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000138892 0247_ $$2doi$$a10.1002/ana.24781
000138892 0247_ $$2pmid$$apmid:27717005
000138892 0247_ $$2pmc$$apmc:PMC5244667
000138892 0247_ $$2ISSN$$a0364-5134
000138892 0247_ $$2ISSN$$a1531-8249
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000138892 037__ $$aDZNE-2020-05214
000138892 041__ $$aEnglish
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000138892 1001_ $$aLiu, Ganqiang$$b0
000138892 245__ $$aSpecifically neuropathic Gaucher's mutations accelerate cognitive decline in Parkinson's.
000138892 260__ $$aHoboken, NJ$$bWiley-Blackwell$$c2016
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000138892 520__ $$aWe hypothesized that specific mutations in the β-glucocerebrosidase gene (GBA) causing neuropathic Gaucher's disease (GD) in homozygotes lead to aggressive cognitive decline in heterozygous Parkinson's disease (PD) patients, whereas non-neuropathic GD mutations confer intermediate progression rates.A total of 2,304 patients with PD and 20,868 longitudinal visits for up to 12.8 years (median, 4.1) from seven cohorts were analyzed. Differential effects of four types of genetic variation in GBA on longitudinal cognitive decline were evaluated using mixed random and fixed effects and Cox proportional hazards models.Overall, 10.3% of patients with PD and GBA sequencing carried a mutation. Carriers of neuropathic GD mutations (1.4% of patients) had hazard ratios (HRs) for global cognitive impairment of 3.17 (95% confidence interval [CI], 1.60-6.25) and a hastened decline in Mini-Mental State Exam scores compared to noncarriers (p = 0.0009). Carriers of complex GBA alleles (0.7%) had an HR of 3.22 (95% CI, 1.18-8.73; p = 0.022). By contrast, the common, non-neuropathic N370S mutation (1.5% of patients; HR, 1.96; 95% CI, 0.92-4.18) or nonpathogenic risk variants (6.6% of patients; HR, 1.36; 95% CI, 0.89-2.05) did not reach significance.Mutations in the GBA gene pathogenic for neuropathic GD and complex alleles shift longitudinal cognitive decline in PD into 'high gear.' These findings suggest a relationship between specific types of GBA mutations and aggressive cognitive decline and have direct implications for improving the design of clinical trials. Ann Neurol 2016;80:674-685.
000138892 536__ $$0G:(DE-HGF)POF3-345$$a345 - Population Studies and Genetics (POF3-345)$$cPOF3-345$$fPOF III$$x0
000138892 542__ $$2Crossref$$i2015-09-01$$uhttp://doi.wiley.com/10.1002/tdm_license_1.1
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000138892 650_7 $$0EC 3.2.1.45$$2NLM Chemicals$$aGlucosylceramidase
000138892 650_2 $$2MeSH$$aAged
000138892 650_2 $$2MeSH$$aAged, 80 and over
000138892 650_2 $$2MeSH$$aCognitive Dysfunction: etiology
000138892 650_2 $$2MeSH$$aCognitive Dysfunction: genetics
000138892 650_2 $$2MeSH$$aDisease Progression
000138892 650_2 $$2MeSH$$aFemale
000138892 650_2 $$2MeSH$$aGaucher Disease: complications
000138892 650_2 $$2MeSH$$aGaucher Disease: genetics
000138892 650_2 $$2MeSH$$aGlucosylceramidase: genetics
000138892 650_2 $$2MeSH$$aHumans
000138892 650_2 $$2MeSH$$aLongitudinal Studies
000138892 650_2 $$2MeSH$$aMale
000138892 650_2 $$2MeSH$$aMiddle Aged
