期刊
EUROPEAN JOURNAL OF NEUROLOGY
卷 24, 期 11, 页码 1363-1368出版社
WILEY
DOI: 10.1111/ene.13395
关键词
genetics; glucocerebrosidase; neuropathology; Parkinson's disease
资金
- Michael J. Fox Foundation
- National Institutes of Health
- US Department of Defense
- Arizona Biomedical Research Foundation
- Abbvie
- Acadia
- Adamas
- Cynapsus
- Impax
- Ipsen
- Jazz
- Lundbeck
- Merz
- GE Healthcare
- Navidea Healthcare
- Genentech
- Axovant
- Cynapsus/Sunovion
- US World Meds
- Amarin Pharmaceuticals
- Teva
- BMS
- C2N Diagnostics
- EMD Serono
- Allergan
- Lilly
- Avid
- VTV Therapeutics
- Biogen
- Roche
- Merck
- Bracket
- Grifols
- Avid Radiopharmaceuticals/Eli Lilly Corporation
- Bayer Healthcare
- Quintiles
- Pfizer-Wyeth
- Elan
- Eli-Lilly
- Avanir
- DART Neurosciences
- Neuronix
- Navidea
- Functional Neuromodulation
- Novartis
- Janssen
- Intracellular
- Biotie
- Astra Zeneca
- TransTech Pharma
- Takeda/Zinfindel
- International Essential Tremor Foundation
- Avid Radiopharmaceuticals
- National Institutes of Health [AG002132]
- CurePSP Foundation
- Henry M. Jackson Foundation [HU0001-15-2-0020]
- Daiichi Sankyo Co. Ltd.
Background and purposeMutations 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. MethodsData 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. ResultsTwelve PD cases had a GBA mutation and 102 did not. The GBA mutation cases died younger (76 vs. 81years 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. ConclusionsIn 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.
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