分子遺伝医学

Expanding Glucocerebrosidase Involvement in Neurodegeneration: D419H Mutation Causing Dementia with Lewy Bodies

Abstract

Palermo G, Logerfo A, Nicoletti V, Bonuccelli U, Siciliano G, Mancuso M and Ceravolo R

Mutations in the glucocerebrosidase gene (GBA) are a common genetic risk factor for Dementia with Lewy Bodies (DLB). Hereby, we describe an Italian family with three DLB relatives harboring the D419H GBA variant. The pedigree analysis indicates a dominant inheritance pattern, suggesting that heterozygous GBA mutations may differently affect the risk of Parkinson-dementia syndromes. This should be taken into account for genetic counseling in relatives of patients with GBA associated Parkinson’s Disease/DLB.