Oosterloo, Mayke;
Touze, Alexiane;
Byrne, Lauren M;
Achenbach, Jannis;
Aksoy, Hande;
Coleman, Annabelle;
Lammert, Dawn;
... Pediatric Huntington Disease Working Group of the European Hunti; + view all
(2024)
Clinical Review of Juvenile Huntington’s Disease.
Journal of Huntington's Disease
10.3233/JHD-231523.
(In press).
Preview |
PDF
Clinical Review of Juvenile Huntington's Disease.pdf - Published Version Download (100kB) | Preview |
Abstract
Juvenile Huntington's disease (JHD) is rare. In the first decade of life speech difficulties, rigidity, and dystonia are common clinical motor symptoms, whereas onset in the second decade motor symptoms may sometimes resemble adult-onset Huntington's disease (AOHD). Cognitive decline is mostly detected by declining school performances. Behavioral symptoms in general do not differ from AOHD but may be confused with autism spectrum disorder or attention deficit hyperactivity disorder and lead to misdiagnosis and/or diagnostic delay. JHD specific features are epilepsy, ataxia, spasticity, pain, itching, and possibly liver steatosis. Disease progression of JHD is faster compared to AOHD and the disease duration is shorter, particularly in case of higher CAG repeat lengths. The diagnosis is based on clinical judgement in combination with a positive family history and/or DNA analysis after careful consideration. Repeat length in JHD is usually > 55 and caused by anticipation, usually via paternal transmission. There are no pharmacological and multidisciplinary guidelines for JHD treatment. Future perspectives for earlier diagnosis are better diagnostic markers such as qualitative MRI and neurofilament light in serum.
| Type: | Article |
|---|---|
| Title: | Clinical Review of Juvenile Huntington’s Disease |
| Location: | Netherlands |
| Open access status: | An open access version is available from UCL Discovery |
| DOI: | 10.3233/JHD-231523 |
| Publisher version: | http://dx.doi.org/10.3233/jhd-231523 |
| Language: | English |
| Additional information: | © 2024 – The authors. Published by IOS Press. This is an Open Access article distributed under the terms of the Creative Commons Attribution-NonCommercial License (CC BY-NC 4.0). |
| Keywords: | Pediatric Huntington Disease Working Group of the European Huntington Disease Network |
| UCL classification: | UCL UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology > Neurodegenerative Diseases |
| URI: | https://discovery-pp.ucl.ac.uk/id/eprint/10191578 |
Archive Staff Only
 |
View Item |
