Late-onset Huntington disease: An Italian cohort

Eleonora Volpi, Federica Terenzi, Silvia Bagnoli, Stefania Latorraca, Benedetta Nacmias, Sandro Sorbi, Silvia Piacentini, Camilla Ferrari

Research output: Contribution to journalArticlepeer-review

Abstract

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.

Original languageEnglish
Pages (from-to)58-63
Number of pages6
JournalJournal of Clinical Neuroscience
Volume86
DOIs
Publication statusPublished - Apr 2021

Keywords

  • Age of onset
  • CAG 1
  • Huntington disease
  • Late-onset Huntington's disease
  • Non-pathological allele

ASJC Scopus subject areas

  • Surgery
  • Neurology
  • Clinical Neurology
  • Physiology (medical)

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