Clinical course and prognosis in patients with Gaucher disease and parkinsonism.

ABSTRACT:

Objective

The goal of this study was to characterize the parkinsonian phenotype in patients with Gaucher disease (GD) who developed parkinsonism in order to evaluate clinical course and prognosis.

Methods

This is a retrospective observational study conducted at the Clinical Center of the NIH, Bethesda, MD, over a period of 10 years. The study included 19 patients with GD and parkinsonism. The severity of Gaucher and parkinsonian symptoms was determined from clinical data including physical, neurologic, pathologic, and neurocognitive evaluations, family histories, imaging studies, olfactory testing, and validated questionnaires.

Results

We found an earlier age at onset of parkinsonism and evidence of mild cognitive dysfunction in our cohort. Although the clinical cours

SUBMITTER: Lopez G 

PROVIDER: S-EPMC4830189 | biostudies-literature | 2016 Apr

REPOSITORIES: biostudies-literature