Genotypes and phenotypes of motor neuron disease: an update of the genetic landscape in Scotland.

ABSTRACT:

Background

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.

Methods

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.

Results

339 pwMND donated a DNA sample: 44 (13.0%) fulfilled criteria for having a pathogenic variant/repeat expansion, 53.5% of those

SUBMITTER: Leighton DJ 

PROVIDER: S-EPMC11319561 | biostudies-literature | 2024 Aug

REPOSITORIES: biostudies-literature