Literature DB >> 17717710

SPG11: a consistent clinical phenotype in a family with homozygous spatacsin truncating mutation.

Roberto Del Bo1, Alessio Di Fonzo, Serena Ghezzi, Federica Locatelli, Giovanni Stevanin, Antonella Costa, Stefania Corti, Nereo Bresolin, Giacomo Pietro Comi.   

Abstract

Hereditary spastic paraplegias (HSP) are a heterogeneous group of neurodegenerative disorders leading to progressive spasticity of the lower limbs. Here, we describe clinical and genetic features in an Italian family affected by autosomal recessive HSP (ARHSP) with mental impairment and thin corpus callosum (TCC). In both affected subjects, genetic analysis revealed the presence of a homozygous small deletion (733_734delAT) leading to a frameshift (M245VfsX) within the coding region of SPG11 gene, encoding spatacsin. This finding is the first independent confirmation that spatacsin loss of function mutations cause ARHPS-TCC.

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Year:  2007        PMID： 17717710     DOI： 10.1007/s10048-007-0095-z

Source DB:  PubMed          Journal:  Neurogenetics        ISSN： 1364-6745            Impact factor:   2.660


  11 in total

Review 1.  Nonsense-mediated mRNA decay: splicing, translation and mRNP dynamics.

Authors:  Lynne E Maquat
Journal:  Nat Rev Mol Cell Biol       Date:  2004-02       Impact factor: 94.444

2.  Hereditary spastic paraplegia with thin corpus callosum: reduction of the SPG11 interval and evidence for further genetic heterogeneity.

Authors:  Alexander Lossos; Giovanni Stevanin; Vardiella Meiner; Zohar Argov; Naima Bouslam; J P Newman; John M Gomori; Stephan Klebe; Israela Lerer; Nizar Elleuch; Shira Silverstein; Alexandra Durr; Oded Abramsky; Ziva Ben-Nariah; Alexis Brice
Journal:  Arch Neurol       Date:  2006-05

3.  Further clinical and genetic characterization of SPG11: hereditary spastic paraplegia with thin corpus callosum.

Authors:  A Olmez; G Uyanik; R K Ozgül; C Gross; S Cirak; B Elibol; B Anlar; B Winner; U Hehr; H Topaloglu; J Winkler
Journal:  Neuropediatrics       Date:  2006-04       Impact factor: 1.947

4.  Linkage of autosomal recessive hereditary spastic paraplegia with mental impairment and thin corpus callosum to chromosome 15A13-15.

Authors:  Y Shibasaki; H Tanaka; K Iwabuchi; S Kawasaki; H Kondo; K Uekawa; M Ueda; T Kamiya; Y Katayama; A Nakamura; H Takashima; M Nakagawa; M Masuda; H Utsumi; T Nakamuro; K Tada; K Kurohara; K Inoue; F Koike; T Sakai; S Tsuji; H Kobayashi
Journal:  Ann Neurol       Date:  2000-07       Impact factor: 10.422

5.  Genetic localization of a new locus for recessive familial spastic paraparesis to 15q13-15.

Authors:  F Martínez Murillo; H Kobayashi; E Pegoraro; G Galluzzi; G Creel; C Mariani; E Farina; E Ricci; G Alfonso; R M Pauli; E P Hoffman
Journal:  Neurology       Date:  1999-07-13       Impact factor: 9.910

6.  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

7.  Clinical progression and genetic analysis in hereditary spastic paraplegia with thin corpus callosum in spastic gait gene 11 (SPG11).

Authors:  Beate Winner; Goekhan Uyanik; Claudia Gross; Max Lange; Wilhelm Schulte-Mattler; Gerhard Schuierer; Joerg Marienhagen; Ute Hehr; Juergen Winkler
Journal:  Arch Neurol       Date:  2004-01

Review 8.  [Three patients of complicated form of autosomal recessive hereditary spastic paraplegia associated with hypoplasia of the corpus callosum].

Authors:  K Iwabuchi; Y Kubota; T Hanihara; H Nagatomo
Journal:  No To Shinkei       Date:  1994-10

9.  Mutations in SPG11, encoding spatacsin, are a major cause of spastic paraplegia with thin corpus callosum.

Authors:  Giovanni Stevanin; Filippo M Santorelli; Hamid Azzedine; Paula Coutinho; Jacques Chomilier; Paola S Denora; Elodie Martin; Anne-Marie Ouvrard-Hernandez; Alessandra Tessa; Naïma Bouslam; Alexander Lossos; Perrine Charles; José L Loureiro; Nizar Elleuch; Christian Confavreux; Vítor T Cruz; Merle Ruberg; Eric Leguern; Djamel Grid; Meriem Tazir; Bertrand Fontaine; Alessandro Filla; Enrico Bertini; Alexandra Durr; Alexis Brice
Journal:  Nat Genet       Date:  2007-02-18       Impact factor: 38.330

