis, MN, United States
Further Information

Publication History

Received: February 9, 2006

Accepted after Revision: September 18, 2006

Publication Date:
20 December 2006 (online)

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Abstract

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 (1H-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.

Key words

Canavan disease - leukodystrophy - pediatric - brain - spectroscopy - magnetic resonance - NAA

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Christopher G. Janson, MD

The National Endowment for Alzheimer's Research

Box 772

Fairfield, CT 06824

USA

Email: janson@memorymatters.org

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