Genotype-phenotype characterisation of long survivors with motor neuron disease in Scotland.

ABSTRACT:

Background

We investigated the phenotypes and genotypes of a cohort of 'long-surviving' individuals with motor neuron disease (MND) to identify potential targets for prognostication.

Methods

Patients were recruited via the Clinical Audit Research and Evaluation for MND (CARE-MND) platform, which hosts the Scottish MND Register. Long survival was defined as > 8 years from diagnosis. 11 phenotypic variables were analysed. Whole genome sequencing (WGS) was performed and variants within 49 MND-associated genes examined. Each individual was screened for C9orf72 repeat expansions. Data from ancestry-matched Scottish populations (the Lothian Birth Cohorts) were used as controls.

Results

58 long survivors were identified. Median survival from diagnosis was 15.5 years. Long su

SUBMITTER: Leighton DJ 

PROVIDER: S-EPMC9971124 | biostudies-literature | 2023 Mar

REPOSITORIES: biostudies-literature