Session Information
Date: Sunday, October 7, 2018
Session Title: Huntington's Disease
Session Time: 1:45pm-3:15pm
Location: Hall 3FG
Objective: To describe the prevalence, clinical and molecular characteristics of a series of LOHD patients in an Argentinean cohort.
Background: Late onset Huntington’s disease (LOHD) represents 4.4-11.5% of the HD population, presenting mild motor signs, slow progression, lower neuropsychiatric and cognitive impairment and age at onset ≥ 60 years. LOHD information in Argentina is scarce.
Methods: We conducted an observational study based on 2 institution’s registry review of a total of 94 individuals with clinical and molecular diagnosis of HD.
Results: Nine LOHD patients (6 men and 3 women), average age 75 ± 4.63 years (range 65-84 years), from 9 different families, forming 9,57% of the analyzed population. The initial symptoms were motor in all cases, inheritance was paternal in 3 cases, and in other 3 it could not be established. Interestingly, in 4 cases the CAG length was in the reduced penetrance range (36 – 39). The mean number of repetitions for the expanded allele was 40 (range 38 – 44), and 19,5 (range 16 -24) for the not expanded.
Conclusions: This population shows a frequency of LOHD similar to that reported in the literature. Phenotype expression was predominantly motor with a low number of CAG repetitions, including expanded allele on the reduced penetrance range. This observation is relevant, as it has been estimated that patients with 36-39 CAG repeats have a 40% chance to be asymptomatic at age 65 years and a 30% chance at age 75 years. Late onset HD represent a diagnostic and genetic challenge due to its slow progression, unawareness of manifestations among patients and in many cases, mild symptomatology that doesn’t lead to search for meal attention.
References: Adult-onset Huntington’s Disease that presented without chorea – Atsushi Iwata, Kenji Ishihara and Shoji Tsuji (2013). What do we know about late onset Huntington’s Disease? Sai S. Chagantia,b, Elizabeth A. McCuskera,b and Clement T. Loy (2017).
To cite this abstract in AMA style:
M. Cesarini, J. Etcheverry, E. Gatto, J. Ziliani, G. Da Prat, N. Gonzalez Rojas, V. Parisi, G. Persi. Late onset Huntington’s disease in an Argentinian cohort [abstract]. Mov Disord. 2018; 33 (suppl 2). https://www.mdsabstracts.org/abstract/late-onset-huntingtons-disease-in-an-argentinian-cohort/. Accessed November 21, 2024.« Back to 2018 International Congress
MDS Abstracts - https://www.mdsabstracts.org/abstract/late-onset-huntingtons-disease-in-an-argentinian-cohort/