2 documents found, page 1 of 1
Somatic CAG repeat expansion in blood associates with biomarkers of neurodegene...
Scahill, Rachael I.; Farag, Mena; Murphy, Michael J.; Hobbs, Nicola Z.; Leocadi, Michela; Langley, Christelle; Knights, Harry; Ciosi, Marc; Fayer, KateHuntington's disease (HD) is an autosomal dominant neurodegenerative disease with the age at which characteristic symptoms manifest strongly influenced by inherited HTT CAG length. Somatic CAG expansion occurs throughout life and understanding the impact of somatic expansion on neurodegeneration is key to developing therapeutic targets. In 57 HD gene expanded (HDGE) individuals, ~23 years before their predicted...
Modeling disease progression and placebo response in huntington disease: insigh...
Boareto, Marcelo; Yamamoto, Yumi; Long, Jeffrey D.; Sampaio, Cristina; McColgan, Peter; Diack, Cheikh; Sanwald Ducray, PatriciaBackground and objectives: Huntington disease is a rare neurodegenerative disorder with no disease-modifying therapies. This study aimed to quantify longitudinal changes in Unified Huntington's Disease Rating Scale (UHDRS) scores and evaluate their susceptibility to placebo response, enhancing our understanding of disease progression and ability to optimize future trials. Methods: We used data from the Enroll-H...