000138892 650_2 $$2MeSH$$aParkinson Disease: complications
000138892 650_2 $$2MeSH$$aParkinson Disease: genetics
000138892 7001_ $$aBoot, Brendon$$b1
000138892 7001_ $$aLocascio, Joseph J$$b2
000138892 7001_ $$0P:(DE-2719)2813349$$aJansen, Iris E$$b3$$udzne
000138892 7001_ $$aWinder-Rhodes, Sophie$$b4
000138892 7001_ $$aEberly, Shirley$$b5
000138892 7001_ $$aElbaz, Alexis$$b6
000138892 7001_ $$aBrice, Alexis$$b7
000138892 7001_ $$aRavina, Bernard$$b8
000138892 7001_ $$avan Hilten, Jacobus J$$b9
000138892 7001_ $$aCormier-Dequaire, Florence$$b10
000138892 7001_ $$aCorvol, Jean-Christophe$$b11
000138892 7001_ $$aBarker, Roger A$$b12
000138892 7001_ $$0P:(DE-2719)2810728$$aHeutink, Peter$$b13$$udzne
000138892 7001_ $$aMarinus, Johan$$b14
000138892 7001_ $$aWilliams-Gray, Caroline H$$b15
000138892 7001_ $$0P:(DE-HGF)0$$aScherzer, Clemens R$$b16$$eCorresponding author
000138892 7001_ $$aProgression, International Genetics of Parkinson Disease$$b17
000138892 7001_ $$aScherzer, C.$$b18
000138892 7001_ $$aHyman, B. T.$$b19
000138892 7001_ $$aIvinson, A. J.$$b20
000138892 7001_ $$aTrisini-Lipsanopoulos, A.$$b21
000138892 7001_ $$aFranco, D.$$b22
000138892 7001_ $$aBurke, K.$$b23
000138892 7001_ $$aSudarsky, L. R.$$b24
000138892 7001_ $$aHayes, M. T.$$b25
000138892 7001_ $$aUmeh, C. C.$$b26
000138892 7001_ $$aGrowdon, J. H.$$b27
000138892 7001_ $$aSchwarzschild, M. A.$$b28
000138892 7001_ $$aHung, A. Y.$$b29
000138892 7001_ $$aFlaherty, A. W.$$b30
000138892 7001_ $$aWills, A-M$$b31
000138892 7001_ $$aMejia, N. I.$$b32
000138892 7001_ $$aGomperts, S. N.$$b33
000138892 7001_ $$aKhurana, V.$$b34
000138892 7001_ $$aSelkoe, D. J.$$b35
000138892 7001_ $$aYi, T.$$b36
000138892 7001_ $$aPage, K.$$b37
000138892 7001_ $$aLiao, Z.$$b38
000138892 7001_ $$aBarker, R.$$b39
000138892 7001_ $$aFoltynie, T.$$b40
000138892 7001_ $$aWilliams-Gray, C. H.$$b41
000138892 7001_ $$aMason, S.$$b42
000138892 7001_ $$aWinder-Rhodes, S.$$b43
000138892 7001_ $$aBarker, R.$$b44
000138892 7001_ $$aWilliams-Gray, C. H.$$b45
000138892 7001_ $$aBreen, D.$$b46
000138892 7001_ $$aCummins, G.$$b47
000138892 7001_ $$aEvans, J.$$b48
000138892 7001_ $$aWinder-Rhodes, S.$$b49
000138892 7001_ $$aCorvol, J-C$$b50
000138892 7001_ $$aBrice, A.$$b51
000138892 7001_ $$aElbaz, A.$$b52
000138892 7001_ $$aMallet, A.$$b53
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000138892 7001_ $$aPico, F.$$b67
000138892 7001_ $$aRascol, O.$$b68
000138892 7001_ $$aForlani, S.$$b69
000138892 7001_ $$aLesage, S.$$b70
000138892 7001_ $$aTahiri, K.$$b71
000138892 7001_ $$avan Hilten, J. J.$$b72
000138892 7001_ $$aMarinus, J.$$b73
000138892 7001_ $$aLiao, Z.$$b74
000138892 7001_ $$aPage, K.$$b75
000138892 7001_ $$aFranco, D.$$b76
000138892 7001_ $$aDuong, K.$$b77
000138892 7001_ $$aYi, T.$$b78
000138892 7001_ $$aTrisini-Lipsanopoulos, A.$$b79
000138892 7001_ $$aDong, X.$$b80
000138892 7001_ $$aSudarsky, L. R.$$b81
000138892 7001_ $$aHutten, S. J.$$b82
000138892 7001_ $$aAmr, S. S.$$b83
000138892 7001_ $$aShoulson, I.$$b84
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000138892 7001_ $$0P:(DE-HGF)0$$aLang, A. E.$$b86
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