Molecular and Genetic Medicine

ISSN: 1747-0862

Open Access

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


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.


Share this article

Google Scholar citation report
Citations: 3919

Molecular and Genetic Medicine received 3919 citations as per Google Scholar report

Molecular and Genetic Medicine peer review process verified at publons

Indexed In

arrow_upward arrow_upward