Publications by authors named "Javier Carod Artal"
Article Synopsis
- - The study analyzed data from the CARE-MND database and the Scottish Regenerative Neurology Tissue Bank to explore the genetic factors and traits associated with motor neuron disease (MND) in a cohort of affected individuals.
- - Among 339 participants, 13% had identifiable genetic variants linked to MND, with 8.8% having a known C9orf72 repeat expansion, which was linked to poorer cognitive scores.
- - The findings highlight the importance of early genetic testing for cognitive impairment in MND patients, particularly in Scotland, where certain genetic variants are more prevalent, potentially influencing future treatment strategies.
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.