Variants associated with Gaucher disease in multiple system atrophy
作者： Jun Mitsui , Takashi Matsukawa , Hidenao Sasaki , Ichiro Yabe , Masaaki Matsushima
DOI: 10.1002/ACN3.185
关键词:
摘要: Objective : Glucocerebrosidase gene (GBA) variants that cause Gaucher disease are associated with Parkinson (PD) and dementia Lewy bodies (DLB). To investigate the role of GBA in multiple system atrophy (MSA), we analyzed a large case–control series. Methods We sequenced coding regions flanking splice sites 969 MSA patients (574 Japanese, 223 European, 172 North American) 1509 control subjects (900 315 294 American). focused solely on Gaucher-disease-causing variants. Results In Japanese series, found nine carriers among (1.65%) eight (0.89%). European three (1.35%) two (0.63%). American five (2.91%) one carrier (0.34%). Subjecting each series to Mantel–Haenszel analysis yielded pooled odds ratio (OR) 2.44 (95% confidence interval [CI], 1.14–5.21) P-value 0.029 without evidence significant heterogeneity. Logistic regression similar results, an adjusted OR 2.43 CI 1.15–5.37) 0.022. Subtype showed significantly cerebellar subtype (MSA-C) (P = 7.3 × 10−3). Interpretation The findings indicate that, as PD DLB, MSA.
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sci-hub.se 参考文章(37)
, Mutations in COQ2 in familial and sporadic multiple-system atrophy the multiple-system atrophy research collaboration The New England Journal of Medicine. ,vol. 369, pp. 233- 244 ,(2013) , 10.1056/NEJMOA1212115
Maria Grazia Spillantini, Marie Luise Schmidt, Virginia M.-Y. Lee, John Q. Trojanowski, Ross Jakes, Michel Goedert, α-Synuclein in Lewy bodies Nature. ,vol. 388, pp. 839- 840 ,(1997) , 10.1038/42166
S Tsuji, P V Choudary, B M Martin, S Winfield, J A Barranger, E I Ginns, Nucleotide sequence of cDNA containing the complete coding sequence for human lysosomal glucocerebrosidase. Journal of Biological Chemistry. ,vol. 261, pp. 50- 53 ,(1986) , 10.1016/S0021-9258(17)42428-8
Linda E. Nee, Manuel R. Gomez, James Dambrosia, Sherri Bale, Roswell Eldridge, Ronald J. Polinsky, Environmental— occupational risk factors and familial associations in multiple system atrophy: A preliminary investigation Clinical Autonomic Research. ,vol. 1, pp. 9- 13 ,(1991) , 10.1007/BF01826052
Petra Pasanen, Liisa Myllykangas, Maija Siitonen, Anna Raunio, Seppo Kaakkola, Jukka Lyytinen, Pentti J. Tienari, Minna Pöyhönen, Anders Paetau, A novel α-synuclein mutation A53E associated with atypical multiple system atrophy and Parkinson's disease-type pathology Neurobiology of Aging. ,vol. 35, ,(2014) , 10.1016/J.NEUROBIOLAGING.2014.03.024
Ammar Al-Chalabi, Alexandra Dürr, Nicholas W Wood, Michael H Parkinson, Agnes Camuzat, Jean-Sebastien Hulot, Karen E Morrison, Alan Renton, Sigurd D Sussmuth, Bernhard G Landwehrmeyer, Albert Ludolph, Yves Agid, Alexis Brice, P Nigel Leigh, Gilbert Bensimon, NNIPPS Genetic Study Group, None, Genetic Variants of the α-Synuclein Gene SNCA Are Associated with Multiple System Atrophy PLoS ONE. ,vol. 4, pp. e7114- 6 ,(2009) , 10.1371/JOURNAL.PONE.0007114
Koichi Wakabayashi, Makoto Yoshimoto, Shoji Tsuji, Hitoshi Takahashi, α-Synuclein immunoreactivity in glial cytoplasmic inclusions in multiple system atrophy Neuroscience Letters. ,vol. 249, pp. 180- 182 ,(1998) , 10.1016/S0304-3940(98)00407-8
Mia Horowitz, Metsada Pasmanik-Chor, Idit Ron, Edwin H. Kolodny, The enigma of the E326K mutation in acid β-glucocerebrosidase Molecular Genetics and Metabolism. ,vol. 104, pp. 35- 38 ,(2011) , 10.1016/J.YMGME.2011.07.002
Sonja W Scholz, Henry Houlden, Claudia Schulte, Manu Sharma, Abi Li, Daniela Berg, Anna Melchers, Reema Paudel, J Raphael Gibbs, Javier Simon‐Sanchez, Coro Paisan‐Ruiz, Jose Bras, Jinhui Ding, Honglei Chen, Bryan J Traynor, Sampath Arepalli, Ryan R Zonozi, Tamas Revesz, Janice Holton, Nick Wood, Andrew Lees, Wolfgang Oertel, Ullrich Wüllner, Stefano Goldwurm, Maria Teresa Pellecchia, Thomas Illig, Olaf Riess, Hubert H Fernandez, Ramon L Rodriguez, Michael S Okun, Werner Poewe, Gregor K Wenning, John A Hardy, Andrew B Singleton, Thomas Gasser, None, SNCA Variants Are Associated with Increased Risk for Multiple System Atrophy Annals of Neurology. ,vol. 65, pp. 610- 614 ,(2009) , 10.1002/ANA.21685
Shinsuke Fujioka, Kotaro Ogaki, Pawel M Tacik, Ryan J Uitti, Owen A Ross, Zbigniew K Wszolek, None, Update on novel familial forms of Parkinson’s disease and multiple system atrophy Parkinsonism & Related Disorders. ,vol. 20, ,(2014) , 10.1016/S1353-8020(13)70010-5