lunes, 2 de marzo de 2015

Epidemiology of huntington disease: first post-htt gene analysis of... - PubMed - NCBI

Epidemiology of huntington disease: first post-htt gene analysis of... - PubMed - NCBI



Clin Genet. 2015 Feb 18. doi: 10.1111/cge.12574. [Epub ahead of print]

Epidemiology of huntington disease: first post-htt gene analysis of prevalence in italy.

Abstract

Huntington disease (HD) prevalence shows geographic variability and has been recently updated by taking in account the mutation diagnostic test. In Italy, the last epidemiological estimation was reported well before the HTT gene discovery and the availability of the corresponding genetic test. It reported a prevalence of affected subjects ranging between 2.3 to 4.8/100,000 in some restricted areas of Northern Italy. We have performed a service-based epidemiological analysis in a very restricted geographic area named Molise, where our institutions currently operate and represent the only point of reference for rare neuropsychiatric diseases. The estimated prevalence found was of 10.85/100,000 (95% CI: 7.20-14.50), remarkably higher than that previously described before the gene test analysis was available, and expected to increase of an additional 17% by 2030, due to Italian population aging. According to our analysis, we estimate that about 6,000 subjects are currently affected by HD in Italy, and that this number will further increase in the next decades due to population aging, variable phenotype penetrance and improved life expectancy.
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KEYWORDS:

Huntington disease; Italy; epidemiology; prevalence

PMID:
 
25689972
 
[PubMed - as supplied by publisher]

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