Phenotype-based latent class clustering of GBA1 mutation carriers with and without Parkinson disease

2018 ◽  
Vol 123 (2) ◽  
pp. S136
Author(s):  
Alta M. Steward ◽  
Laura Koehly ◽  
Taylor Lindstrom ◽  
Niraj Trivedi ◽  
Gianina Monestime ◽  
...  
2016 ◽  
Vol 97 (3) ◽  
pp. 372-379.e1 ◽  
Author(s):  
Serene S. Paul ◽  
Anne Thackeray ◽  
Ryan P. Duncan ◽  
James T. Cavanaugh ◽  
Theresa D. Ellis ◽  
...  

2010 ◽  
Vol 17 (01) ◽  
pp. 91-100 ◽  
Author(s):  
Elise Caccappolo ◽  
Roy N. Alcalay ◽  
Helen Mejia-Santana ◽  
Ming-X. Tang ◽  
Brian Rakitin ◽  
...  

2022 ◽  
Author(s):  
Gian Pal ◽  
Graziella Mangone ◽  
Emily J. Hill ◽  
Bichun Ouyang ◽  
Yuanqing Liu ◽  
...  

Author(s):  
Beatriz Alvarez-Castelao ◽  
Ana Gorostidi ◽  
Javier Ruíz-Martínez ◽  
Adolfo López de Munain ◽  
José G. Castaño

2021 ◽  
Author(s):  
Abigail Louise Higgins ◽  
Marco Toffoli ◽  
Stephen Mullin ◽  
Chiao-Yin Lee ◽  
Sofia Koletsi ◽  
...  

Mutations in GBA which are causative of Gaucher disease in their biallelic form, are the most common genetic risk factor for Parkinson disease. The diagnosis of Parkinson disease relies upon clinically defined motor features which appear after irreversible neurodegeneration. Prodromal symptoms of Parkinson disease may provide a means to predict latent pathology, years before the onset of motor features. Previous work has reported prodromal features of Parkinson disease in GBA mutation carriers, however this has been insufficiently sensitive to identify those that will develop Parkinson disease. The Remote Assessment of Parkinsonism Supporting Ongoing Development of Interventions in Gaucher Disease (RAPSODI) study assesses a large cohort of GBA mutation carriers, to aid development of procedures for earlier diagnosis of Parkinson disease.


2019 ◽  
Vol 85 (4) ◽  
pp. 593-599 ◽  
Author(s):  
Rachit Bakshi ◽  
Eric A. Macklin ◽  
Robert Logan ◽  
Musab M. Zorlu ◽  
Ning Xia ◽  
...  

2015 ◽  
Vol 72 (1) ◽  
pp. 58 ◽  
Author(s):  
Ilir Agalliu ◽  
Marta San Luciano ◽  
Anat Mirelman ◽  
Nir Giladi ◽  
Bjorg Waro ◽  
...  

Neurology ◽  
2012 ◽  
Vol 78 (6) ◽  
pp. 417-420 ◽  
Author(s):  
M. Anheim ◽  
A. Elbaz ◽  
S. Lesage ◽  
A. Durr ◽  
C. Condroyer ◽  
...  

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