eprintid: 10191578
rev_number: 7
eprint_status: archive
userid: 699
dir: disk0/10/19/15/78
datestamp: 2024-05-03 09:57:03
lastmod: 2024-05-03 09:57:03
status_changed: 2024-05-03 09:57:03
type: article
metadata_visibility: show
sword_depositor: 699
creators_name: Oosterloo, Mayke
creators_name: Touze, Alexiane
creators_name: Byrne, Lauren M
creators_name: Achenbach, Jannis
creators_name: Aksoy, Hande
creators_name: Coleman, Annabelle
creators_name: Lammert, Dawn
creators_name: Nance, Martha
creators_name: Nopoulos, Peggy
creators_name: Reilmann, Ralf
creators_name: Saft, Carsten
creators_name: Santini, Helen
creators_name: Squitieri, Ferdinando
creators_name: Tabrizi, Sarah
creators_name: Burgunder, Jean-Marc
creators_name: Quarrell, Oliver
creators_name: Pediatric Huntington Disease Working Group of the European Hunti, 
title: Clinical Review of Juvenile Huntington’s Disease
ispublished: inpress
divisions: UCL
divisions: B02
divisions: C07
divisions: D07
divisions: F86
keywords: Pediatric Huntington Disease Working Group of the European Huntington Disease Network
note: © 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).
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.
date: 2024-04-26
date_type: published
publisher: IOS Press
official_url: http://dx.doi.org/10.3233/jhd-231523
oa_status: green
full_text_type: pub
language: eng
primo: open
primo_central: open_green
verified: verified_manual
elements_id: 2271552
doi: 10.3233/JHD-231523
medium: Print-Electronic
pii: JHD231523
lyricists_name: Byrne, Lauren Mary
lyricists_id: LMBYR59
actors_name: Flynn, Bernadette
actors_id: BFFLY94
actors_role: owner
full_text_status: public
publication: Journal of Huntington's Disease
event_location: Netherlands
issn: 1879-6397
citation:        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 <#>        Oosterloo, Mayke;  Touze, Alexiane;  Byrne, Lauren M;  Achenbach, Jannis;  Aksoy, Hande;  Coleman, Annabelle;  Lammert, Dawn;  Nance, Martha;  Nopoulos, Peggy;  Reilmann, Ralf;  Saft, Carsten;  Santini, Helen;  Squitieri, Ferdinando;  Tabrizi, Sarah;  Burgunder, Jean-Marc;  Quarrell, Oliver;  Pediatric Huntington Disease Working Group of the European Hunti;   - view fewer <#>    (2024)    Clinical Review of Juvenile Huntington’s Disease.                   Journal of Huntington's Disease        10.3233/JHD-231523 <https://doi.org/10.3233/JHD-231523>.    (In press).    Green open access   
 
document_url: https://discovery.ucl.ac.uk/id/eprint/10191578/1/Clinical%20Review%20of%20Juvenile%20Huntington%27s%20Disease.pdf