Comparison of the clinical and genetic features of amyotrophic lateral sclerosis across Cuban, Uruguayan and Irish clinic-based populations

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Affiliates Maria Ryan [1], Tatiana Z Vaillant [2], Russell L McLaughlin [3], Mark A Doherty [3], James Rooney [1], Mark Heverin [1], Joel Gutierrez [2], Gloria E  Lara-Fernández [2], Mariana Pita Rodríguez [2], Jochen Hackembruch [4], Abayubá Perna [4], Maria Cristina Vazquez [4], Marco Musio [5], Carlos N Ketzoian [4], Giancarlo Logroscino [5,6], Oria Hardiman [1,7]

 

[1] Academic Unit of Neurology, Trinity College
[2] Instituto de Neurologia y Neurocirugia
[3] Smurfit Institute of Genetics, Trinity College
[4] Institute of Neurology, Hospital de Clínicas, School of Medicine, University of the Republic
[5] Unit of Neurodegenerative Diseases, Department of Clinical Research in Neurology, University of Bari ‘Aldo Moro’, Pia Fondazione Cardinale G Panico
[6] Department of Basic Medical Sciences, Neurosciences and Sense Organs, Universita degli Studi di Bari Aldo Moro
[7] Neurology, Trinity College

Journal Journal of Neurology, Neurosurgery & Psychiatry
Summary This study is the first to describe the clinical characteristics of ALS in Cuban and Uruguayan populations and report differences between the Cuban and Irish genetic signature in terms of known ALS-associated genetic variants. These novel clinical and genetic data add to our understanding of ALS across different and understudied populations.
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