Literature DB >> 16009903

Early-onset ALS with long-term survival associated with spastin gene mutation.

T Meyer1, A Schwan, J S Dullinger, J Brocke, K-T Hoffmann, C H Nolte, A Hopt, U Kopp, P Andersen, J T Epplen, P Linke.   

Abstract

The authors report a 73-year-old patient with a natural history of early-onset ALS for 49 years presenting with limb and bulbar amyotrophy and a pyramidal syndrome. Analysis of the locus SPG4 identified a heterozygous duplication mutation (c.304_309dupGCCTCG) within exon 1 of the spastin gene. We propose that sequence alterations of spastin may comprise a genetic risk factor in a greater spectrum of motor neuron disorders including clinical variants of ALS.

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Year:  2005        PMID： 16009903     DOI： 10.1212/01.wnl.0000167130.31618.0a

Source DB:  PubMed          Journal:  Neurology        ISSN： 0028-3878            Impact factor:   9.910


  16 in total

1.  TDP-43 pathology in a case of hereditary spastic paraplegia with a NIPA1/SPG6 mutation.

Authors:  Maria Martinez-Lage; Laura Molina-Porcel; Dana Falcone; Leo McCluskey; Virginia M-Y Lee; Vivianna M Van Deerlin; John Q Trojanowski
Journal:  Acta Neuropathol       Date:  2012-08       Impact factor: 17.088

Review 2.  Familial Amyotrophic Lateral Sclerosis.

Authors:  Kevin Boylan
Journal:  Neurol Clin       Date:  2015-09-08       Impact factor: 3.806

3.  Complex phenotype in an Italian family with a novel mutation in SPG3A.

Authors:  Maria Fulvia de Leva; Alessandro Filla; Chiara Criscuolo; Alessandra Tessa; Sabina Pappatà; Mario Quarantelli; Leonilda Bilo; Silvio Peluso; Antonella Antenora; Dario Longo; Filippo M Santorelli; Giuseppe De Michele
Journal:  J Neurol       Date:  2009-09-19       Impact factor: 4.849

4.  Interaction of two hereditary spastic paraplegia gene products, spastin and atlastin, suggests a common pathway for axonal maintenance.

Authors:  Katia Evans; Christian Keller; Karen Pavur; Kristen Glasgow; Bryan Conn; Brett Lauring
Journal:  Proc Natl Acad Sci U S A       Date:  2006-06-30       Impact factor: 11.205

Review 5.  Genetic causes of amyotrophic lateral sclerosis: new genetic analysis methodologies entailing new opportunities and challenges.

Authors:  Giuseppe Marangi; Bryan J Traynor
Journal:  Brain Res       Date:  2014-10-12       Impact factor: 3.252

6.  SPATACSIN mutations cause autosomal recessive juvenile amyotrophic lateral sclerosis.

Authors:  Antonio Orlacchio; Carla Babalini; Antonella Borreca; Clarice Patrono; Roberto Massa; Sarenur Basaran; Renato P Munhoz; Ekaterina A Rogaeva; Peter H St George-Hyslop; Giorgio Bernardi; Toshitaka Kawarai
Journal:  Brain       Date:  2010-01-28       Impact factor: 13.501

Review 7.  Hereditary spastic paraplegia: clinico-pathologic features and emerging molecular mechanisms.

Authors:  John K Fink
Journal:  Acta Neuropathol       Date:  2013-07-30       Impact factor: 17.088

Review 8.  Hereditary spastic paraplegia.

Authors:  John K Fink
Journal:  Curr Neurol Neurosci Rep       Date:  2006-01       Impact factor: 5.081

9.  Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways.

Authors:  Elizabeth T Cirulli; Brittany N Lasseigne; Slavé Petrovski; Peter C Sapp; Patrick A Dion; Claire S Leblond; Julien Couthouis; Yi-Fan Lu; Quanli Wang; Brian J Krueger; Zhong Ren; Jonathan Keebler; Yujun Han; Shawn E Levy; Braden E Boone; Jack R Wimbish; Lindsay L Waite; Angela L Jones; John P Carulli; Aaron G Day-Williams; John F Staropoli; Winnie W Xin; Alessandra Chesi; Alya R Raphael; Diane McKenna-Yasek; Janet Cady; J M B Vianney de Jong; Kevin P Kenna; Bradley N Smith; Simon Topp; Jack Miller; Athina Gkazi; Ammar Al-Chalabi; Leonard H van den Berg; Jan Veldink; Vincenzo Silani; Nicola Ticozzi; Christopher E Shaw; Robert H Baloh; Stanley Appel; Ericka Simpson; Clotilde Lagier-Tourenne; Stefan M Pulst; Summer Gibson; John Q Trojanowski; Lauren Elman; Leo McCluskey; Murray Grossman; Neil A Shneider; Wendy K Chung; John M Ravits; Jonathan D Glass; Katherine B Sims; Vivianna M Van Deerlin; Tom Maniatis; Sebastian D Hayes; Alban Ordureau; Sharan Swarup; John Landers; Frank Baas; Andrew S Allen; Richard S Bedlack; J Wade Harper; Aaron D Gitler; Guy A Rouleau; Robert Brown; Matthew B Harms; Gregory M Cooper; Tim Harris; Richard M Myers; David B Goldstein
Journal:  Science       Date:  2015-02-19       Impact factor: 47.728

10.  Adenylyl cyclase type 3, a marker of primary cilia, is reduced in primary cell culture and in lumbar spinal cord in situ in G93A SOD1 mice.

Authors:  Xiaoxing Ma; Randy Peterson; John Turnbull
Journal:  BMC Neurosci       Date:  2011-07-18       Impact factor: 3.288
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