Biological and clinical manifestations of juvenile Huntington’s disease: a retrospective analysis
The Lancet Neurology
Fecha de publicación: 1 october 2018
Autores: Caterina Fusilli, PhD., Simone Migliore, PhD., Tommaso Mazza, PhD., Federica Consoli, BSc., Alessandro De Luca, BSc., Gaetano Barbagallo, MD
Background: Huntington’s disease is a rare, neurodegenerative disease caused by an expanded CAG repeat mutation in the huntingtin gene. Compared with adult-onset Huntington’s disease, juvenile Huntington’s disease (onset ≤20 years) is even rarer and has not been studied extensively. We aimed to further characterise juvenile Huntington’s disease by examining the effect of CAG repeat size on disease presentation, progression, and survival.