Late-onset Huntington disease: An Italian cohort.

Autor: Volpi E; Department of Neuroscience, Psychology, Drug Research and Child Health (NEUROFARBA), University of Florence, Florence, Italy. Electronic address: eleonora.volpi@stud.unifi.it., Terenzi F; Department of Neuroscience, Psychology, Drug Research and Child Health (NEUROFARBA), University of Florence, Florence, Italy., Bagnoli S; Department of Neuroscience, Psychology, Drug Research and Child Health (NEUROFARBA), University of Florence, Florence, Italy., Latorraca S; Neurology Unit, Careggi University Hospital, Florence, Italy., Nacmias B; Department of Neuroscience, Psychology, Drug Research and Child Health (NEUROFARBA), University of Florence, Florence, Italy; IRCCS Fondazione Don Carlo Gnocchi, Florence, Italy., Sorbi S; Department of Neuroscience, Psychology, Drug Research and Child Health (NEUROFARBA), University of Florence, Florence, Italy; IRCCS Fondazione Don Carlo Gnocchi, Florence, Italy., Piacentini S; Department of Neuroscience, Psychology, Drug Research and Child Health (NEUROFARBA), University of Florence, Florence, Italy., Ferrari C; Department of Neuroscience, Psychology, Drug Research and Child Health (NEUROFARBA), University of Florence, Florence, Italy.
Jazyk: angličtina
Zdroj: Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia [J Clin Neurosci] 2021 Apr; Vol. 86, pp. 58-63. Date of Electronic Publication: 2021 Jan 27.
DOI: 10.1016/j.jocn.2020.12.025
Abstrakt: Huntington's disease (HD) is an autosomal dominant neurodegenerative disorder caused by a CAG expansion greater than 35 triplets in the IT-15 gene, with a clinical onset usually in the forties. Late-onset form of HD is defined as disease onset after the age of 59 years. The aim of the present study is to investigate the clinical-demographic features of Late-onset HD population (LoHD) in comparison to Classic-onset patients (CoHD). We analyzed a well-characterized Italian cohort of 127 HD patients, identifying 25.2% of LoHD cases. The mean age of onset was 65.9 and the mean length of pathological allele was 42.2. The 53.1% of LoHD patients had no family history of HD. No significant differences were observed in terms of gender, type of symptoms at disease onset, and clinical performance during the follow-up visits. The non-pathological allele resulted longer among LoHD patients. There is evidence that longer non-pathological allele is associated with a higher volume of basal ganglia, suggesting a possible protective role even in the onset of HD. In conclusion, LoHD patients in this Italian cohort were frequent, representing a quarter of total cases, and showed clinical features comparable to CoHD subjects. Due to the small sample size, further studies are needed to evaluate the influence of non-pathological alleles on disease onset.
Competing Interests: Declaration of Competing Interest The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper.
(Copyright © 2021 Elsevier Ltd. All rights reserved.)
Databáze: MEDLINE
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