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01.04.2020 | Original Paper

Hereditary Ataxias in Cuba: A Nationwide Epidemiological and Clinical Study in 1001 Patients

verfasst von: Luis Velázquez-Pérez, Jacqueline Medrano-Montero, Roberto Rodríguez-Labrada, Nalia Canales-Ochoa, Jandy Campins Alí, Frank J Carrillo Rodes, Tania Rodríguez Graña, María O. Hernández Oliver, Raul Aguilera Rodríguez, Yennis Domínguez Barrios, Reydenis Torres Vega, Lissi Flores Angulo, Noharis Y. Cordero Navarro, Aldo A. Sigler Villanueva, Osiel Gámez Rodríguez, Ilya Sagaró Zambrano, Nayime Y. Navas Napóles, Javier García Zacarías, Orlando R. Serrano Barrera, María B. Ramírez Bautista, Annelié Estupiñán Rodríguez, Leonardo A. Guerra Rondón, Yaimeé Vázquez-Mojena, Yanetza González-Zaldivar, Luis E. Almaguer Mederos, Alejandro Leyva-Mérida, Cuban Hereditary Ataxias Network

Erschienen in: The Cerebellum | Ausgabe 2/2020

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Abstract

The prevalence estimations of hereditary ataxias are biased since most epidemiological studies are confined to isolated geographical regions and few nationwide studies are available. The study aims to assess the prevalence, distribution, and neurological features of the Cuban population with hereditary ataxias. A nationwide epidemiological study of hereditary ataxias was conducted in Cuba between March 2017 and June 2018. Patients were scheduled at the Cuban ataxia research center, various hospitals, or at their homes. Demographic and clinical variables were obtained through standardized questionnaires and validated clinical tools. Overall, 1001 patients were diagnosed with hereditary ataxias for a nationwide prevalence of 8.91 cases/100.000 inhabitants. Spinocerebellar ataxia type 2 (SCA2) was the commonest subtype, with highest prevalences at Holguín province (47.86/100.000), and a broad dissemination in the whole country. Most of neurological features were common between all SCA cohorts, but the frequencies of some of them varied between distinct subtypes. Within the SCA2 cohort, significant influences of long mutation size and higher disease duration over the muscle atrophy and oculomotor disorders were observed. Besides, higher disease durations were associated with resting tremor and dysphagia, whereas shorter disease durations were associated with hyperreflexia. The spreading of SCA2 to whole country and the documented raising of its prevalence set the rationales for higher-scope medical care and research strategies, supported in collaborative research networks. The wide epidemiological, clinical, and genetic characterization of this founder SCA2 population identifies this homogeneous cohort as an attractive source for the development of future clinical-genetic and therapeutic researches.

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Titel: Hereditary Ataxias in Cuba: A Nationwide Epidemiological and Clinical Study in 1001 Patients
verfasst von: Luis Velázquez-Pérez
Jacqueline Medrano-Montero
Roberto Rodríguez-Labrada
Nalia Canales-Ochoa
Jandy Campins Alí
Frank J Carrillo Rodes
Tania Rodríguez Graña
María O. Hernández Oliver
Raul Aguilera Rodríguez
Yennis Domínguez Barrios
Reydenis Torres Vega
Lissi Flores Angulo
Noharis Y. Cordero Navarro
Aldo A. Sigler Villanueva
Osiel Gámez Rodríguez
Ilya Sagaró Zambrano
Nayime Y. Navas Napóles
Javier García Zacarías
Orlando R. Serrano Barrera
María B. Ramírez Bautista
Annelié Estupiñán Rodríguez
Leonardo A. Guerra Rondón
Yaimeé Vázquez-Mojena
Yanetza González-Zaldivar
Luis E. Almaguer Mederos
Alejandro Leyva-Mérida
Cuban Hereditary Ataxias Network
Publikationsdatum: 01.04.2020
Verlag: Springer US
Erschienen in: The Cerebellum / Ausgabe 2/2020
Print ISSN: 1473-4222
Elektronische ISSN: 1473-4230
DOI: https://doi.org/10.1007/s12311-020-01107-9

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