TY - JOUR
T1 - Clinical Review of Juvenile Huntington's Disease
AU - Oosterloo, Mayke
AU - Touze, Alexiane
AU - Byrne, Lauren M
AU - Achenbach, Jannis
AU - Aksoy, Hande
AU - Coleman, Annabelle
AU - Lammert, Dawn
AU - Nance, Martha
AU - Nopoulos, Peggy
AU - Reilmann, Ralf
AU - Saft, Carsten
AU - Santini, Helen
AU - Squitieri, Ferdinando
AU - Tabrizi, Sarah
AU - Burgunder, Jean-Marc
AU - Quarrell, Oliver
AU - Pediatric Huntington Disease Working Group of the European Huntington Disease Network
PY - 2024/4/26
Y1 - 2024/4/26
N2 - 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.
AB - 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.
U2 - 10.3233/JHD-231523
DO - 10.3233/JHD-231523
M3 - (Systematic) Review article
SN - 1879-6397
JO - Journal of Huntington's disease
JF - Journal of Huntington's disease
IS - 1
ER -