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

Affiliates Marie Ryan [1], Tatiana Zaldívar Vaillant [2], Russell L McLaughlin [3], Mark A Doherty [3], James Rooney [1], Mark Heverin [1], Joel Gutierrez [2], Gloria Esther 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], & Orla 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 Dublin

Journal Journal of Neurology, Neurosurgery, and Psychiatry
Summary This study compares the clinical characteristics of patients with ALS in clinics from Cuba, Uruguay, and Ireland. Moreover, this study characterizes the impact of known ALS-associated genetic variants on phenotypic manifestations within a Cuban population The mean age of onset was younger in the Cuban (53.0 years, 95% CI 50.4 to 55.6) and Uruguayan (58.2 years, 95% CI 56.5 to 60.0) populations compared with the Irish population (61.6 years, 95% CI 60.9 to 62.4). No differences in survival between populations were observed. A smaller proportion of Cuban persons living with ALS (1.7 %; 95% CI 0.6 to 4.1) carried the C9orf72 repeat expansion compared to Irish participants (9.9%; 95% CI 7.8 to 12.0).
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