Reduced penetrance of gene variants causing amyotrophic lateral sclerosis

Journal article

Amyotrophic Lateral Sclerosis (ALS) is a fatal neurodegenerative disease caused by the death of both upper and lower motor neuron populations, which are responsible for initiating and controlling movement. ALS is a complex and heterogeneous disease, with only 10% of cases arising from an inherited genetic mutation. Although over 40 genes have been linked to ALS pathology, the cause of disease is still unknown for the vast majority of patients, and treatment options remain limited. Mul...

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Authors: Douglas, AGL; Baralle, D

• Publication status: Published
• Peer review status: Peer reviewed
• Publisher: BMJ Publishing Group
• Journal: Journal of Medical Genetics
• Volume: 61
• Issue: 3
• Pages: 294-297
• Publication date: 2023-12-16
• Acceptance date: 2023-11-05
• DOI: 10.1136/jmg-2023-109580
• EISSN: 1468-6244
• ISSN: 0022-2593
• Language: English
• Keywords: Phenotype; Medicine; SOD1; Genetics; Population; Frontotemporal dementia; Dementia; Penetrance; Amyotrophic lateral sclerosis; Disease; C9orf72; Biology; TARDBP; Pathology; Gene