biostudies-literatureLeighton DJChief Scientist OfficeMotor Neurone Disease AssociationMND Scotland5256-5266https://www.ebi.ac.uk/biostudies/studies/S-EPMC11319561biostudies-literatureUnknown271(8)<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 thoseJournal of neurologyGenotypes and phenotypes of motor neuron disease: an update of the genetic landscape in Scotland.PMC11319561CAF/MND/15/01MacDonald PDavenport RGardiner LSimpson DStephenson LGill JThompson DDeary IJWebber CTaylor AAnsari MDeary IDolezal OLothian Birth Cohorts Group, the CARE-MND ConsortiumBeswick ESwingler RMurrie LNewton JConnor MCraig GLarraz JMorrison IPorteous MPrendergast JMcAleer DGorrie GHJohnson MBethell AStorey DByrne SMillar KLennox HMcEleney ALeighton DJWong MSaravanan GChau ILassak KStott GPerry DMarshall LRuss TCleary EThornton CHatrick JHarris SDuncan CFlett MStewart SCarod Artal JPal SChandran SfalseGenotypes and phenotypes of motor neuron disease: an update of the genetic landscape in Scotland.<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 those2024-01-01T00:00:00Z2024 Aug2025-04-26T01:12:52.186Z2024-11-21T00:36:59.643ZS-EPMC113195613885211210.1007/s00415-024-12450-w