OBJECTIVE: Mutations in the FUS gene on chromosome 16 have been recently discovered as a cause of familial amyotrophic lateral sclerosis (FALS). This study determined the frequency and identities of FUS gene mutations in a cohort of Italian patients with FALS. METHODS: We screened all 15 coding exons of FUS for mutations in 94 Italian patients with FALS. RESULTS: We identified 4 distinct missense mutations in 5 patients; 2 were novel. The mutations were not present in 376 healthy Italian controls and thus are likely to be pathogenic. CONCLUSIONS: Our results demonstrate that FUS mutations cause approximately 4% of familial amyotrophic lateral sclerosis cases in the Italian population.
OBJECTIVE: Mutations in the FUS gene on chromosome 16 have been recently discovered as a cause of familial amyotrophic lateral sclerosis (FALS). This study determined the frequency and identities of FUS gene mutations in a cohort of Italian patients with FALS. METHODS: We screened all 15 coding exons of FUS for mutations in 94 Italian patients with FALS. RESULTS: We identified 4 distinct missense mutations in 5 patients; 2 were novel. The mutations were not present in 376 healthy Italian controls and thus are likely to be pathogenic. CONCLUSIONS: Our results demonstrate that FUS mutations cause approximately 4% of familial amyotrophic lateral sclerosis cases in the Italian population.
Authors: Chris Panzeri; Clara De Palma; Andrea Martinuzzi; Andrea Daga; Gianni De Polo; Nereo Bresolin; Christopher C Miller; Elizabeth L Tudor; Emilio Clementi; Maria T Bassi Journal: Brain Date: 2006-05-02 Impact factor: 13.501
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
Authors: Magdalini Polymenidou; Clotilde Lagier-Tourenne; Kasey R Hutt; C Frank Bennett; Don W Cleveland; Gene W Yeo Journal: Brain Res Date: 2012-03-03 Impact factor: 3.252
Authors: Erika N Guerrero; Haibo Wang; Joy Mitra; Pavana M Hegde; Sara E Stowell; Nicole F Liachko; Brian C Kraemer; Ralph M Garruto; K S Rao; Muralidhar L Hegde Journal: Prog Neurobiol Date: 2016-09-28 Impact factor: 11.685
Authors: Ian R A Mackenzie; Manuela Neumann; Eileen H Bigio; Nigel J Cairns; Irina Alafuzoff; Jillian Kril; Gabor G Kovacs; Bernardino Ghetti; Glenda Halliday; Ida E Holm; Paul G Ince; Wouter Kamphorst; Tamas Revesz; Annemieke J M Rozemuller; Samir Kumar-Singh; Haruhiko Akiyama; Atik Baborie; Salvatore Spina; Dennis W Dickson; John Q Trojanowski; David M A Mann Journal: Acta Neuropathol Date: 2009-11-19 Impact factor: 17.088