10.  Clinical and genetic studies in hereditary spastic paraplegia with thin corpus callosum.

Authors:  C Casali; E M Valente; E Bertini; G Montagna; C Criscuolo; G De Michele; M Villanova; M Damiano; A Pierallini; F Brancati; V Scarano; A Tessa; F Cricchi; G S Grieco; M Muglia; M Carella; B Martini; A Rossi; G A Amabile; G Nappi; A Filla; B Dallapiccola; F M Santorelli
Journal:  Neurology       Date:  2004-01-27       Impact factor: 9.910
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  13 in total

1.  Expanding the clinical spectrum of SPG11 gene mutations in recessive hereditary spastic paraplegia with thin corpus callosum.

Authors:  Alice Abdel Aleem; Nourhan Abu-Shahba; Dominika Swistun; Jennifer Silhavy; Stephanie L Bielas; Shifteh Sattar; Joseph G Gleeson; Maha S Zaki
Journal:  Eur J Med Genet       Date:  2010-11-12       Impact factor: 2.708

Review 2.  Recent advances in the genetics of spastic paraplegias.

Authors:  Giovanni Stevanin; Merle Ruberg; Alexis Brice
Journal:  Curr Neurol Neurosci Rep       Date:  2008-05       Impact factor: 5.081

Review 3.  Genetics of Amyotrophic Lateral Sclerosis.

Authors:  Mehdi Ghasemi; Robert H Brown
Journal:  Cold Spring Harb Perspect Med       Date:  2018-05-01       Impact factor: 6.915

4.  SPATACSIN mutations cause autosomal recessive juvenile amyotrophic lateral sclerosis.

Authors:  Antonio Orlacchio; Carla Babalini; Antonella Borreca; Clarice Patrono; Roberto Massa; Sarenur Basaran; Renato P Munhoz; Ekaterina A Rogaeva; Peter H St George-Hyslop; Giorgio Bernardi; Toshitaka Kawarai
Journal:  Brain       Date:  2010-01-28       Impact factor: 13.501

5.  Rapidly deteriorating course in Dutch hereditary spastic paraplegia type 11 patients.

Authors:  Susanne T de Bot; Rogier C Burggraaff; Johanna C Herkert; Helenius J Schelhaas; Bart Post; Adinda Diekstra; Reinout O van Vliet; Marjo S van der Knaap; Erik-Jan Kamsteeg; Hans Scheffer; Bart P van de Warrenburg; Corien C Verschuuren-Bemelmans; Hubertus P H Kremer
Journal:  Eur J Hum Genet       Date:  2013-02-27       Impact factor: 4.246

6.  Identification of a heterozygous genomic deletion in the spatacsin gene in SPG11 patients using high-resolution comparative genomic hybridization.

Authors:  Peter Bauer; Beate Winner; Rebecca Schüle; Claudia Bauer; Veronika Häfele; Ute Hehr; Michael Bonin; Michael Walter; Kathrin Karle; Thomas M Ringer; Olaf Riess; Jürgen Winkler; Ludger Schöls
Journal:  Neurogenetics       Date:  2008-09-12       Impact factor: 2.660

7.  SPG11 spastic paraplegia. A new cause of juvenile parkinsonism.

Authors:  Mathieu Anheim; Clotilde Lagier-Tourenne; Giovanni Stevanin; Marie Fleury; Alexandra Durr; Izzie Jacques Namer; Paola Denora; Alexis Brice; Jean-Louis Mandel; Michel Koenig; Christine Tranchant
Journal:  J Neurol       Date:  2009-02-09       Impact factor: 4.849

8.  Clinical variability and L-Dopa responsive Parkinsonism in hereditary spastic paraplegia 11.

Authors:  C M Everett; E Kara; K E Maresh; H Houlden
Journal:  J Neurol       Date:  2012-08-15       Impact factor: 4.849

9.  ALS5/SPG11/KIAA1840 mutations cause autosomal recessive axonal Charcot-Marie-Tooth disease.

Authors:  Celeste Montecchiani; Lucia Pedace; Temistocle Lo Giudice; Antonella Casella; Marzia Mearini; Fabrizio Gaudiello; José L Pedroso; Chiara Terracciano; Carlo Caltagirone; Roberto Massa; Peter H St George-Hyslop; Orlando G P Barsottini; Toshitaka Kawarai; Antonio Orlacchio
Journal:  Brain       Date:  2015-11-10       Impact factor: 13.501

10.  Clinical heterogeneity and genotype-phenotype correlations in hereditary spastic paraplegia because of Spatacsin mutations (SPG11).

Authors:  C Paisan-Ruiz; P Nath; N W Wood; A Singleton; H Houlden
Journal:  Eur J Neurol       Date:  2008-08-20       Impact factor: 6.089
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