Title

GBA Mutations in Parkinson Disease: Earlier Death But Similar Neuropathological Features

Department

neurology

Document Type

Article

Abstract

Background and purpose: Mutations in the glucocerebrosidase (GBA) gene are known to be a risk factor for Parkinson's disease (PD). Data on clinicopathological correlation are limited. The purpose of this study was to determine the clinicopathological findings that might distinguish PD cases with and without mutations in the GBA gene. Methods: Data from the Arizona Study of Aging and Neurodegenerative Disorders were used to identify autopsied PD cases that did or did not have a GBA gene mutation. Clinical and neuropathological data were compared. Results: Twelve PD cases had a GBA mutation and 102 did not. The GBA mutation cases died younger (76 vs. 81Â years of age) but there was no difference in disease duration or clinical examination findings. No neuropathological differences were found in total or regional semi-quantitative scores for Lewy-type synucleinopathy, senile plaques, neurofibrillary tangles, white matter rarefaction or cerebral amyloid angiopathy scores. Conclusions: In longitudinally assessed, autopsied PD cases, those with GBA mutations had a younger age at death but there was no evidence for clinical or neuropathological differences compared to cases without GBA mutations. Due to the small GBA group size, small differences cannot be excluded.

Medical Subject Headings

neurology

Publication Date

2017

Publication Title

European Journal of Neurology

ISSN

13515101

Volume

24

Issue

11

First Page

1363

Last Page

1368

Digital Object Identifier (DOI)

10.1111/ene.13395

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