Genetic Overlap between Apparently Sporadic Motor Neuron Diseases

Marka van Blitterswijk, Lotte Vlam, Michael A. van Es, W. Ludo van der Pol, Eric A.M. Hennekam, Dennis Dooijes, Helenius J. Schelhaas, Anneke J. van der Kooi, Marianne de Visser, Jan H. Veldink, Leonard H. van den Berg

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48 Scopus citations


Progressive muscular atrophy (PMA) and amyotrophic lateral sclerosis (ALS) are devastating motor neuron diseases (MNDs), which result in muscle weakness and/or spasticity. We compared mutation frequencies in genes known to be associated with MNDs between patients with apparently sporadic PMA and ALS. A total of 261 patients with adult-onset sporadic PMA, patients with sporadic ALS, and control subjects of Dutch descent were obtained at national referral centers for neuromuscular diseases in The Netherlands. Sanger sequencing was used to screen these subjects for mutations in the coding regions of superoxide dismutase-1 (SOD1), angiogenin (ANG), fused in sarcoma/translated in liposarcoma (FUS/TLS), TAR DNA-binding protein 43 (TARDBP), and multivesicular body protein 2B (CHMP2B). In our cohort of PMA patients we identified two SOD1 mutations (p.D90A, p.I113T), one ANG mutation (p.K17I), one FUS/TLS mutation (p.R521H), one TARDBP mutation (p.N352S), and one novel CHMP2B mutation (p.R69Q). The mutation frequency of these genes was similar in sporadic PMA (2.7%) and ALS (2.0%) patients, and therefore, our findings demonstrate a genetic overlap between apparently sporadic PMA and ALS.

Original languageEnglish (US)
Article numbere48983
JournalPloS one
Issue number11
StatePublished - Nov 14 2012

ASJC Scopus subject areas

  • General


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