@article{169d1c5fce7e445d9bc8ba4d59b69b28,
title = "GBA mutations in Parkinson disease: earlier death but similar neuropathological features",
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. 81 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.",
keywords = "Parkinson's disease, genetics, glucocerebrosidase, neuropathology",
author = "Adler, {C. H.} and Beach, {T. G.} and Shill, {H. A.} and Caviness, {J. N.} and E. Driver-Dunckley and Sabbagh, {M. N.} and A. Patel and Sue, {L. I.} and G. Serrano and Jacobson, {S. A.} and K. Davis and Belden, {C. M.} and Dugger, {B. N.} and Paciga, {S. A.} and Winslow, {A. R.} and Hirst, {W. D.} and Hentz, {J. G.}",
note = "Funding Information: This study was funded by the National Institute of Neurological Disorders and Stroke (U24 NS072026 National Brain and Tissue Resource for Parkinson{\textquoteright}s Disease and Related Disorders), the National Institute on Aging (P30 AG19610 Arizona Alzheimer{\textquoteright}s Disease Core Center), the Arizona Department of Health Services (contract 211002, Arizona Alzheimer{\textquoteright}s Research Center), the Arizona Biomedical Research Commission (contracts 4001, 0011, 05-901 and 1001 to the Arizona Parkinson{\textquoteright}s Disease Consortium), the Michael J. Fox Foundation for Parkinson{\textquoteright}s Research and Mayo Clinic Foundation. Funding Information: Financial disclosure for the previous 12 months: C. Adler has received research funding from the Michael J. Fox Foundation, the National Institutes of Health, the US Department of Defense and the Arizona Biomedical Research Foundation, and has received consulting fees from Abbvie, Acadia, Adamas, Cynap-sus, Impax, Ipsen, Jazz, Lundbeck and Merz. T. Beach has received research funding from GE Healthcare, Navidea Healthcare, the Michael J. Fox Foundation, the National Institutes of Health and the Arizona Biomedical Research Foundation, and has received consulting fees from Genentech. J. Hentz has received research funding from the Michael J. Fox Foundation, the National Institutes of Health and the Arizona Biomedical Research Foundation. H. Shill has received research support from Axovant, Cynapsus/ Sunovion, the Michael J. Fox Foundation, the National Institutes of Health, US World Meds and the Arizona Biomedical Research Foundation, and has received consulting fees from Abbvie, Cynapsus/Suno-vion and Lundbeck. J. Caviness has received research funding from Amarin Pharmaceuticals, the Michael J. Fox Foundation, the National Institutes of Health and the Arizona Biomedical Research Foundation, and has received consulting fees from Teva. E. Driver-Dunck-ley has received research funding from Abbive, BMS, C2N Diagnostics, Ipsen, EMD Serono, Allergan, the Michael J. Fox Foundation, the National Institutes of Health and the Arizona Biomedical Research Foundation. M. Sabbagh has received research funding from Lilly, Avid, Lundbeck, VTV Therapeutics, Biogen, Roche, Axovant, Merck, the Michael J. Fox Foundation, the National Institutes of Health and the Arizona Biomedical Research Foundation, and has received consulting fees from Biogen, Lilly, VTV Therapeutics, Roche, Bracket, Grifols and Genentech. A. Patel has nothing to disclose. L. Sue has received research funding from the Avid Radiopharmaceuticals/Eli Lilly Corporation, Bayer Healthcare, GE Healthcare, Navidea Healthcare, the Michael J. Fox Foundation, the National Institutes of Health and the Arizona Biomedical Research Foundation. S. Jacobson has received research funding from the Michael J. Fox Foundation, the National Institutes of Health and the Arizona Biomedical Research Foundation and has received royalties from American Psychiatric Publishing Inc. C. Belden has received research funding from Quintiles, Genentech, Pfizer-Wyeth, Avid, Elan, Eli-Lilly, Avanir, DART Neurosciences, Neuronix, Navidea, Functional Neuromodulation, Roche, Novartis, Abbvie, Janssen, Intracellular, Axovant, Biotie, Biogen, Astra Zeneca, Merck, TransTech Pharma, Takeda/Zinfindel, International Essential Tremor Foundation, the Michael J. Fox Foundation, the National Institutes of Health and the Arizona Biomedical Research Foundation. B. Dug-ger has received research funding from the Michael J. Fox Foundation, the National Institutes of Health, the Arizona Biomedical Research Foundation and Avid Radiopharmaceuticals. B. Dugger is currently supported by grants AG002132 (Core C) from the National Institutes of Health, as well as the CurePSP Foundation, the Henry M. Jackson Foundation (HU0001-15-2-0020) and Daiichi Sankyo Co. Ltd. W. Hirst, A. Winslow and S. Paciga were Pfizer employees (and shareholders) at the time of these studies. W. Hirst is currently employed by Biogen and A. Winslow is currently employed by the Orphan Disease Center at the University of Pennsylvania. W. Hirst has received research funding from the Michael J. Fox Foundation.",
year = "2017",
month = nov,
doi = "10.1111/ene.13395",
language = "English (US)",
volume = "24",
pages = "1363--1368",
journal = "European Journal of Neurology",
issn = "1351-5101",
publisher = "Wiley-Blackwell",
number = "11",
}