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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.

Objective The protocol for genetic test in at-risk individuals for Huntington Disease provides a neurological examination and a psychiatric evaluation before to begin the psychological counseling, that provides to engage the client in at least two or more psychological session aimed to support the decision-making process. The present study investigated the at-risk subjects’ decision to engage psychological counselling and to carry out genetic test. Materials The collected data were obtained through the recruitment of people with HD and their families within the European Huntington’s Disease Network (EHDN). Using the EHDN Registry, data on clinical signs and symptoms of HD are collected together with the family history of the disease and the data obtained by neurocognitive tests and self-report questionnaires. Methods One hundred and three individuals at risk for Huntington Disease have been included in the study, obtained from clinical data collected from 2007 and 2017 at the HD Center in Careggi Teaching Hospital. Data were manually retrieved from clinical records and included in a database for analyses. Results Forty-four (42.7%) subjects, out of 103 at-risk individuals, decided to start the protocol and engaged on psychological counselling about decision making for genetic test. Thirty-one (70.4%) subjects, out of 44 subjects who undertook the protocol, decided to carry out genetic test,while thirteen (30.6%) subjects decided to temporarily stop the psychological counselling. Within our sample, 18 females (58%) have undergone genetic test, among them 13 (72,2%) were in reproductive period (average age of 29,4 years). Discussion The study examined changes in decision-making for and against the predictive genetic test for Huntington’s disease during psychological counselling. Our data highlight that a high proportion of subjects changed the initial decision of having the genetic test after psychological counselling, preferring uncertainty to the chance of a negative result.