{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Scahill RI"],"funding":["Medical Research Council","National Institute for Health Research (NIHR)","CHDI Foundation","Wellcome Trust"],"pagination":["807-818"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC11922752"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["31(3)"],"pubmed_abstract":["Huntington'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 clinical motor diagnosis, no significant decline in clinical, cognitive or neuropsychiatric function was observed over 4.5 years compared with 46 controls (false discovery rate (FDR) > 0.3). However, cerebrospinal fluid (CSF) markers showed very early signs of neurodegeneration in HDGE with elevated neurofilament light (NfL) protein, an indicator of neuroaxonal damage (FDR = 3.2 × 1"],"journal":["Nature medicine"],"pubmed_title":["Somatic CAG repeat expansion in blood associates with biomarkers of neurodegeneration in Huntington's disease decades before clinical motor diagnosis."],"pmcid":["PMC11922752"],"funding_grant_id":["NIHR203312","220258","MC_UU_00030/14","223082/Z/21/Z"],"pubmed_authors":["Langley C","Fayer K","Rees G","Zhang H","Sampaio C","Heslegrave A","Zetterberg H","Ponraj NKP","Wild EJ","Murphy MJ","Scahill RI","Langbehn DR","Hassan YR","Monckton DG","Knights H","Thackeray O","Farag M","Estevez-Fraga C","Malone IB","Robbins TW","Ronnholm J","Rowe JB","Tabrizi SJ","Ciosi M","Nakajima M","Parker CS","Hyare H","Weiner S","Leocadi M","Hobbs NZ","Long JD","Gobom J","Sahakian BJ"],"additional_accession":[]},"is_claimable":false,"name":"Somatic CAG repeat expansion in blood associates with biomarkers of neurodegeneration in Huntington's disease decades before clinical motor diagnosis.","description":"Huntington'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 clinical motor diagnosis, no significant decline in clinical, cognitive or neuropsychiatric function was observed over 4.5 years compared with 46 controls (false discovery rate (FDR) > 0.3). However, cerebrospinal fluid (CSF) markers showed very early signs of neurodegeneration in HDGE with elevated neurofilament light (NfL) protein, an indicator of neuroaxonal damage (FDR = 3.2 × 1","dates":{"release":"2025-01-01T00:00:00Z","publication":"2025 Mar","modification":"2026-06-01T14:39:10.132Z","creation":"2025-04-04T00:07:16.293Z"},"accession":"S-EPMC11922752","cross_references":{"pubmed":["39825149"],"doi":["10.1038/s41591-024-03424-6"]}}