Literature DB >> 30555096

Novel c.C2254T (p.Q752*) mutation in ZFYVE26 (SPG15) gene in a patient with hereditary spastic paraparesis.

Mirella Vinci1, Marco Fchera, Sebastiano Antonino Musumeci, Francesco Cali, Girolamo Aurelio Vitello.   

Abstract

Hereditary spastic paraplegias are clinically and genetically heterogeneous degenerative disorders, and pathological variants in the autosomal recessive ZFYVE26 gene are considered as very rare causes. We describe a novel mutation in ZFYVE26 gene found in a patient with autosomal recessive spastic paraplegias. The use of a 'target-gene' approach allowed us to expand the clinical spectrum associated with hereditary spastic paraplegias.

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Year:  2018        PMID： 30555096

Source DB:  PubMed          Journal:  J Genet        ISSN： 0022-1333            Impact factor:   1.166


  10 in total

Review 1.  The global epidemiology of hereditary ataxia and spastic paraplegia: a systematic review of prevalence studies.

Authors:  Luis Ruano; Claudia Melo; M Carolina Silva; Paula Coutinho
Journal:  Neuroepidemiology       Date:  2014-03-05       Impact factor: 3.282

2.  Mutation spectrum of NF1 gene in Italian patients with neurofibromatosis type 1 using Ion Torrent PGM™ platform.

Authors:  Francesco Calì; Valeria Chiavetta; Giuseppa Ruggeri; Maria Piccione; Angelo Selicorni; Daniela Palazzo; Maria Bonsignore; Anna Cereda; Maurizio Elia; Pinella Failla; Maria Grazia Figura; Agata Fiumara; Silvia Maitz; Giuseppa Maria Luana Mandarà; Teresa Mattina; Alda Ragalmuto; Corrado Romano; Martino Ruggieri; Roberto Salluzzo; Antonino Saporoso; Carmelo Schepis; Giovanni Sorge; Maria Spanò; Gaetano Tortorella; Valentino Romano
Journal:  Eur J Med Genet       Date:  2016-11-09       Impact factor: 2.708

3.  Cellular distribution and subcellular localization of spatacsin and spastizin, two proteins involved in hereditary spastic paraplegia.

Authors:  Reena Prity Murmu; Elodie Martin; Agnès Rastetter; Typhaine Esteves; Marie-Paule Muriel; Khalid Hamid El Hachimi; Paola Silvia Denora; Aurélien Dauphin; José Carlos Fernandez; Charles Duyckaerts; Alexis Brice; Frédéric Darios; Giovanni Stevanin
Journal:  Mol Cell Neurosci       Date:  2011-04-27       Impact factor: 4.314

Review 4.  Hereditary spastic paraplegias: an update.

Authors:  Christel Depienne; Giovanni Stevanin; Alexis Brice; Alexandra Durr
Journal:  Curr Opin Neurol       Date:  2007-12       Impact factor: 5.710

5.  Spastic paraplegia with thinning of the corpus callosum and white matter abnormalities: further mutations and relative frequency in ZFYVE26/SPG15 in the Italian population.

Authors:  Paola S Denora; Maria Muglia; Carlo Casali; Jérémy Truchetto; Gabriella Silvestri; Demetrio Messina; Amir Boukrhis; Angela Magariello; Anna Modoni; Marcella Masciullo; Alessandro Malandrini; Maurizio Morelli; Maria Fulvia de Leva; Marcello Villanova; Elisabetta Giugni; Luigi Citrigno; Teresa Rizza; Antonio Federico; Alberto Pierallini; Aldo Quattrone; Alessandro Filla; Alexis Brice; Giovanni Stevanin; Filippo M Santorelli
Journal:  J Neurol Sci       Date:  2008-12-13       Impact factor: 3.181

6.  Clinical and molecular characterization of hereditary spastic paraplegias: A next-generation sequencing panel approach.

Authors:  Daniela Burguez; Márcia Polese-Bonatto; Laís Alves Jacinto Scudeiro; Ingemar Björkhem; Ludger Schöls; Laura Bannach Jardim; Ursula Matte; Maria Luiza Saraiva-Pereira; Marina Siebert; Jonas Alex Morales Saute
Journal:  J Neurol Sci       Date:  2017-10-10       Impact factor: 3.181

7.  Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Authors:  Sue Richards; Nazneen Aziz; Sherri Bale; David Bick; Soma Das; Julie Gastier-Foster; Wayne W Grody; Madhuri Hegde; Elaine Lyon; Elaine Spector; Karl Voelkerding; Heidi L Rehm
Journal:  Genet Med       Date:  2015-03-05       Impact factor: 8.822

Review 8.  The Human Gene Mutation Database: building a comprehensive mutation repository for clinical and molecular genetics, diagnostic testing and personalized genomic medicine.

Authors:  Peter D Stenson; Matthew Mort; Edward V Ball; Katy Shaw; Andrew Phillips; David N Cooper
Journal:  Hum Genet       Date:  2014-01       Impact factor: 4.132

9.  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

10.  A hereditary spastic paraplegia mouse model supports a role of ZFYVE26/SPASTIZIN for the endolysosomal system.

Authors:  Mukhran Khundadze; Katrin Kollmann; Nicole Koch; Christoph Biskup; Sandor Nietzsche; Geraldine Zimmer; J Christopher Hennings; Antje K Huebner; Judit Symmank; Amir Jahic; Elena I Ilina; Kathrin Karle; Ludger Schöls; Michael Kessels; Thomas Braulke; Britta Qualmann; Ingo Kurth; Christian Beetz; Christian A Hübner
Journal:  PLoS Genet       Date:  2013-12-19       Impact factor: 5.917
  10 in total

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