Longitudinal evaluation of olfactory function in individuals with Gaucher disease and GBA1 mutation carriers with and without Parkinson's disease.

ABSTRACT:

Objective

Biallelic mutations in GBA1, which encodes the lysosomal enzyme glucocerebrosidase, cause the lysosomal storage disorder Gaucher disease (GD). In addition, mutations in GBA1 are the most common genetic risk factor for future development of Parkinson's disease (PD). However, most mutation carriers will never develop parkinsonism. Olfactory dysfunction is often a prodromal symptom in patients with PD, appearing many years prior to motor dysfunction. The purpose of this study was to assess olfactory function longitudinally in individuals with and without parkinsonism who carry at least one GBA1 mutation.

Methods

One hundred seventeen individuals who participated in a natural history study of GD at the National Institutes of Health were evaluated u

SUBMITTER: Lopez GJ 

PROVIDER: S-EPMC9622935 | biostudies-literature | 2022

REPOSITORIES: biostudies-literature