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Article

Krabbe leukodystrophy in a selected population with high rate of late onset forms: longer survival linked to c.121G>A (p.Gly41Ser) mutation.

Clinical genetics - 1 Nov 2011

Fiumara A, Barone R, Arena A, Filocamo M, Lissens W, Pavone L, Sorge G

Abstract excerpt

Krabbe leukodystrophy (KD) is a neurodegenerative lysosomal disorder caused by mutations in the galactocerebrosidase (GALC) gene. Different clinical forms are described based on the age at onset. In reported series, the early infantile form (EIKD) accounts for more than 90% of the cases. The rarer late onset forms (LOKD) become manifest later than 6 months up to the adult age. We report clinical, imaging,...

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Identifiers

PMID: 21070211
DOI: 10.1111/j.1399-0004.2010.01572.x

Genes

GALC

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