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Specifically neuropathic Gaucher's mutations accelerate cognitive decline in Parkinson's

التفاصيل البيبلوغرافية
العنوان: Specifically neuropathic Gaucher's mutations accelerate cognitive decline in Parkinson's
المؤلفون: Liu, Ganqiang, Boot, Brendon, Cormier-Dequaire, Florence, Corvol, Jean-Christophe, Barker, Roger A, Heutink, Peter, Marinus, Johan, Williams-Gray, Caroline H, Scherzer, Clemens R, Progression, International Genetics of Parkinson Disease, Scherzer, C., Hyman, B. T., Locascio, Joseph J, Ivinson, A. J., Trisini-Lipsanopoulos, A., Franco, D., Burke, K., Sudarsky, L. R., Hayes, M. T., Umeh, C. C., Growdon, J. H., Schwarzschild, M. A., Hung, A. Y., Jansen, Iris E, Flaherty, A. W., Wills, A-M, Mejia, N. I., Gomperts, S. N., Khurana, V., Selkoe, D. J., Yi, T., Page, K., Liao, Z., Barker, R., Winder-Rhodes, Sophie, Foltynie, T., Williams-Gray, C. H., Mason, S., Winder-Rhodes, S., Breen, D., Cummins, G., Evans, J., Eberly, Shirley, Corvol, J-C, Brice, A., Elbaz, A., Mallet, A., Vidailhet, M., Bonnet, A-M, Bonnet, C., Grabli, D., Hartmann, A., Klebe, S., Elbaz, Alexis, Lacomblez, L., Mangone, G., Bourdain, F., Brandel, J-P, Derkinderen, P., Durif, F., Mesnage, V., Pico, F., Rascol, O., Forlani, S., Brice, Alexis, Lesage, S., Tahiri, K., van Hilten, J. J., Marinus, J., Duong, K., Ravina, Bernard, Dong, X., Hutten, S. J., Amr, S. S., Shoulson, I., Tanner, C. M., Lang, A. E., Nalls, M. A., van Hilten, Jacobus J
المساهمون: Human genetics, Amsterdam Neuroscience - Neurodegeneration, Neuro-Psycho Pharmacologie des Systèmes Dopimanégiques sous-corticaux (NPsy-Sydo), CHU Clermont-Ferrand-Université Clermont Auvergne [2017-2020] (UCA [2017-2020]), Centre de recherche en épidémiologie et santé des populations (CESP), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Université Paris-Sud - Paris 11 (UP11)-Hôpital Paul Brousse-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Versailles Saint-Quentin-en-Yvelines (UVSQ), Neurologie et thérapeutique expérimentale, Institut National de la Santé et de la Recherche Médicale (INSERM)-IFR70-Université Pierre et Marie Curie - Paris 6 (UPMC), Institut du Cerveau et de la Moëlle Epinière = Brain and Spine Institute (ICM), Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Hertie Institute for Clinical Brain Research [Tubingen], University of Tübingen, Université de Versailles Saint-Quentin-en-Yvelines (UVSQ)-Université Paris-Sud - Paris 11 (UP11)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Paul Brousse-Institut National de la Santé et de la Recherche Médicale (INSERM), Université Pierre et Marie Curie - Paris 6 (UPMC)-IFR70-Institut National de la Santé et de la Recherche Médicale (INSERM), Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Centre National de la Recherche Scientifique (CNRS), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS)
المصدر: Annals of Neurology, 80(5), 674-685. John Wiley and Sons Inc.
