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Neurogenetics
Erschienen in:

10.01.2022 | Short Communication

A novel compound heterozygous mutation in GALC associated with adult-onset Krabbe disease: case report and literature review

verfasst von: Salvatore Iacono, Elda Del Giudice, Alberta Leon, Vincenzo La Bella, Rossella Spataro

Erschienen in: Neurogenetics | Ausgabe 2/2022

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Abstract

Krabbe disease (KD) is a rare autosomal recessive lipid storage leukodystrophy. It is caused by deficient enzyme activity resulting from mutations of the β-galactocerebrosidase (GALC) gene. KD is distinguished into subtypes based on the age of onset; these are early infantile, late infantile, juvenile, and adult-onset. We report a case of a 47-year-old Caucasian man with a 2-year history of muscle atrophy and weakness in both hands associated with pyramidal signs and mild spasticity in the lower limbs. An extensive work-up led this motor neuron disease-like disorder to be diagnosed as adult-onset KD. The patient was found to be compound heterozygous for two GALC mutations (p.G286D and p.Y490N). These two rare missense mutations have previously been reported with other heterozygous mutations. However, their co-occurrence in a KD patient is novel. From the perspective of this case, we review the current literature on compound heterozygous mutations in adult-onset KD and their phenotypic variability.
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Metadaten
Titel
A novel compound heterozygous mutation in GALC associated with adult-onset Krabbe disease: case report and literature review
verfasst von
Salvatore Iacono
Elda Del Giudice
Alberta Leon
Vincenzo La Bella
Rossella Spataro
Publikationsdatum
10.01.2022
Verlag
Springer Berlin Heidelberg
Erschienen in
Neurogenetics / Ausgabe 2/2022
Print ISSN: 1364-6745
Elektronische ISSN: 1364-6753
DOI
https://doi.org/10.1007/s10048-021-00682-1

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