Mayke Oosterloo1, Emilia K Bijlsma2, Sander Mj van Kuijk3, Floor Minkels4, Christine Em de Die-Smulders5. 1. Department of Neurology, Maastricht University Medical Center, Maastricht, the Netherlands; Department of Neurology, Leiden University Medical Center, Leiden, the Netherlands. Electronic address: mayke.oosterloo@mumc.nl. 2. Department of Clinical Genetics, Leiden University Medical Center, Leiden, the Netherlands. 3. Department of Clinical Epidemiology and Medical Technology Assessment, Maastricht University Medical Center, Maastricht, the Netherlands. 4. Department of Neurology, Maastricht University Medical Center, Maastricht, the Netherlands. 5. Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, the Netherlands; GROW Research Institute for Oncology and Developmental Biology, Maastricht University, Maastricht, the Netherlands.
Abstract
BACKGROUND: The frequency of late-onset Huntington's disease (>59 years) is assumed to be low and the clinical course milder. However, previous literature on late-onset disease is scarce and inconclusive. OBJECTIVE: Our aim is to study clinical characteristics of late-onset compared to common-onset HD patients in a large cohort of HD patients from the Registry database. METHODS: Participants with late- and common-onset (30-50 years)were compared for first clinical symptoms, disease progression, CAG repeat size and family history. Participants with a missing CAG repeat size, a repeat size of ≤35 or a UHDRS motor score of ≤5 were excluded. RESULTS: Of 6007 eligible participants, 687 had late-onset (11.4%) and 3216 (53.5%) common-onset HD. Late-onset (n = 577) had significantly more gait and balance problems as first symptom compared to common-onset (n = 2408) (P < .001). Overall motor and cognitive performance (P < .001) were worse, however only disease motor progression was slower (coefficient, -0.58; SE 0.16; P < .001) compared to the common-onset group. Repeat size was significantly lower in the late-onset (n = 40.8; SD 1.6) compared to common-onset (n = 44.4; SD 2.8) (P < .001). Fewer late-onset patients (n = 451) had a positive family history compared to common-onset (n = 2940) (P < .001). CONCLUSIONS: Late-onset patients present more frequently with gait and balance problems as first symptom, and disease progression is not milder compared to common-onset HD patients apart from motor progression. The family history is likely to be negative, which might make diagnosing HD more difficult in this population. However, the balance and gait problems might be helpful in diagnosing HD in elderly patients.
BACKGROUND: The frequency of late-onset Huntington's disease (>59 years) is assumed to be low and the clinical course milder. However, previous literature on late-onset disease is scarce and inconclusive. OBJECTIVE: Our aim is to study clinical characteristics of late-onset compared to common-onset HD patients in a large cohort of HD patients from the Registry database. METHODS: Participants with late- and common-onset (30-50 years)were compared for first clinical symptoms, disease progression, CAG repeat size and family history. Participants with a missing CAG repeat size, a repeat size of ≤35 or a UHDRS motor score of ≤5 were excluded. RESULTS: Of 6007 eligible participants, 687 had late-onset (11.4%) and 3216 (53.5%) common-onset HD. Late-onset (n = 577) had significantly more gait and balance problems as first symptom compared to common-onset (n = 2408) (P < .001). Overall motor and cognitive performance (P < .001) were worse, however only disease motor progression was slower (coefficient, -0.58; SE 0.16; P < .001) compared to the common-onset group. Repeat size was significantly lower in the late-onset (n = 40.8; SD 1.6) compared to common-onset (n = 44.4; SD 2.8) (P < .001). Fewer late-onset patients (n = 451) had a positive family history compared to common-onset (n = 2940) (P < .001). CONCLUSIONS: Late-onset patients present more frequently with gait and balance problems as first symptom, and disease progression is not milder compared to common-onset HD patients apart from motor progression. The family history is likely to be negative, which might make diagnosing HD more difficult in this population. However, the balance and gait problems might be helpful in diagnosing HD in elderly patients.
Authors: Branduff McAllister; James F Gusella; G Bernhard Landwehrmeyer; Jong-Min Lee; Marcy E MacDonald; Michael Orth; Anne E Rosser; Nigel M Williams; Peter Holmans; Lesley Jones; Thomas H Massey Journal: Neurology Date: 2021-03-25 Impact factor: 11.800
Authors: Katalin Despotov; Dénes Zádori; Gábor Veres; Katalin Jakab; Gabriella Gárdián; Eszter Tóth; Tamás Zsigmond Kincses; László Vécsei; András Ajtay; Dániel Bereczki; Péter Klivényi Journal: BMC Neurol Date: 2021-02-18 Impact factor: 2.474
Authors: Cathal Seoighe; Adrian P Bracken; Patrick Buckley; Peter Doran; Robert Green; Sandra Healy; David Kavanagh; Elaine Kenny; Mark Lawler; Maeve Lowery; Derek Morris; Darrin Morrissey; James J O'Byrne; Denis Shields; Owen Smith; Charles A Steward; Brian Sweeney; Walter Kolch Journal: HRB Open Res Date: 2020-12-04
Authors: Martina Petracca; Sonia Di Tella; Marcella Solito; Paola Zinzi; Maria Rita Lo Monaco; Giulia Di Lazzaro; Paolo Calabresi; Maria Caterina Silveri; Anna Rita Bentivoglio Journal: Eur J Neurol Date: 2022-04-17 Impact factor: 6.288