Literature DB >> 14597333

Advances in the hereditary spastic paraplegias.

John K Fink1.   

Abstract

This review summarizes advances in understanding the genetics of the hereditary spastic paraplegias (HSPs), a diverse group of inherited disorders in which the primary symptom is insidiously progressive difficulty walking due to lower extremity spastic weakness. Twenty HSP loci and nine HSP genes have been discovered. This progress has yielded new insights into the diverse molecular pathogenesis that underlies these clinically similar disorders.

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Year:  2003        PMID： 14597333     DOI： 10.1016/j.expneurol.2003.08.005

Source DB:  PubMed          Journal:  Exp Neurol        ISSN： 0014-4886            Impact factor:   5.330


  27 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

2.  Modeling Axonal Defects in Hereditary Spastic Paraplegia with Human Pluripotent Stem Cells.

Authors:  Kyle R Denton; Chongchong Xu; Harsh Shah; Xue-Jun Li
Journal:  Front Biol (Beijing)       Date:  2016-09-28

3.  Mutations in the novel mitochondrial protein REEP1 cause hereditary spastic paraplegia type 31.

Authors:  Stephan Züchner; Gaofeng Wang; Khanh-Nhat Tran-Viet; Martha A Nance; Perry C Gaskell; Jeffery M Vance; Allison E Ashley-Koch; Margaret A Pericak-Vance
Journal:  Am J Hum Genet       Date:  2006-05-26       Impact factor: 11.025

4.  Pharmacologic rescue of axon growth defects in a human iPSC model of hereditary spastic paraplegia SPG3A.

Authors:  Peng-Peng Zhu; Kyle R Denton; Tyler Mark Pierson; Xue-Jun Li; Craig Blackstone
Journal:  Hum Mol Genet       Date:  2014-06-06       Impact factor: 6.150

5.  Spastic paraplegia with thin corpus callosum: description of 20 new families, refinement of the SPG11 locus, candidate gene analysis and evidence of genetic heterogeneity.

Authors:  Giovanni Stevanin; Giorgia Montagna; Hamid Azzedine; Enza Maria Valente; Alexandra Durr; Valentina Scarano; Naima Bouslam; Denise Cassandrini; Paola S Denora; Chiara Criscuolo; Soraya Belarbi; Antonio Orlacchio; Philippe Jonveaux; Gabriella Silvestri; Anne Marie Ouvrad Hernandez; Giuseppe De Michele; Meriem Tazir; Caterina Mariotti; Knut Brockmann; Alessandro Malandrini; Marjo S van der Knapp; Marcella Neri; Hassan Tonekaboni; Mariarosa A B Melone; Alessandra Tessa; M Teresa Dotti; Michela Tosetti; Flavia Pauri; Antonio Federico; Carlo Casali; Vitor T Cruz; José L Loureiro; Federico Zara; Sylvie Forlani; Enrico Bertini; Paula Coutinho; Alessandro Filla; Alexis Brice; Filippo M Santorelli
Journal:  Neurogenetics       Date:  2006-05-13       Impact factor: 2.660

6.  Membrane fusion by the GTPase atlastin requires a conserved C-terminal cytoplasmic tail and dimerization through the middle domain.

Authors:  Tyler J Moss; Camilla Andreazza; Avani Verma; Andrea Daga; James A McNew
Journal:  Proc Natl Acad Sci U S A       Date:  2011-06-20       Impact factor: 11.205

7.  Autosomal dominant hereditary spastic paraplegia: report of a large Italian family with R581X spastin mutation.

Authors:  P Aridon; P Ragonese; M De Fusco; D Lo Coco; G Salemi; G Casari; G Savettieri
Journal:  Neurol Sci       Date:  2007-08-10       Impact factor: 3.307

8.  Quantitative and functional analyses of spastin in the nervous system: implications for hereditary spastic paraplegia.

Authors:  Joanna M Solowska; Gerardo Morfini; Aditi Falnikar; B Timothy Himes; Scott T Brady; Dongyang Huang; Peter W Baas
Journal:  J Neurosci       Date:  2008-02-27       Impact factor: 6.167

9.  Alteration of fatty-acid-metabolizing enzymes affects mitochondrial form and function in hereditary spastic paraplegia.

Authors:  Christelle Tesson; Magdalena Nawara; Mustafa A M Salih; Rodrigue Rossignol; Maha S Zaki; Mohammed Al Balwi; Rebecca Schule; Cyril Mignot; Emilie Obre; Ahmed Bouhouche; Filippo M Santorelli; Christelle M Durand; Andrés Caballero Oteyza; Khalid H El-Hachimi; Abdulmajeed Al Drees; Naima Bouslam; Foudil Lamari; Salah A Elmalik; Mohammad M Kabiraj; Mohammed Z Seidahmed; Typhaine Esteves; Marion Gaussen; Marie-Lorraine Monin; Gabor Gyapay; Doris Lechner; Michael Gonzalez; Christel Depienne; Fanny Mochel; Julie Lavie; Ludger Schols; Didier Lacombe; Mohamed Yahyaoui; Ibrahim Al Abdulkareem; Stephan Zuchner; Atsushi Yamashita; Ali Benomar; Cyril Goizet; Alexandra Durr; Joseph G Gleeson; Frederic Darios; Alexis Brice; Giovanni Stevanin
Journal:  Am J Hum Genet       Date:  2012-11-21       Impact factor: 11.025

10.  A missense mutation in SLC33A1, which encodes the acetyl-CoA transporter, causes autosomal-dominant spastic paraplegia (SPG42).

Authors:  Pengfei Lin; Jianwei Li; Qiji Liu; Fei Mao; Jisheng Li; Rongfang Qiu; Huili Hu; Yang Song; Yang Yang; Guimin Gao; Chuanzhu Yan; Wanling Yang; Changshun Shao; Yaoqin Gong
Journal:  Am J Hum Genet       Date:  2008-12       Impact factor: 11.025
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