Phenotypic Heterogeneity among GBA p.R202X Carriers in Lewy Body Spectrum Disorders.

ABSTRACT: We describe the clinical and neuropathologic features of patients with Lewy body spectrum disorder (LBSD) carrying a nonsense variant, c.604C>T; p.R202X, in the glucocerebrosidase 1 (GBA) gene. While this GBA variant is causative for Gaucher's disease, the pathogenic role of this mutation in LBSD is unclear. Detailed neuropathologic evaluation was performed for one index case and a structured literature review of other GBA p.R202X carriers was conducted. Through the systematic literature search, we identified three additional reported subjects carrying the same GBA mutation, including one Parkinson's disease (PD) patient with early disease onset, one case with neuropathologically-verified LBSD, and one unaffected relative of a Gaucher's disease patient. Among th

SUBMITTER: Napolioni V 

PROVIDER: S-EPMC8774039 | biostudies-literature | 2022 Jan

REPOSITORIES: biostudies-literature