A systematic review of the intergenerational aspects and the diverse genetic profiles of Huntington's disease.
Genet Mol Res
; 12(2): 1974-81, 2013 Jun 13.
Article
in En
| MEDLINE
| ID: mdl-23913380
ABSTRACT
Huntington's disease (HD) is a rare progressive and fatal neurogenetic degenerative disease, characterized by movement and personality disorders and by progressive dementia. Its prevalence varies by ethnic origin and different genetic profiles predisposing individuals to HD in each population. The prevalence of HD is 5-10 per 100,000 individuals in Caucasian populations of North America and Western Europe. It is an autosomal dominant disease associated with the expansion of CAG-type repetitive DNA sequences in the HTT gene. This gene, located on the short arm of chromosome 4, encodes the protein huntingtin. In this study, we reviewed 17 articles about HD that report data from 2400 affected individuals from various countries around the world, including Venezuela, China, Croatia, Turkey, Germany, Italy, Brazil, Spain, Taiwan, India, the Netherlands, Russia, and the USA, with a focus on genetic profiles and intergenerational expansions or contractions of expanded alleles responsible for causing HD. We discuss the genetic characteristics of HD in different populations and any atypical cases reported in these studies.
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Huntington Disease
/
Nerve Tissue Proteins
Type of study:
Risk_factors_studies
/
Systematic_reviews
Limits:
Humans
Country/Region as subject:
Asia
/
Europa
Language:
En
Journal:
Genet Mol Res
Journal subject:
BIOLOGIA MOLECULAR
/
GENETICA
Year:
2013
Document type:
Article
Affiliation country:
Brazil