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Journal of Applied Genetics 46(3), 2005, pp. 337-339

Homozygote for mutation c.1204 + 1G > A of the ARSA gene presents with a late-infantile form of metachromatic leukodystrophy and a rare MRI white matter lesion type

Agnieszka Lugowska, Krystyna Szymanska, Tomasz Kmiec, Iwona Tarczynska, Barbara Czartoryska, Anna Tylki-Szymanska4, Elzbieta Jurkiewicz

Abstract: The metachromatic leukodystrophy (MLD) - causing mutation c.1204 + 1G > A damages an intron-exon splice site recognition sequence. This results in a complete loss of enzymatic activity of arylsulfatase A (ARSA) protein molecules. We have found a late-infantile type MLD-patient to be homozygous for this mutation, which was not reported earlier, but is consistent with previous suggestions. Interestingly, the cerebral magnetic resonance imaging (MRI) in this patient displayed linear or punctuate structures radiating in the demyelinated white matter, which resembled the patterns described in Pelizaeus-Merzbacher disease. It should be emphasised that whenever a cerebral MRI demonstrates the 'tigroid' or 'leopard-skin' demyelination pattern not only Pelizaeus-Merzbacher disease, but also metachromatic leukodystrophy diagnosis should be considered; this suggests the necessity of ARSA activity estimations in patients with such specific MRI patterns.

Key words: arylsulfatase A, lysosomal disorder, metachromatic leukodystrophy, magnetic resonance imaging.

Correspondence: A. Lugowska, Institute of Psychiatry and Neurology, Department of Genetics, Al. Sobieskiego 9, 02-957 Warszawa, Poland, e-mail:

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