Literature DB >> 15742100

The R495W mutation in SPG3A causes spastic paraplegia associated with axonal neuropathy.

Valentina Scarano1, Pietro Mancini, Chiara Criscuolo, Giuseppe De Michele, Carlo Rinaldi, Tecla Tucci, Alessandra Tessa, Filippo M Santorelli, Anna Perretti, Lucio Santoro, Alessandro Filla.   

Abstract

Mutations in the SPG3A gene cause a form of pure, early-onset autosomal dominant hereditary spastic paraplegia linked to chromosome 14q. The encoded protein, atlastin, is a putative member of the dynamin superfamily of large GTPases involved in cellular trafficking patterns. We report a new atlastin mutation causing spastic paraplegia in association with axonal neuropathy in an Italian family.

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Year:  2005        PMID： 15742100     DOI： 10.1007/s00415-005-0768-1

Source DB:  PubMed          Journal:  J Neurol        ISSN： 0340-5354            Impact factor:   4.849


  10 in total

Review 1.  The dynamin family of mechanoenzymes: pinching in new places.

Authors:  M A McNiven; H Cao; K R Pitts; Y Yoon
Journal:  Trends Biochem Sci       Date:  2000-03       Impact factor: 13.807

2.  Further evidence that SPG3A gene mutations cause autosomal dominant hereditary spastic paraplegia.

Authors:  Maria Muglia; Angela Magariello; Giuseppe Nicoletti; Alessandra Patitucci; Anna Lia Gabriele; Francesca Luisa Conforti; Rosalucia Mazzei; Manuela Caracciolo; Bonaventura Ardito; Marcello Lastilla; Gioacchino Tedeschi; Aldo Quattrone
Journal:  Ann Neurol       Date:  2002-06       Impact factor: 10.422

3.  SPG3A: An additional family carrying a new atlastin mutation.

Authors:  A Tessa; C Casali; M Damiano; C Bruno; D Fortini; C Patrono; F Cricchi; M Valoppi; G Nappi; G A Amabile; E Bertini; F M Santorelli
Journal:  Neurology       Date:  2002-12-24       Impact factor: 9.910

4.  Mutations in a newly identified GTPase gene cause autosomal dominant hereditary spastic paraplegia.

Authors:  X Zhao; D Alvarado; S Rainier; R Lemons; P Hedera; C H Weber; T Tukel; M Apak; T Heiman-Patterson; L Ming; M Bui; J K Fink
Journal:  Nat Genet       Date:  2001-11       Impact factor: 38.330

5.  Charcot-Marie-Tooth disease type 2A caused by mutation in a microtubule motor KIF1Bbeta.

Authors:  C Zhao; J Takita; Y Tanaka; M Setou; T Nakagawa; S Takeda; H W Yang; S Terada; T Nakata; Y Takei; M Saito; S Tsuji; Y Hayashi; N Hirokawa
Journal:  Cell       Date:  2001-06-01       Impact factor: 41.582

6.  Cellular localization, oligomerization, and membrane association of the hereditary spastic paraplegia 3A (SPG3A) protein atlastin.

Authors:  Peng-Peng Zhu; Andrew Patterson; Brigitte Lavoie; Julia Stadler; Marwa Shoeb; Rakesh Patel; Craig Blackstone
Journal:  J Biol Chem       Date:  2003-09-23       Impact factor: 5.157

7.  A kinesin heavy chain (KIF5A) mutation in hereditary spastic paraplegia (SPG10).

Authors:  Evan Reid; Mark Kloos; Allison Ashley-Koch; Lori Hughes; Simon Bevan; Ingrid K Svenson; Felicia Lennon Graham; Perry C Gaskell; Andrew Dearlove; Margaret A Pericak-Vance; David C Rubinsztein; Douglas A Marchuk
Journal:  Am J Hum Genet       Date:  2002-09-24       Impact factor: 11.025

8.  Novel mutations in the Atlastin gene (SPG3A) in families with autosomal dominant hereditary spastic paraplegia and evidence for late onset forms of HSP linked to the SPG3A locus.

Authors:  S M Sauter; W Engel; L M Neumann; J Kunze; J Neesen
Journal:  Hum Mutat       Date:  2004-01       Impact factor: 4.878

9.  Disruption of dynein/dynactin inhibits axonal transport in motor neurons causing late-onset progressive degeneration.

