{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Senderek J"],"funding":["European Research Council","Medical Research Council","NHGRI NIH HHS","NINDS NIH HHS","Wellcome Trust"],"pagination":["e3163-e3179"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC7836667"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["95(24)"],"pubmed_abstract":["<h4>Objective</h4>To test the hypothesis that monogenic neuropathies such as Charcot-Marie-Tooth disease (CMT) contribute to frequent but often unexplained neuropathies in the elderly, we performed genetic analysis of 230 patients with unexplained axonal neuropathies and disease onset ≥35 years.<h4>Methods</h4>We recruited patients, collected clinical data, and conducted whole-exome sequencing (WES; n = 126) and <i>MME</i> single-gene sequencing (n = 104). We further queried WES repositories for <i>MME</i> variants and measured blood levels of the <i>MME</i>-encoded protein neprilysin.<h4>Results</h4>In the WES cohort, the overall detection rate for assumed disease-causing variants in genes for CMT or other conditions associated with neuropathies was 18.3% (familial cases 26.4%, apparently"],"journal":["Neurology"],"pubmed_title":["The genetic landscape of axonal neuropathies in the middle-aged and elderly: Focus on <i>MME</i>."],"pmcid":["PMC7836667"],"funding_grant_id":["MR/N027302/2","U54 NS065712","MR/N027302/1","109915/A/15/Z","R01 NS075764","U01 HG010218","309548","MR/N010035/1","MR/N025431/2","G1000848","MR/N025431/1","U01 HG007708"],"pubmed_authors":["Weinmann D","Abreu L","Laing NG","Schirmacher A","Rudnik-Schoneborn S","Synofzik M","Nicholson G","Windhager R","Auer-Grumbach M","Kochanski A","Lassuthova P","Ellis M","Strom TM","Marques W","De Jonghe P","Ludolph A","Schlotter-Weigel B","Lamont PJ","Iglseder S","Wagner J","Weishaupt J","Young P","Kennerson M","Fischer C","Walk D","Kinslechner K","Brenner D","Schoels L","Zuchner S","Dalton J","Herrmann DN","Braathen GJ","Hoyer H","Rebelo A","Kohler JN","Dankwa L","Petri S","Schule R","Wiessner M","Wolfgang N L","Kurth I","Drager B","Kabzinska D","Wanschitz J","Francou B","Baets J","Seeman P","Senderek J","Ravenscroft G","Deconinck T","Horvath R","Stojkovic T","Eggermann K","Beetz C","Ricci G","Ong R","Toegel S"],"additional_accession":[]},"is_claimable":false,"name":"The genetic landscape of axonal neuropathies in the middle-aged and elderly: Focus on <i>MME</i>.","description":"<h4>Objective</h4>To test the hypothesis that monogenic neuropathies such as Charcot-Marie-Tooth disease (CMT) contribute to frequent but often unexplained neuropathies in the elderly, we performed genetic analysis of 230 patients with unexplained axonal neuropathies and disease onset ≥35 years.<h4>Methods</h4>We recruited patients, collected clinical data, and conducted whole-exome sequencing (WES; n = 126) and <i>MME</i> single-gene sequencing (n = 104). We further queried WES repositories for <i>MME</i> variants and measured blood levels of the <i>MME</i>-encoded protein neprilysin.<h4>Results</h4>In the WES cohort, the overall detection rate for assumed disease-causing variants in genes for CMT or other conditions associated with neuropathies was 18.3% (familial cases 26.4%, apparently","dates":{"release":"2020-01-01T00:00:00Z","publication":"2020 Dec","modification":"2025-04-26T13:47:09.875Z","creation":"2022-02-11T14:05:28.723Z"},"accession":"S-EPMC7836667","cross_references":{"pubmed":["33144514"],"doi":["10.1212/wnl.0000000000011132","10.1212/WNL.0000000000011132"]}}