Mayke Oosterloo, Alexiane Touze, Lauren M Byrne, Jannis Achenbach, Hande Aksoy, Annabelle Coleman, Dawn Lammert, Martha Nance, Peggy Nopoulos, Ralf Reilmann, Carsten Saft, Helen Santini, Ferdinando Squitieri, Sarah Tabrizi, Jean-Marc Burgunder, Oliver Quarrell, Pediatric Huntington Disease Working Group of the European Huntington Disease Network
Author Information
Mayke Oosterloo: Department of Neurology, Maastricht University Medical Center, Maastricht, The Netherlands.
Alexiane Touze: Department of Neurodegenerative Disease, UCL Huntington's Disease Centre, UCL Queen Square Institute of Neurology, University College London, London, UK.
Lauren M Byrne: Department of Neurodegenerative Disease, UCL Huntington's Disease Centre, UCL Queen Square Institute of Neurology, University College London, London, UK.
Jannis Achenbach: Department of Neurology, Huntington Centre NRW, Ruhr-University Bochum, St. Josef-Hospital, Bochum, Germany.
Hande Aksoy: Faculty of Health, Medicine and Life Sciences, Maastricht University, Maastricht, The Netherlands.
Annabelle Coleman: Department of Neurodegenerative Disease, UCL Huntington's Disease Centre, UCL Queen Square Institute of Neurology, University College London, London, UK.
Dawn Lammert: Department of Neurology, Division of Child Neurology, Johns Hopkins University School of Medicine, Baltimore, MD, USA.
Martha Nance: Struthers Parkinson's Center, Minneapolis, MN, USA.
Peggy Nopoulos: Departments of Psychiatry, Pediatrics, & Neurology, University of Iowa Carver College of Medicine, Iowa City, IA, USA.
Ralf Reilmann: George-Huntington-Institute & Department of Radiology, University of Muenster, Muenster, Germany.
Carsten Saft: Department of Neurology, Huntington Centre NRW, Ruhr-University Bochum, St. Josef-Hospital, Bochum, Germany.
Helen Santini: Huntington's Disease Association, England and Wales.
Ferdinando Squitieri: Centre for Rare Neurological Diseases (CMRN), Italian League for Research on Huntington (LIRH) Foundation, Rome, Italy.
Sarah Tabrizi: Department of Neurodegenerative Disease, UCL Huntington's Disease Centre, UCL Queen Square Institute of Neurology, University College London, London, UK.
Jean-Marc Burgunder: Neurozentrum Siloah and Department of Neurology, Swiss HD Center, University of Bern, Bern, Switzerland.
Oliver Quarrell: Department of Clinical Genetics, Sheffield Children's Hospital, Sheffield, UK.
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.
