Clinical and genetic characteristics in patients with Huntington´s Disease from Argentina.

EMILIA M GATTO; VIRGINIA PARISI; GABRIEL PERSI; DANIELA PAOLA CONVERSO; JOSÉ LUIS ETCHEVERRY; VIVIANA VARELA; LILIANA ALBA; GUSTAVO FRECHTEL

PARKINSONISM & RELATED DISORDERS

ELSEVIER SCI LTD

Lugar: Amsterdam; Año: 2012 vol. 2 p. 166 - 169

1353-8020

Huntington´s Disease (HD) is a neurodegenerative disease, caused by the expa nsion of an unstab le (CAG)n in the HTT gene. There is scarce data about the disease in Argentina. Objective: To describe the demographic, clin ical and molecu lar data in patients with HD from Argentina. Patients and methods: 59 HD patients were recruited at our departme nt. Comp rehensive interviews, neurological examinati on and genetic analysis were performed in probands. Statistical analysis was conducted using G -Stat 2.0 and non-parametric tests (Wilcoxon). Results: 32 women and 27 men were diagnose d with a mean age of 45.7 16.2 years and a mean age at onset of 35.8 14.8 years. We found no gender prevalence and an inverse correlation between size of muta nt CAG repeat seque nce and age at onset,r ¼0.58, r 2 ¼ 33.6, Pearson´s correlation coeffi cient p ¼ 0.0 0 08 . Juvenile HD in this series of pati ents was hi gher t han previously reported ( 16.6% vs.