6533b7d8fe1ef96bd126af57
RESEARCH PRODUCT
A novel compound heterozygous mutation in GALC associated with adult-onset Krabbe disease: case report and literature review
Salvatore IaconoElda Del GiudiceAlberta LeonVincenzo La BellaRossella Spatarosubject
MaleCellular and Molecular NeuroscienceHeterozygoteMutationGeneticsHumansSettore MED/26 - NeurologiaMiddle AgedGenetics (clinical)Compound heterozygous mutation GALC Adult-onset Krabbe disease Peripheral neuropathyGalactosylceramidaseLeukodystrophy Globoid Celldescription
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.
| year | journal | country | edition | language |
|---|---|---|---|---|
| 2021-11-13 |