BACKGROUND: The identification of mutations in the TARDBP and more recently the identification of mutations in the FUS gene as the cause of amyotrophic lateral sclerosis (ALS) is providing the field with new insight about the mechanisms involved in this severe neurodegenerative disease. METHODS: To extend these recent genetic reports, we screened the entire gene in a cohort of 200 patients with ALS. An additional 285 patients with sporadic ALS were screened for variants in exon 15 for which mutations were previously reported. RESULTS: In total, 3 different mutations were identified in 4 different patients, including 1 3-bp deletion in exon 3 of a patient with sporadic ALS and 2 missense mutations in exon 15 of 1 patient with familial ALS and 2 patients with sporadic ALS. CONCLUSIONS: Our study identified sporadic patients with mutations in the FUS gene. The accumulation and description of different genes and mutations helps to develop a more comprehensive picture of the genetic events underlying amyotrophic lateral sclerosis.
BACKGROUND: The identification of mutations in the TARDBP and more recently the identification of mutations in the FUS gene as the cause of amyotrophic lateral sclerosis (ALS) is providing the field with new insight about the mechanisms involved in this severe neurodegenerative disease. METHODS: To extend these recent genetic reports, we screened the entire gene in a cohort of 200 patients with ALS. An additional 285 patients with sporadic ALS were screened for variants in exon 15 for which mutations were previously reported. RESULTS: In total, 3 different mutations were identified in 4 different patients, including 1 3-bp deletion in exon 3 of a patient with sporadic ALS and 2 missense mutations in exon 15 of 1 patient with familial ALS and 2 patients with sporadic ALS. CONCLUSIONS: Our study identified sporadic patients with mutations in the FUS gene. The accumulation and description of different genes and mutations helps to develop a more comprehensive picture of the genetic events underlying amyotrophic lateral sclerosis.
Authors: G G Hicks; N Singh; A Nashabi; S Mai; G Bozek; L Klewes; D Arapovic; E K White; M J Koury; E M Oltz; L Van Kaer; H E Ruley Journal: Nat Genet Date: 2000-02 Impact factor: 38.330
Authors: M Kuroda; J Sok; L Webb; H Baechtold; F Urano; Y Yin; P Chung; D G de Rooij; A Akhmedov; T Ashley; D Ron Journal: EMBO J Date: 2000-02-01 Impact factor: 11.598
Authors: Manuela Neumann; Deepak M Sampathu; Linda K Kwong; Adam C Truax; Matthew C Micsenyi; Thomas T Chou; Jennifer Bruce; Theresa Schuck; Murray Grossman; Christopher M Clark; Leo F McCluskey; Bruce L Miller; Eliezer Masliah; Ian R Mackenzie; Howard Feldman; Wolfgang Feiden; Hans A Kretzschmar; John Q Trojanowski; Virginia M-Y Lee Journal: Science Date: 2006-10-06 Impact factor: 47.728
Authors: D R Rosen; T Siddique; D Patterson; D A Figlewicz; P Sapp; A Hentati; D Donaldson; J Goto; J P O'Regan; H X Deng Journal: Nature Date: 1993-03-04 Impact factor: 49.962
Authors: T J Kwiatkowski; D A Bosco; A L Leclerc; E Tamrazian; C R Vanderburg; C Russ; A Davis; J Gilchrist; E J Kasarskis; T Munsat; P Valdmanis; G A Rouleau; B A Hosler; P Cortelli; P J de Jong; Y Yoshinaga; J L Haines; M A Pericak-Vance; J Yan; N Ticozzi; T Siddique; D McKenna-Yasek; P C Sapp; H R Horvitz; J E Landers; R H Brown Journal: Science Date: 2009-02-27 Impact factor: 47.728
Authors: Caroline Vance; Boris Rogelj; Tibor Hortobágyi; Kurt J De Vos; Agnes Lumi Nishimura; Jemeen Sreedharan; Xun Hu; Bradley Smith; Deborah Ruddy; Paul Wright; Jeban Ganesalingam; Kelly L Williams; Vineeta Tripathi; Safa Al-Saraj; Ammar Al-Chalabi; P Nigel Leigh; Ian P Blair; Garth Nicholson; Jackie de Belleroche; Jean-Marc Gallo; Christopher C Miller; Christopher E Shaw Journal: Science Date: 2009-02-27 Impact factor: 47.728
Authors: F Agosta; A Chiò; M Cosottini; N De Stefano; A Falini; M Mascalchi; M A Rocca; V Silani; G Tedeschi; M Filippi Journal: AJNR Am J Neuroradiol Date: 2010-04-01 Impact factor: 3.825
Authors: Mariely DeJesus-Hernandez; Jannet Kocerha; NiCole Finch; Richard Crook; Matt Baker; Pamela Desaro; Amelia Johnston; Nicola Rutherford; Aleksandra Wojtas; Kathleen Kennelly; Zbigniew K Wszolek; Neill Graff-Radford; Kevin Boylan; Rosa Rademakers Journal: Hum Mutat Date: 2010-05 Impact factor: 4.878