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Low predisposition to instability of the Friedreich ataxia gene in Cuban population

Low predisposition to instability of the Friedreich ataxia gene in Cuban population Letter to the Editor Low predisposition to instability of the Friedreich ataxia gene in Cuban population To the Editor: Cuba is an archipelago in the Caribbean whose population consists of the creole descendants of Spaniards mixed with sub-Saharan Africans, the Chinese, European Jews and Amerindians to a lesser degree (1). It is also the country with the world’s highest prevalence of Spinocerebellar ataxia type 2 (SCA2). Recessive and sporadic ataxias, on the contrary, represent 9.16% and 2.39%, respectively among all types of ataxia (2). Worldwide, Friedreich ataxia (FRDA) is considered the most frequent form of inherited ataxia. We undertook as study to determine its prevalence in Cuba as well as to describe the characteristics of the FRDA gene in the normal population, looking for some clues about the probable origin of the disease. For these purposes, after informed consent was obtained, 87 patients affected by a recessive or sporadic ataxia, previously identified through a national survey (2), were evaluated. For clinical examination, internationally validated clinical scales, International cooperative ataxia rating scale (ICARS) and Scale for the Assessment and Rating of Ataxia (SARA) (3, 4), were used. Genomic DNA was obtained by extraction from leukocytes and PCR for FRDA http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Clinical Genetics Wiley

Low predisposition to instability of the Friedreich ataxia gene in Cuban population

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References (21)

Publisher
Wiley
Copyright
© 2010 John Wiley & Sons A/S
ISSN
0009-9163
eISSN
1399-0004
DOI
10.1111/j.1399-0004.2009.01361.x
pmid
20569261
Publisher site
See Article on Publisher Site

Abstract

Letter to the Editor Low predisposition to instability of the Friedreich ataxia gene in Cuban population To the Editor: Cuba is an archipelago in the Caribbean whose population consists of the creole descendants of Spaniards mixed with sub-Saharan Africans, the Chinese, European Jews and Amerindians to a lesser degree (1). It is also the country with the world’s highest prevalence of Spinocerebellar ataxia type 2 (SCA2). Recessive and sporadic ataxias, on the contrary, represent 9.16% and 2.39%, respectively among all types of ataxia (2). Worldwide, Friedreich ataxia (FRDA) is considered the most frequent form of inherited ataxia. We undertook as study to determine its prevalence in Cuba as well as to describe the characteristics of the FRDA gene in the normal population, looking for some clues about the probable origin of the disease. For these purposes, after informed consent was obtained, 87 patients affected by a recessive or sporadic ataxia, previously identified through a national survey (2), were evaluated. For clinical examination, internationally validated clinical scales, International cooperative ataxia rating scale (ICARS) and Scale for the Assessment and Rating of Ataxia (SARA) (3, 4), were used. Genomic DNA was obtained by extraction from leukocytes and PCR for FRDA

Journal

Clinical Genetics – Wiley

Published: Jun 1, 2010

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