Late-onset Huntington disease: An Italian cohort

• Published in: Journal of clinical neuroscience Vol. 86; pp. 58 - 63
• Main Authors: Volpi, Eleonora, Terenzi, Federica, Bagnoli, Silvia, Latorraca, Stefania, Nacmias, Benedetta, Sorbi, Sandro, Piacentini, Silvia, Ferrari, Camilla
• Format: Journal Article
• Language: English
• Published: Scotland Elsevier Ltd 01.04.2021
• Subjects: Age of onset; CAG 1; Huntington disease; Late-onset Huntington’s disease; Non-pathological allele; Late-onset Huntington’s disease; Age of onset; CAG 1; Huntington disease; Non-pathological allele
• ISSN: 0967-5868; 1532-2653; 1532-2653
• DOI: 10.1016/j.jocn.2020.12.025

•In this Italian cohocrt, LoHD patients are 25.2% of total cases.•LoHD and CoHD patients are comparable in terms of clinical presentation and disease progression.•The Allele 1 resulted longer among LoHD, suggesting a possible protective role on the disease onset. 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.