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

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 intermedia...

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書誌詳細
出版年:Ann Neurol
主要な著者: Liu, Ganqiang, Boot, Brendon, Locascio, Joseph J., Jansen, Iris E., Winder‐Rhodes, Sophie, Eberly, Shirley, Elbaz, Alexis, Brice, Alexis, Ravina, Bernard, van Hilten, Jacobus J., Cormier‐Dequaire, Florence, Corvol, Jean‐Christophe, Barker, Roger A., Heutink, Peter, Marinus, Johan, Williams‐Gray, Caroline H., Scherzer, Clemens 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., Breen, D., Cummins, G., Evans, J., 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., Duong, K., Dong, X., Hutten, S.J., Amr, S.S., Shoulson, I., Tanner, C.M., Lang, A.E., Nalls, M.A.
フォーマット: Artigo
言語:Inglês
出版事項: John Wiley and Sons Inc. 2016
主題:
Research Articles
オンライン･アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC5244667/
https://ncbi.nlm.nih.gov/pubmed/27717005
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ana.24781
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