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Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disease characterised by progressive paralysis, leading to death from respiratory failure within 3–7 years. Approximately 5% of the cases are familial in nature, mostly inherited in an autosomal dominant mode. A relatively high rate of concurrence of ALS and multiple sclerosis (MS), a progressive inflammatory disorder of the central nervous system, has recently been reported.1 Interestingly, 80% of these ALS–MS cases were found to carry hexanucleotide repeat expansions in C9ORF72, which is a major ALS gene (found in 37% of familial ALS patients and 6.1% of sporadic ALS patients in the Netherlands2). Repeat expansions in C9ORF72 are also a major cause of frontotemporal dementia and have also been implicated in Alzheimer's disease, Parkinsonism, ataxia and psychosis. It is therefore considered to be a pleiotropic gene and could perhaps also play a role in MS pathogenesis.
The coincidence of ALS and MS is not undisputed. The available studies are mostly case reports or case series and are subject to referral and publication bias. A population based study approach is better to avoid this bias and to determine the relationship between ALS and MS. In a large prospective, population based ALS study in the Netherlands we identified all patients with ALS and MS and subsequently screened them for repeat expansions in the C9ORF72 gene.
Patients were identified from 1 January 2006 to 1 September 2011 in …
Funding This work was supported by the Prinses Beatrix Fonds (PB 0703) (Prinses Beatrix Fonds and Kersten Foundation, Postbus 85810, 2508 CM Den Haag, The Netherlands) and The Netherlands ALS Foundation (The Netherlands ALS Foundation, Zekeringstraat 42, 1014 BT Amsterdam, The Netherlands). The research leading to these results has received funding from the European Community's Health Seventh Framework Programme (FP7/2007–2013) (259867) (European Commission, DG Research—Unit F06, CDMA 02/069, B-1049 Brussels, Belgium).
Contributors PTCvD, AG, WvR, JHV, MAvE and LHvdB were all involved in the conception, design and acquisition of data. Analysis was performed by PTCvD, AG and WvR. PTCvD and AG wrote the first draft that was revised and approved by JHV, MAvE and LHvdB.
Competing interests LHvdB received travel grants and consultancy fees from Baxter, and serves on the advisory board for Biogen, Cytokinetics. JHV received travel grants from Baxter. The other authors report no competing financial interests.
Patient consent Obtained.
Ethics approval Medical Research Ethics Committee University Medical Center Utrecht.
Provenance and peer review Not commissioned; externally peer reviewed.