Abstract
Background: Juvenile-onset Huntington's Disease (JoHD) or Huntington's disease (HD) with age of onset ≤20 years, is a rare clinical entity that often differs phenotypically from adult HD and represents only 1–15% of total HD cases. Objective: To characterize the genetic and clinical characteristics of 32 JoHD patients seen in a Peruvian Neurogenetics clinic from 2000–2018. Methods: This study is a retrospective clinical and genetic review. The clinical database in Lima, Peru was searched for HD patients seen in clinic between 2000 and 2018. Inclusion criteria were: (1) genetically confirmed disease; and (2) HD age of onset ≤20 years, according to the documented medical history. Results: Among 475 patients with genetically confirmed HD in the database, 32 patients (6.7%) had symptom onset at ≤20 years. Among JoHD patients with a known transmitting parent (30 of 32), paternal transmission accounted for 77% of cases. Anticipation was higher with paternal transmission compared to maternal transmission (27.5 ± 11.5 vs. 11.3 ± 7.1 years). Overall expanded CAG repeat length ranged from 44 to 110, with a mean length of 65.6 ± 15.4, and 14 (44%) cases had repeat length under 60. Of the 32 patients included in the study, 25 had detailed clinical symptomatology available, and many patients had unique clinical features such as prominent sleep disturbance (60% of patients), or parkinsonism (73%). Conclusions: This large case series of JoHD patients characterizes the Peruvian JoHD population, reports on unique familial relationships in JoHD, and highlights the varied symptomatic presentation of this rare disease.
| Original language | English |
|---|---|
| Journal | Movement Disorders Clinical Practice |
| DOIs | |
| State | Accepted/In press - 2022 |
| Externally published | Yes |
Bibliographical note
Funding Information:This research did not receive any specific grant from funding agencies in the public, commercial, or not‐for‐profit sectors. However, this research work was partially supported by the Peruvian Institution PROCIENCIA‐CONCYTEC within the framework of the convention of Research Projects in Health EU‐LAC (Contract No. 098‐2017‐FONDECYT). Research training for AV during the execution of this project was supported by NIH Research Training Grant #R25 TW009345 funded by the Fogarty International Center, the NIH Office of the Director, Office of AIDS Research, the NIH Office of the Director Office of Research on Women's Health, the National Heart, Lung, and Blood Institute, the National Institute of Mental Health and the National Institute of General Medical Sciences. We have no conflicts of interest to report. Funding Sources and Conflicts of Interest:
Funding Information:
Anastasia Vishnevetsky: The Contributor has received financial and material support for this research and work regardless of date from the following sources: Research training support provided by NIH Research Training Grant #R25 TW009345 funded by the Fogarty International Center, the NIH Office of the Director, Office of AIDS Research, the NIH Office of the Director Office of Research on Women's Health, the National Heart, Lung, and Blood Institute, the National Institute of Mental Health and the National Institute of General Medical Sciences. In the past year from the date of submission, the Contributor has also received the following support unrelated to this research: Employment at the Brigham Mass General Neuro‐immunology Fellowship. Mario Cornejo‐Olivas: In the past year from the date of submission, the Contributor has also received the following support unrelated to this research: Research grant from FONDECYT‐CONCYTEC. Elison Sarapura‐Castro: In the past year from the date of submission, the Contributor has also received the following support unrelated to this research: Research grant from FONDECYT‐CONCYTEC. Miguel Inca‐Martinez: In the past year from the date of submission, the Contributor has also received the following support unrelated to this research: Fellow at the Latin American Training Program (LATP) 2018, Society for Neuroscience‐IBRO. Danielle Rabinowitz: In the past year from the date of submission, the Contributor has also received the following support unrelated to this research: Employment at the Boston Children's Hospital residency program. Karina Milla‐Neyra: In the past year from the date of submission, the Contributor has also received the following support unrelated to this research: Research grant from FONDECYT‐CONCYTEC. Pilar Mazzetti: In the past year from the date of submission, the Contributor has also received the following support unrelated to this research: Research grant from FONDECYT‐CONCYTEC. Honoraria from Grünenthal Peruana S.A. Thomas Bird: In the past year from the date of submission, the Contributor has also received the following support unrelated to this research: Licensing fees from Athena Diagnostic Inc. Financial Disclosures for the Previous 12 Months:
Publisher Copyright:
© 2022 International Parkinson and Movement Disorder Society.
Keywords
- ataxia
- chorea
- juvenile Huntington's disease
- juvenile-onset Huntington's disease
- Peru