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

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 p yramidal 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.
Source: Neurogenetics - Category: Genetics & Stem Cells Source Type: research