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Papers of the Week

2022 Feb 24

Eur J Neurol

Incidental MRI findings leading to an unusual diagnosis: adult-onset Krabbe disease.


de Paiva A R B, Fonseca Neto R E, Afonso C, Freua F, Nóbrega P R, Kok F
Eur J Neurol. 2022 Feb 24.
PMID: 35212100.


Krabbe disease (KD), or globoid cell leukodystrophy (OMIM #245200), is an autosomal recessive lysosomal storage disease caused by mutations in GALC leading to galactocerebrosidase deficiency. Age of onset can vary from early infantile (3 to 6 months of age) to adulthood, which has been rarely reported. Little is known about the natural history and early manifestations of adult-onset Krabbe disease (AOKD).