Literature DB >> 16187141

A common founder for amyotrophic lateral sclerosis type 8 (ALS8) in the Brazilian population.

Agnes L Nishimura1, Ammar Al-Chalabi, Mayana Zatz.   

Abstract

The P56S mutation in the VAPB gene causes ALS8. Eight families, comprising more than 1,500 individuals of whom about 200 are affected, are now known to carry this mutation. Seven are of Portuguese-Brazilian ancestry and one of African-Brazilian ancestry. Haplotype analysis shows a common founder for all families regardless of ancestry, with a founding event 23 generations ago (95% CI 13-39), consistent with the Portuguese colonization of Brazil.

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Year:  2005        PMID： 16187141     DOI： 10.1007/s00439-005-0031-y

Source DB:  PubMed          Journal:  Hum Genet        ISSN： 0340-6717            Impact factor:   4.132


  5 in total

1.  D90A-SOD1 mediated amyotrophic lateral sclerosis: a single founder for all cases with evidence for a Cis-acting disease modifier in the recessive haplotype.

Authors:  Matthew J Parton; Wendy Broom; Peter M Andersen; Ammar Al-Chalabi; P Nigel Leigh; John F Powell; Christopher E Shaw
Journal:  Hum Mutat       Date:  2002-12       Impact factor: 4.878

2.  Estimating the age of rare disease mutations: the example of Triple-A syndrome.

Authors:  E Genin; A Tullio-Pelet; F Begeot; S Lyonnet; L Abel
Journal:  J Med Genet       Date:  2004-06       Impact factor: 6.318

3.  Autosomal dominant late adult spinal muscular atrophy, type Finkel.

Authors:  A Richieri-Costa; A Rogatko; R Levisky; N Finkel; O Frota-Pessoa
Journal:  Am J Med Genet       Date:  1981

4.  A mutation in the vesicle-trafficking protein VAPB causes late-onset spinal muscular atrophy and amyotrophic lateral sclerosis.

Authors:  Agnes L Nishimura; Miguel Mitne-Neto; Helga C A Silva; Antônio Richieri-Costa; Susan Middleton; Duilio Cascio; Fernando Kok; João R M Oliveira; Tom Gillingwater; Jeanette Webb; Paul Skehel; Mayana Zatz
Journal:  Am J Hum Genet       Date:  2004-09-15       Impact factor: 11.025

5.  Recessive amyotrophic lateral sclerosis families with the D90A SOD1 mutation share a common founder: evidence for a linked protective factor.

Authors:  A Al-Chalabi; P M Andersen; B Chioza; C Shaw; P C Sham; W Robberecht; G Matthijs; W Camu; S L Marklund; L Forsgren; G Rouleau; N G Laing; P V Hurse; T Siddique; P N Leigh; J F Powell
Journal:  Hum Mol Genet       Date:  1998-12       Impact factor: 6.150
  5 in total
  42 in total

Review 1.  Endoplasmic reticulum architecture: structures in flux.

Authors:  Nica Borgese; Maura Francolini; Erik Snapp
Journal:  Curr Opin Cell Biol       Date:  2006-06-27       Impact factor: 8.382

2.  Structural requirements for VAP-B oligomerization and their implication in amyotrophic lateral sclerosis-associated VAP-B(P56S) neurotoxicity.

Authors:  SoHui Kim; Sónia S Leal; Daniel Ben Halevy; Cláudio M Gomes; Sima Lev
Journal:  J Biol Chem       Date:  2010-03-05       Impact factor: 5.157

Review 3.  Bridging the molecular and biological functions of the oxysterol-binding protein family.

Authors:  Antonietta Pietrangelo; Neale D Ridgway
Journal:  Cell Mol Life Sci       Date:  2018-03-13       Impact factor: 9.261

4.  LRRK2 G2019S in families with Parkinson disease who originated from Europe and the Middle East: evidence of two distinct founding events beginning two millennia ago.

Authors:  Cyrus P Zabetian; Carolyn M Hutter; Dora Yearout; Alexis N Lopez; Stewart A Factor; Alida Griffith; Berta C Leis; Thomas D Bird; John G Nutt; Donald S Higgins; John W Roberts; Denise M Kay; Karen L Edwards; Ali Samii; Haydeh Payami
Journal:  Am J Hum Genet       Date:  2006-08-17       Impact factor: 11.025

5.  Ligand-dependent localization and function of ORP-VAP complexes at membrane contact sites.

Authors:  Marion Weber-Boyvat; Henriikka Kentala; Johan Peränen; Vesa M Olkkonen
Journal:  Cell Mol Life Sci       Date:  2014-11-25       Impact factor: 9.261

Review 6.  Genetics of motor neuron disease.

Authors:  Ludo Van Den Bosch; Vincent Timmerman
Journal:  Curr Neurol Neurosci Rep       Date:  2006-09       Impact factor: 5.081

Review 7.  ER stress and unfolded protein response in amyotrophic lateral sclerosis.

Authors:  Kohsuke Kanekura; Hiroaki Suzuki; Sadakazu Aiso; Masaaki Matsuoka
Journal:  Mol Neurobiol       Date:  2009-01-30       Impact factor: 5.590

8.  The p.P56S mutation in the VAPB gene is not due to a single founder: the first European case.

Authors:  A D Funke; M Esser; A Krüttgen; J Weis; M Mitne-Neto; M Lazar; A L Nishimura; A D Sperfeld; P Trillenberg; J Senderek; M Krasnianski; M Zatz; S Zierz; M Deschauer
Journal:  Clin Genet       Date:  2010-03       Impact factor: 4.438

9.  hVAPB, the causative gene of a heterogeneous group of motor neuron diseases in humans, is functionally interchangeable with its Drosophila homologue DVAP-33A at the neuromuscular junction.

Authors:  Andrea Chai; James Withers; Young Ho Koh; Katherine Parry; Hong Bao; Bing Zhang; Vivian Budnik; Giuseppa Pennetta
Journal:  Hum Mol Genet       Date:  2007-10-18       Impact factor: 6.150

10.  A novel mutation of VAPB in one Chinese familial amyotrophic lateral sclerosis pedigree and its clinical characteristics.

Authors:  Yi-Min Sun; Yi Dong; Jian Wang; Jia-Hong Lu; Yan Chen; Jian-Jun Wu
Journal:  J Neurol       Date:  2017-10-09       Impact factor: 4.849
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