Abstract Details

Title A comparison of the clinical and genetic features of Amyotrophic Lateral Sclerosis across Latin American and European populations

Topic General Neurology

Presentation(s) P4 - Poster Session 4 (5:30 PM-6:30 PM)

Poster/Presentation
Number 7-002

Objective

To compare the clinical characteristics of patients with ALS within three clinic-based populations from Latin America and Europe and to determine the impact of known ALS-associated genetic variants on phenotypic manifestations within a Caribbean population.

Background The demographic and clinical features of ALS, a progressive neurodegenerative disorder, are not well described in Latin-American populations. Furthermore, little is known about the genetic composition of these populations, as regards known ALS-associated genes

Design/Methods Demographic and clinical information was collected on 115 Cuban, 220 Uruguayan and 1038 Irish ALS patients attending national specialist clinics through 1996-2017. All Cuban patients and 781 Irish patients underwent next-generation genome sequencing and were screened for C9orf72 repeat expansion.

Results Mean age of onset was younger in the Cuban (53.0 years, 95%CI 50.4, 55.6) and Uruguayan populations (58.2 years, 95%CI 56.5, 60.0) compared with the Irish population (61.6 years, 95%CI 60.9, 62.4). No differences in survival between populations were observed. 1.7% (95%CI 0.6, 4.1) of Cubans with ALS carried the C9orf72 repeat expansion compared with 9.9% (95%CI 7.8, 12.1) of Irish ALS patients (p=0.003). Other known variants identified in the Cuban population included ANG (1 patient), CHCHD10 (1 patient), and DCTN1 (3 patients).

Conclusions

This study is the first to describe the clinical characteristics of ALS in Cuban and Uruguayan populations and report differences between the Caribbean and European genetic signature in terms of known ALS-associated genetic variants. This novel clinical and genetic data adds to our understanding of ALS across different and understudied populations.

Authors/Disclosures
Orla Hardiman, MD, DSc, FRCPI, MRIA, FAAN (Trinity Biomedical Sciences Institute) PRESENTER	Dr. Hardiman has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Wave Pharmaceuticals. Dr. Hardiman has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Cytokinetics . Dr. Hardiman has received personal compensation in the range of $0-$499 for serving on a Scientific Advisory or Data Safety Monitoring board for Novartis. Dr. Hardiman has received personal compensation in the range of $10,000-$49,999 for serving as an Editor, Associate Editor, or Editorial Advisory Board Member for Taylor and Francis. The institution of Dr. Hardiman has received research support from Science Foundation Ireland. The institution of Dr. Hardiman has received research support from HRB.
	No disclosure on file
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Tatiana Zaldivar Vaillant, MD	No disclosure on file
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Giancarlo Logroscino, MD, PhD, FAAN (University of Bari)	Dr. Logroscino has nothing to disclose.
Carlos N. Ketzoian, MD (Clinica Neurologica Charcot)	No disclosure on file
Joel Gutierrez, MD (Cuban Institute of Neurology & Neurosurgery)	Dr. Gutierrez has nothing to disclose.
	No disclosure on file

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