Authors:  Bernadette H LaMonte; Karen E Wallace; Beth A Holloway; Spencer S Shelly; Jennifer Ascaño; Mariko Tokito; Thomas Van Winkle; David S Howland; Erika L F Holzbaur
Journal:  Neuron       Date:  2002-05-30       Impact factor: 17.173

10.  Infancy onset hereditary spastic paraplegia associated with a novel atlastin mutation.

Authors:  F Dalpozzo; M G Rossetto; F Boaretto; E Sartori; M L Mostacciuolo; A Daga; M T Bassi; A Martinuzzi
Journal:  Neurology       Date:  2003-08-26       Impact factor: 9.910
  10 in total
  13 in total

1.  A novel mutation in the SPG3A gene (atlastin) in hereditary spastic paraplegia.

Authors:  Masaru Matsui; Toshitaka Kawarai; Yoshiki Hase; Hidekazu Tomimoto; Kazumi Iseki; Ekaterina Rogaeva; Antonio Orlacchio; Giorgio Bernardi; Peter St George-Hyslop; Ryosuke Takahashi; Makoto Matsui
Journal:  J Neurol       Date:  2007-03-22       Impact factor: 4.849

2.  Extending the clinical spectrum of SPG3A mutations to a very severe and very early complicated phenotype.

Authors:  J Haberlová; K G Claeys; J Zámecník; P De Jonghe; P Seeman
Journal:  J Neurol       Date:  2008-04-30       Impact factor: 4.849

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.  Emerging pathways for hereditary axonopathies.

Authors:  Stephan Züchner; Jeffery M Vance
Journal:  J Mol Med (Berl)       Date:  2005-08-31       Impact factor: 4.599

6.  Zebrafish atlastin controls motility and spinal motor axon architecture via inhibition of the BMP pathway.

Authors:  Coralie Fassier; James A Hutt; Steffen Scholpp; Andrew Lumsden; Bruno Giros; Fatiha Nothias; Sylvie Schneider-Maunoury; Corinne Houart; Jamilé Hazan
Journal:  Nat Neurosci       Date:  2010-10-10       Impact factor: 24.884

7.  A novel mutation in KIF5A gene causing hereditary spastic paraplegia with axonal neuropathy.

Authors:  Olimpia Musumeci; Maria Teresa Bassi; Anna Mazzeo; Marina Grandis; Claudia Crimella; Andrea Martinuzzi; Antonio Toscano
Journal:  Neurol Sci       Date:  2010-11-24       Impact factor: 3.307

8.  Reduced penetrance of an eastern French mutation in ATL1 autosomal-dominant inheritance (SPG3A): extended phenotypic spectrum coupled with brain 18F-FDG PET.

Authors:  Armand Hocquel; Jean-Marie Ravel; Laetitia Lambert; Céline Bonnet; Guillaume Banneau; Bophara Kol; Laurène Tissier; Lucie Hopes; Mylène Meyer; Céline Dillier; Maud Michaud; Arnaud Lardin; Anne-Laure Kaminsky; Emmanuelle Schmitt; Liang Liao; François Zhu; Bronner Myriam; Carine Bossenmeyer-Pourié; Antoine Verger; Mathilde Renaud
Journal:  Neurogenetics       Date:  2022-07-05       Impact factor: 2.660

9.  A new phenotype linked to SPG27 and refinement of the critical region on chromosome.

Authors:  Pascale Ribai; Giovanni Stevanin; Naima Bouslam; Bénédicte Pontier; Isabelle Nelson; Bertrand Fontaine; Christel Dussert; Céline Charon; Alexandra Durr; Alexis Brice
Journal:  J Neurol       Date:  2006-03-06       Impact factor: 4.849

10.  Evidence for autosomal recessive inheritance in SPG3A caused by homozygosity for a novel ATL1 missense mutation.

Authors:  Tahir Naeem Khan; Joakim Klar; Muhammad Tariq; Shehla Anjum Baig; Naveed Altaf Malik; Raja Yousaf; Shahid Mahmood Baig; Niklas Dahl
Journal:  Eur J Hum Genet       Date:  2014-01-29       Impact factor: 4.246
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