دورية أكاديمية
Hereditary Ataxias in Cuba: A Nationwide Epidemiological and Clinical Study in 1001 Patients.
| العنوان: | Hereditary Ataxias in Cuba: A Nationwide Epidemiological and Clinical Study in 1001 Patients. |
|---|---|
| المؤلفون: | Velázquez-Pérez L; Centre for the Research and Rehabilitation of Hereditary Ataxias, Libertad Street, 26, Holguín, Cuba. velazq63@gmail.com.; Cuban Academy of Sciences, Cuba Street 460, Havana Vieja, Havana, Cuba. velazq63@gmail.com., Medrano-Montero J; Centre for the Research and Rehabilitation of Hereditary Ataxias, Libertad Street, 26, Holguín, Cuba., Rodríguez-Labrada R; Centre for the Research and Rehabilitation of Hereditary Ataxias, Libertad Street, 26, Holguín, Cuba., Canales-Ochoa N; Centre for the Research and Rehabilitation of Hereditary Ataxias, Libertad Street, 26, Holguín, Cuba., Campins Alí J; University Hospital 'Lucía Iñiguez', 'Celia Sanchez' Avenue 1, Holguín, Cuba., Carrillo Rodes FJ; Centre for the Research and Rehabilitation of Hereditary Ataxias, Libertad Street, 26, Holguín, Cuba.; University Hospital 'Lucía Iñiguez', 'Celia Sanchez' Avenue 1, Holguín, Cuba., Rodríguez Graña T; Medical University of Holguín, Lenin Avenue 4, Holguín, Cuba., Hernández Oliver MO; Pediatric Hospital 'José Luis Miranda', '26 de Julio' Avenue, Escambray, Santa Clara, Cuba., Aguilera Rodríguez R; Centre for the Research and Rehabilitation of Hereditary Ataxias, Libertad Street, 26, Holguín, Cuba., Domínguez Barrios Y; National Institute of Neurology and Neurosurgery 'Rafael Estrada', 29th Street 139, Vedado, Plaza de la Revolución, Havana, Cuba., Torres Vega R; Centre for the Research and Rehabilitation of Hereditary Ataxias, Libertad Street, 26, Holguín, Cuba., Flores Angulo L; Cuban Academy of Sciences, Cuba Street 460, Havana Vieja, Havana, Cuba., Cordero Navarro NY; Cuban Academy of Sciences, Cuba Street 460, Havana Vieja, Havana, Cuba., Sigler Villanueva AA; University Hospital 'Antonio Luaces Iraola', 'Máximo Gomez' Street, 257, Ciego de Avila, Cuba., Gámez Rodríguez O; University Hospital 'Juan Bruno Zayas', Carretera del Caney Street. Pastorita, Santiago de Cuba, Cuba., Sagaró Zambrano I; University Hospital 'Juan Bruno Zayas', Carretera del Caney Street. Pastorita, Santiago de Cuba, Cuba., Navas Napóles NY; University Hospital 'Manuel Ascunce', Carretera Central Oeste Street, Km 41/2, Camaguey, Cuba., García Zacarías J; University Hospital 'Camilo Cienfuegos', Bartolomé Massó Street 128, Sanctis Spiritus, Cuba., Serrano Barrera OR; University Hospital 'Ernesto Guevara', '2 de diciembre' Avenue 1, Las Tunas, Cuba., Ramírez Bautista MB; University Hospital 'Carlos Font Pupo', Trafico Street 1, Banes, Holguín, Cuba., Estupiñán Rodríguez A; Centre for the Research and Rehabilitation of Hereditary Ataxias, Libertad Street, 26, Holguín, Cuba., Guerra Rondón LA; Municipal Center of Medical Genetics, 1st Street, Cauto Cristo, Granma, Cuba., Vázquez-Mojena Y; Centre for the Research and Rehabilitation of Hereditary Ataxias, Libertad Street, 26, Holguín, Cuba., González-Zaldivar Y; Centre for the Research and Rehabilitation of Hereditary Ataxias, Libertad Street, 26, Holguín, Cuba., Almaguer Mederos LE; Centre for the Research and Rehabilitation of Hereditary Ataxias, Libertad Street, 26, Holguín, Cuba., Leyva-Mérida A; University Hospital 'Lucía Iñiguez', 'Celia Sanchez' Avenue 1, Holguín, Cuba. |
| مؤلفون مشاركون: | Cuban Hereditary Ataxias Network |
| المصدر: | Cerebellum (London, England) [Cerebellum] 2020 Apr; Vol. 19 (2), pp. 252-264. |
| نوع المنشور: | Journal Article |
| اللغة: | English |
| بيانات الدورية: | Publisher: Springer Country of Publication: United States NLM ID: 101089443 Publication Model: Print Cited Medium: Internet ISSN: 1473-4230 (Electronic) Linking ISSN: 14734222 NLM ISO Abbreviation: Cerebellum Subsets: MEDLINE |
| أسماء مطبوعة: | Publication: <2006->: New York : Springer Original Publication: London : Martin Dunitz, c2002- |
| مواضيع طبية MeSH: | Spinocerebellar Degenerations/*epidemiology, Cuba/epidemiology ; Humans ; Prevalence ; Spinocerebellar Degenerations/genetics |
| مستخلص: | 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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| فهرسة مساهمة: | Keywords: Autosomal dominant cerebellar ataxias; Autosomal recessive cerebellar ataxias; Epidemiological study; Hereditary ataxias; Prevalence; Spinocerebellar ataxias |
| تواريخ الأحداث: | Date Created: 20200126 Date Completed: 20201123 Latest Revision: 20210110 |
| رمز التحديث: | 20221213 |
| DOI: | 10.1007/s12311-020-01107-9 |
| PMID: | 31981095 |
| قاعدة البيانات: | MEDLINE |
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