Literature DB >> 11220750

Compound heterozygous D90A and D96N SOD1 mutations in a recessive amyotrophic lateral sclerosis family.

C K Hand1, V Mayeux-Portas, J Khoris, V Briolotti, P Clavelou, W Camu, G A Rouleau.   

Abstract

We describe a French amyotrophic lateral sclerosis (ALS) family with two distinct mutations in the Cu/Zn superoxide dismutase (SOD1) gene. The D90A mutation has been well described and clearly shown to cause recessive ALS. In this family, affected individuals are heterozygous for the D90A mutation and also carry a single copy of a novel SOD1 mutation, D96N. We propose that in this family both mutations are required for the development of disease.

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Year:  2001        PMID： 11220750     DOI： 10.1002/1531-8249(20010201)49:2<267::aid-ana51>3.0.co;2-d

Source DB:  PubMed          Journal:  Ann Neurol        ISSN： 0364-5134            Impact factor:   10.422


  16 in total

1.  The epidemiology of CuZn-SOD mutations in Germany: a study of 217 families.

Authors:  Malessa Rabe; Ansgar Felbecker; Stefan Waibel; Peter Steinbach; Pia Winter; Ulrich Müller; Albert C Ludolph
Journal:  J Neurol       Date:  2010-03-23       Impact factor: 4.849

Review 2.  Clinical genetics of amyotrophic lateral sclerosis: what do we really know?

Authors:  Peter M Andersen; Ammar Al-Chalabi
Journal:  Nat Rev Neurol       Date:  2011-10-11       Impact factor: 42.937

Review 3.  Gene discovery in amyotrophic lateral sclerosis: implications for clinical management.

Authors:  Ammar Al-Chalabi; Leonard H van den Berg; Jan Veldink
Journal:  Nat Rev Neurol       Date:  2016-12-16       Impact factor: 42.937

4.  Phenotypic heterogeneity in a SOD1 G93D Italian ALS family: an example of human model to study a complex disease.

Authors:  Silvana Penco; Christian Lunetta; Lorena Mosca; Eleonora Maestri; Francesca Avemaria; Claudia Tarlarini; Maria Cristina Patrosso; Alessandro Marocchi; Massimo Corbo
Journal:  J Mol Neurosci       Date:  2010-12-01       Impact factor: 3.444

5.  ALS/FTD phenotype in two Sardinian families carrying both C9ORF72 and TARDBP mutations.

Authors:  Adriano Chiò; Gabriella Restagno; Maura Brunetti; Irene Ossola; Andrea Calvo; Antonio Canosa; Cristina Moglia; Gianluca Floris; Paolo Tacconi; Francesco Marrosu; Maria Giovanna Marrosu; Maria Rita Murru; Elisa Majounie; Alan E Renton; Yvegeniya Abramzon; Maura Pugliatti; Maria Alessandra Sotgiu; Bryan J Traynor; Giuseppe Borghero
Journal:  J Neurol Neurosurg Psychiatry       Date:  2012-05-01       Impact factor: 10.154

Review 6.  Immature copper-zinc superoxide dismutase and familial amyotrophic lateral sclerosis.

Authors:  Sai V Seetharaman; Mercedes Prudencio; Celeste Karch; Stephen P Holloway; David R Borchelt; P John Hart
Journal:  Exp Biol Med (Maywood)       Date:  2009-07-13

7.  Geographic distribution of amyotrophic lateral sclerosis through motor neuron disease mortality data.

Authors:  Raffaella Uccelli; Alessandra Binazzi; Pierluigi Altavista; Stefano Belli; Pietro Comba; Marina Mastrantonio; Nicola Vanacore
Journal:  Eur J Epidemiol       Date:  2007-09-14       Impact factor: 8.082

Review 8.  Costeff optic atrophy syndrome: new clinical case and novel molecular findings.

Authors:  G Ho; J H Walter; J Christodoulou
Journal:  J Inherit Metab Dis       Date:  2008-11-07       Impact factor: 4.982

Review 9.  Genetics of motor neuron disorders: new insights into pathogenic mechanisms.

Authors:  Patrick A Dion; Hussein Daoud; Guy A Rouleau
Journal:  Nat Rev Genet       Date:  2009-10-13       Impact factor: 53.242

10.  Heterozygous SOD1 D90A mutation presenting as slowly progressive predominant upper motor neuron amyotrophic lateral sclerosis.

Authors:  Marco Luigetti; Amelia Conte; Francesca Madia; Giuseppe Marangi; Marcella Zollino; Irene Mancuso; Michele Dileone; Alessandra Del Grande; Vincenzo Di Lazzaro; Pietro Attilio Tonali; Mario Sabatelli
Journal:  Neurol Sci       Date:  2009-08-15       Impact factor: 3.307
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