Genetic Overlap between Apparently Sporadic Motor Neuron Diseases

M.M. van Blitterswijk, Lotte Vlam, MA van Es, W.L. van der Pol, E.A.M. Hennekam, D. Dooijes, H.J. Schelhaas, A.J. van der Kooi, M. de Visser, J.H. Veldink, L.H. van den Berg

Research output: Contribution to journalArticleAcademicpeer-review

14 Citations (Scopus)

Abstract

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. © 2012 van Blitterswijk et al.

Original languageEnglish
Article numbere48983
Number of pages6
JournalPLoS ONE [E]
Volume7
Issue number11
DOIs
Publication statusPublished - 2012

Keywords

  • AMYOTROPHIC-LATERAL-SCLEROSIS
  • PROGRESSIVE MUSCULAR-ATROPHY
  • FRONTOTEMPORAL LOBAR DEGENERATION
  • HEXANUCLEOTIDE REPEAT
  • SUPEROXIDE-DISMUTASE
  • CLINICAL-FEATURES
  • FUS MUTATIONS
  • TARDBP MUTATIONS
  • FAMILIAL ALS
  • EL-ESCORIAL

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