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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Publicado en:Ann Neurol
Main Authors: 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.
Formato: Artigo
Idioma:Inglês
Publicado: John Wiley and Sons Inc. 2016
Assuntos:
Research Articles
Acceso en liña: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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