23 research outputs found
Testing the validity of a set of diagnostic criteria for sensory neuronopathies: a francophone collaborative study
B cell-rich non-neoplastic sentinel lesion preceding primary central nervous system lymphoma
Switching from natalizumab to fingolimod in multiple sclerosis: a French prospective study
International audienc
Paraneoplastic Rhombencephalitis and Brachial Plexopathy in Two Cases of Amphiphysin Auto-Immunity
Anti-Hu Antibody Associated Paraneoplastic Cerebellar Degeneration in Head and Neck Cancer
Genetic Overlap between Apparently Sporadic Motor Neuron Diseases
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107990.pdf (publisher's version ) (Open Access)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