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Large normal alleles and SCA2 prevalence: lessons from a nationwide study and analysis of the literature
Author(s) -
LaffitaMesa J.M.,
AlmaguerMederos L.E.,
Kourí V.,
Bauer P.O.,
VázquezMojena Y.,
Cruz Mariño T.,
VelázquezPérez L.
Publication year - 2014
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/cge.12221
Subject(s) - allele , genetics , medicine , biology , gene
To the Editor : The relationship between high frequency of large normal alleles (LNA) and high prevalence of autosomal dominant cerebellar ataxias (ADCAs) is not completely understood. Inconsistent reports regarding this relationship have been published, some of them postulating strong correlation between LNA and expanded alleles (EA) of the dominant spinocerebellar ataxias (SCAs) (1). Here, we provide epidemiological and genetic data supporting the hypothesis of large normals alleles (LNA) being a reservoir of EA in SCA2(ATXN2). We also discuss the reasons of conflicting data in the literature. We developed nationwide genetic ataxia screening (2), and was found that the highest prevalence of