Nine families with co-occurrence of SMA and ALS have been gathered over the last 15 years. To collect families in which ALS and SMA patients co-exist and describe the phenotype and the genotype of ALS patients. One important clinical issue for that is the co-occurrence of both diseases within a family. There is a growing literature supporting common pathophysiological patterns between those disorders. Phenotypic and genotypic studies of ALS cases in ALS-SMA families.Ĭorcia, Philippe Vourc'h, Patrick Blasco, Helene Couratier, Philippe Dangoumau, Audrey Bellance, Remi Desnuelle, Claude Viader, Fausto Pautot, Vivien Millecamps, Stephanie Bakkouche, Salah Salachas, FranÃ‡ois Andres, Christian R Meininger, Vincent Camu, WilliamĪmyotrophic lateral sclerosis ( ALS) and spinal muscular atrophy (SMA) are the most frequent motor neuron disorders in adulthood and infancy, respectively. The p.Gln165X mutation described in this study is the first. The p.Gln165X mutation could not be detected in 1070 healthy Danish controls, in 1000 Danish individuals with metabolic phenotypes or in 64 sporadic ALS (SALS) cases. patient with ALS, and the mutation segregated from his affected father. We found a heterozygous nonsense mutation (c.493C>T, p.Gln165X, exon 6) in the OPTN gene in a Danish.

Very recently., mutations of the optineurin gene (OPTN), which is involved in open-angle glaucoma, were identified in 3 Japanese patients/ families with ALS, and subsequently in a few FALS patients of European descent. The most common genetic cause of ALS is SOD1 (superoxide dismutase 1) mutation. About 10% of ALS cases are familial ( FALS) and the genetic defect is known only in approximately 20%-30% of these cases. TÃ¼mer, Zeynep Bertelsen, Birgitte Gredal, OleĪmyotrophic lateral sclerosis ( ALS) is a progressive neurodegenerative disorder. Novel heterozygous nonsense mutation of the OPTN gene segregating in a Danish family with ALS

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