Atypical MRI findings in Canavan disease: A patient with a mild course

Cengiz Yalcinkaya*, C. Benbir, G. S. Salomons, E. Karaarslan, M. O. Rolland, C. Jakobs, M. S. Van Der Knaap

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review


Canavan disease is a severe, progressive leukodystrophy with an autosomal recessive inheritance, caused by aspartoacylase (ASPA) deficiency. The characteristic MRI features include diffuse, symmetrical white matter degeneration in the subcortical areas, with bilateral involvement of the globus pallidus. Proton magnetic resonance spectroscopy of the brain shows an increase in the concentration of N-acetylaspartic acid (NAA). The altered NAA metabolism has been traced to mutations in the gene encoding ASPA, located on chromosome 17 (17p13-ter). We present here a patient with a mild form of Canavan disease confirmed with the absent ASPA activity, atypical MRI findings, related to compound heterozygosity for a missense mutation, p.Tyr288Cys, and the known pan-European mutation, the p.Ala305Glu.

Original languageEnglish
Pages (from-to)336-339
Number of pages4
Issue number5
Publication statusPublished - Oct 2005

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