Annals of Neurology
Annals of Neurology, Wiley, 2016, 80 (5), pp.674-685. ⟨10.1002/ana.24781⟩
Liu, G, Boot, B, Locascio, J J, Jansen, I E, Winder-Rhodes, S, Eberly, S, Elbaz, A, Brice, A, Ravina, B, van Hilten, J J, Cormier-Dequaire, F, Corvol, J C, Barker, R A, Heutink, P, Marinus, J, Williams-Gray, C H, Scherzer, C R, Scherzer, C, Hyman, B T, Ivinson, A J, Trisini-Lipsanopoulos, A, Franco, D, Burke, K, Sudarsky, L R, Hayes, M T, Umeh, C C, Growdon, J H, Schwarzschild, M A, Hung, A Y, Flaherty, A W, Wills, A M, Mejia, N I, Gomperts, S N, Khurana, V, Selkoe, D J, Yi, T, Page, K, Liao, Z, Barker, R, Foltynie, T, Williams-Gray, C H, Mason, S, Winder-Rhodes, S, Barker, R, Williams-Gray, C H, Breen, D, Cummins, G, Evans, J, Winder-Rhodes, S, Corvol, J C, Brice, A, Elbaz, A, Mallet, A, Vidailhet, M, Bonnet, A M, Bonnet, C, Grabli, D, Hartmann, A, Klebe, S, Lacomblez, L, Mangone, G, Bourdain, F, Brandel, J P, Derkinderen, P, Durif, F, Mesnage, V, Pico, F, Rascol, O, Forlani, S, Lesage, S, Tahiri, K, van Hilten, J J, Marinus, J, Liao, Z, Page, K, Franco, D, Duong, K, Yi, T, Trisini-Lipsanopoulos, A, Dong, X, Sudarsky, L R, Hutten, S J, Amr, S S, Shoulson, I, Tanner, C M, Lang, A E & Nalls, M A 2016, ' Specifically neuropathic Gaucher's mutations accelerate cognitive decline in Parkinson's ', Annals of Neurology, vol. 80, no. 5, pp. 674-685 . https://doi.org/10.1002/ana.24781Test
Annals of neurology 80(5), 674-685 (2016). doi:10.1002/ana.24781
Annals of Neurology, 2016, 80 (5), pp.674-685. ⟨10.1002/ana.24781⟩
Annals of Neurology, 80(5), 674-685
2016, ' Specifically neuropathic Gaucher's mutations accelerate cognitive decline in Parkinson's ', Annals of Neurology, vol. 80, no. 5, pp. 674-685 . https://doi.org/10.1002/ana.24781Test
سنة النشر: 2016
مصطلحات موضوعية: Male, 0301 basic medicine, Oncology, medicine.medical_specialty, [SDV.NEU.NB]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]/Neurobiology, Disease, medicine.disease_cause, genetics [Glucosylceramidase], etiology [Cognitive Dysfunction], 03 medical and health sciences, 0302 clinical medicine, Parkinson Disease/complications, genetics [Parkinson Disease], Internal medicine, Genetic variation, medicine, Humans, Cognitive Dysfunction/etiology, ddc:610, Longitudinal Studies, Cognitive decline, Allele, ComputingMilieux_MISCELLANEOUS, Aged, Aged, 80 and over, Genetics, genetics [Gaucher Disease], Mutation, [SDV.NEU.PC]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]/Psychology and behavior, Proportional hazards model, [SCCO.NEUR]Cognitive science/Neuroscience, Hazard ratio, genetics [Cognitive Dysfunction], [SDV.NEU.SC]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]/Cognitive Sciences, Middle Aged, Confidence interval, 3. Good health, 030104 developmental biology, Neurology, Glucosylceramidase/genetics, Disease Progression, Glucosylceramidase, Female, Neurology (clinical), complications [Gaucher Disease], complications [Parkinson Disease], Gaucher Disease/complications, Psychology, 030217 neurology & neurosurgery
الوصف: OBJECTIVE: We 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.METHODS: 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.RESULTS: 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.INTERPRETATION: 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.
وصف الملف: application/pdf
اللغة: English
تدمد: 0364-5134
1531-8249
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::698967e53ffd75c50c47b468f7475410Test
https://research.vumc.nl/en/publications/a5e19353-57a9-43e9-98a2-1aafe03548fbTest
حقوق: OPEN
رقم الانضمام: edsair.doi.dedup.....698967e53ffd75c50c47b468f7475410
قاعدة البيانات: OpenAIRE
الوصف
تدمد:03645134
15318249