35 CAG repeats in the HTT gene and clinical features of Huntington’s disease in two sisters
Journal Title: Postępy Nauk Medycznych - Year 2012, Vol 25, Issue 1
Abstract
Huntington’s disease (HD) is a genetic disorder resulting from CAG trinucleotide repeats expansion in the HTT gene. HD main symptoms comprise: chorea, neurocognitive deficits and psychiatric disturbances. Up till now the lowest number of 36 CAG repeats has been reported to be associated with unequivocal HD phenotype. There are three categories of HTT alleles distinguished: normal range with fewer than 26 repeats, intermediate alleles (27-35 CAG called also “mutable alleles” prone to expansion during transmission to the following generation and pathogenic range from ≥ 36 repeats. Within alleles causing HD further classification is recognized: incomplete penetrance alleles (36-39 repeats) and full penetrance alleles with ≥ 40 CAG triplets.Here we report two sisters aged 64 and 60 years probably affected with HD, but with only 35 repeats in HTT identified in both of them.
Authors and Affiliations
Marta Jethon, Elżbieta Zdzienicka, Urszula Fiszer, Wioletta Krysa
Keywords
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