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Clinical Review of Juvenile Huntington's Disease
Journal article   Open access   Peer reviewed

Clinical Review of Juvenile Huntington's Disease

Mayke Oosterloo, Alexiane Touze, Lauren M Byrne, Jannis Achenbach, Hande Aksoy, Annabelle Coleman, Dawn Lammert, Martha Nance, Peggy Nopoulos, Ralf Reilmann, …
Journal of Huntington's disease, Vol.13(2), pp.149-161
07/2024
DOI: 10.3233/JHD-231523
PMCID: PMC11307030
PMID: 38669553
url
https://doi.org/10.3233/JHD-231523View
Published (Version of record) Open Access

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.
 Juvenile Huntington's disease pediatric Huntington's disease early-onset Huntington's disease juvenile-onset Huntington's disease pediatric-onset Huntington's disease

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