Literature DB >> 21336785

Late-onset hereditary spastic paraplegia with thin corpus callosum caused by a new SPG3A mutation.

Antonio Orlacchio, Pasqua Montieri, Carla Babalini, Fabrizio Gaudiello, Giorgio Bernardi, Toshitaka Kawarai.   

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Year:  2011        PMID： 21336785     DOI： 10.1007/s00415-011-5934-z

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


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  11 in total

Review 1.  Hereditary spastic paraplegia: clinical features and pathogenetic mechanisms.

Authors:  Sara Salinas; Christos Proukakis; Andrew Crosby; Thomas T Warner
Journal:  Lancet Neurol       Date:  2008-12       Impact factor: 44.182

2.  The Spastic Paraplegia Rating Scale (SPRS): a reliable and valid measure of disease severity.

Authors:  R Schüle; T Holland-Letz; S Klimpe; J Kassubek; T Klopstock; V Mall; S Otto; B Winner; L Schöls
Journal:  Neurology       Date:  2006-08-08       Impact factor: 9.910

3.  A new locus (SPG46) maps to 9p21.2-q21.12 in a Tunisian family with a complicated autosomal recessive hereditary spastic paraplegia with mental impairment and thin corpus callosum.

Authors:  Amir Boukhris; Imed Feki; Nizar Elleuch; Mohamed Imed Miladi; Anne Boland-Augé; Jérémy Truchetto; Emeline Mundwiller; Nadia Jezequel; Diana Zelenika; Chokri Mhiri; Alexis Brice; Giovanni Stevanin
Journal:  Neurogenetics       Date:  2010-07-01       Impact factor: 2.660

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.  Clinical heterogeneity of autosomal recessive spastic paraplegias: analysis of 106 patients in 46 families.

Authors:  P Coutinho; J Barros; R Zemmouri; J Guimarães; C Alves; R Chorão; E Lourenço; P Ribeiro; J L Loureiro; J V Santos; A Hamri; C Paternotte; J Hazan; M C Silva; J F Prud'homme; D Grid
Journal:  Arch Neurol       Date:  1999-08

6.  SPG3A is the most frequent cause of hereditary spastic paraplegia with onset before age 10 years.

Authors:  M Namekawa; P Ribai; I Nelson; S Forlani; F Fellmann; C Goizet; C Depienne; G Stevanin; M Ruberg; A Dürr; A Brice
Journal:  Neurology       Date:  2006-01-10       Impact factor: 9.910

7.  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

8.  Spastin and atlastin, two proteins mutated in autosomal-dominant hereditary spastic paraplegia, are binding partners.

Authors:  Christopher M Sanderson; James W Connell; Thomas L Edwards; Nicholas A Bright; Simon Duley; Amanda Thompson; J Paul Luzio; Evan Reid
Journal:  Hum Mol Genet       Date:  2005-12-08       Impact factor: 6.150

9.  A new SPG4 mutation in a variant form of spastic paraplegia with congenital arachnoid cysts.

Authors:  A Orlacchio; F Gaudiello; A Totaro; R Floris; P H St George-Hyslop; G Bernardi; T Kawarai
Journal:  Neurology       Date:  2004-05-25       Impact factor: 9.910

10.  Hereditary spastic paraplegia: clinical genetic study of 15 families.

Authors:  Antonio Orlacchio; Toshitaka Kawarai; Antonio Totaro; Alessia Errico; Peter H St George-Hyslop; Elena I Rugarli; Giorgio Bernardi
Journal:  Arch Neurol       Date:  2004-06
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  13 in total

Review 1.  Hereditary Spastic Paraplegia: Clinical and Genetic Hallmarks.

Authors:  Paulo Victor Sgobbi de Souza; Wladimir Bocca Vieira de Rezende Pinto; Gabriel Novaes de Rezende Batistella; Thiago Bortholin; Acary Souza Bulle Oliveira
Journal:  Cerebellum       Date:  2017-04       Impact factor: 3.847

Review 2.  Recent advances in clinical neurogenetics.

Authors:  José Berciano
Journal:  J Neurol       Date:  2012-11-16       Impact factor: 4.849

Review 3.  Clinical neurogenetics: recent advances.

Authors:  Davide Pareyson; Ettore Salsano
Journal:  J Neurol       Date:  2012-07-21       Impact factor: 4.849

4.  Hereditary spastic paraplegia-linked REEP1 modulates endoplasmic reticulum/mitochondria contacts.

Authors:  Youngshin Lim; Il-Taeg Cho; Leah J Schoel; Ginam Cho; Jeffrey A Golden
Journal:  Ann Neurol       Date:  2015-09-16       Impact factor: 10.422

5.  Mutations in LNPK, Encoding the Endoplasmic Reticulum Junction Stabilizer Lunapark, Cause a Recessive Neurodevelopmental Syndrome.

Authors:  Martin W Breuss; An Nguyen; Qiong Song; Thai Nguyen; Valentina Stanley; Kiely N James; Damir Musaev; Guoliang Chai; Sara A Wirth; Paula Anzenberg; Renee D George; Anide Johansen; Shaila Ali; Muhammad Zia-Ur-Rehman; Tipu Sultan; Maha S Zaki; Joseph G Gleeson
Journal:  Am J Hum Genet       Date:  2018-07-19       Impact factor: 11.025

Review 6.  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

7.  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

8.  Homozygous mutation in Atlastin GTPase 1 causes recessive hereditary spastic paraplegia.

Authors:  Lena Willkomm; Raul Heredia; Katrin Hoffmann; Haicui Wang; Thomas Voit; Eric P Hoffman; Sebahattin Cirak
Journal:  J Hum Genet       Date:  2016-02-18       Impact factor: 3.172

9.  Clinical features and genotype-phenotype correlation analysis in patients with ATL1 mutations: A literature reanalysis.

Authors:  Guo-Hua Zhao; Xiao-Min Liu
Journal:  Transl Neurodegener       Date:  2017-04-04       Impact factor: 8.014

10.  Clinical spectrum and genetic landscape for hereditary spastic paraplegias in China.

Authors:  En-Lin Dong; Chong Wang; Shuang Wu; Ying-Qian Lu; Xiao-Hong Lin; Hui-Zhen Su; Miao Zhao; Jin He; Li-Xiang Ma; Ning Wang; Wan-Jin Chen; Xiang Lin
Journal:  Mol Neurodegener       Date:  2018-07-06       Impact factor: 14.195
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