{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Leighton DJ"],"funding":["Chief Scientist Office","Motor Neurone Disease Association","MND Scotland"],"pagination":["5256-5266"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC11319561"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["271(8)"],"pubmed_abstract":["<h4>Background</h4>Using the Clinical Audit Research and Evaluation of Motor Neuron Disease (CARE-MND) database and the Scottish Regenerative Neurology Tissue Bank, we aimed to outline the genetic epidemiology and phenotypes of an incident cohort of people with MND (pwMND) to gain a realistic impression of the genetic landscape and genotype-phenotype associations.<h4>Methods</h4>Phenotypic markers were identified from the CARE-MND platform. Sequence analysis of 48 genes was undertaken. Variants were classified using a structured evidence-based approach. Samples were also tested for C9orf72 hexanucleotide expansions using repeat-prime PCR methodology.<h4>Results</h4>339 pwMND donated a DNA sample: 44 (13.0%) fulfilled criteria for having a pathogenic variant/repeat expansion, 53.5% of those"],"journal":["Journal of neurology"],"pubmed_title":["Genotypes and phenotypes of motor neuron disease: an update of the genetic landscape in Scotland."],"pmcid":["PMC11319561"],"funding_grant_id":["CAF/MND/15/01"],"pubmed_authors":["MacDonald P","Davenport R","Gardiner L","Simpson D","Stephenson L","Gill J","Thompson D","Deary IJ","Webber C","Taylor A","Ansari M","Deary I","Dolezal O","Lothian Birth Cohorts Group, the CARE-MND Consortium","Beswick E","Swingler R","Murrie L","Newton J","Connor M","Craig G","Larraz J","Morrison I","Porteous M","Prendergast J","McAleer D","Gorrie GH","Johnson M","Bethell A","Storey D","Byrne S","Millar K","Lennox H","McEleney A","Leighton DJ","Wong M","Saravanan G","Chau I","Lassak K","Stott G","Perry D","Marshall L","Russ T","Cleary E","Thornton C","Hatrick J","Harris S","Duncan C","Flett M","Stewart S","Carod Artal J","Pal S","Chandran S"],"additional_accession":[]},"is_claimable":false,"name":"Genotypes and phenotypes of motor neuron disease: an update of the genetic landscape in Scotland.","description":"<h4>Background</h4>Using the Clinical Audit Research and Evaluation of Motor Neuron Disease (CARE-MND) database and the Scottish Regenerative Neurology Tissue Bank, we aimed to outline the genetic epidemiology and phenotypes of an incident cohort of people with MND (pwMND) to gain a realistic impression of the genetic landscape and genotype-phenotype associations.<h4>Methods</h4>Phenotypic markers were identified from the CARE-MND platform. Sequence analysis of 48 genes was undertaken. Variants were classified using a structured evidence-based approach. Samples were also tested for C9orf72 hexanucleotide expansions using repeat-prime PCR methodology.<h4>Results</h4>339 pwMND donated a DNA sample: 44 (13.0%) fulfilled criteria for having a pathogenic variant/repeat expansion, 53.5% of those","dates":{"release":"2024-01-01T00:00:00Z","publication":"2024 Aug","modification":"2025-04-26T01:12:52.186Z","creation":"2024-11-21T00:36:59.643Z"},"accession":"S-EPMC11319561","cross_references":{"pubmed":["38852112"],"doi":["10.1007/s00415-024-12450-w"]}}