Literature DB >> 25547330

Charcot-Marie-Tooth 2F: phenotypic presentation of the Arg136Leu HSP27 mutation in a multigenerational family.

Claudia Stancanelli1, Gian Maria Fabrizi, Moreno Ferrarini, Tiziana Cavallaro, Federica Taioli, Rita Di Leo, Massimo Russo, Luca Gentile, Antonio Toscano, Giuseppe Vita, Anna Mazzeo.   

Abstract

Mutations in the small heat-shock protein HSP27 gene are associated with distal hereditary motor neuropathy and with the axonal form of Charcot-Marie-Tooth disease type 2. We present the clinical and electrophysiological data on a multigenerational family with the p.Arg136Leu HSP27 mutation. Atypical features such as deafness and pyramidal signs were present in our cases adding new data to the large spectrum of HSP27-related phenotype.

Entities:  

Mesh：

Substances：

Year:  2014        PMID： 25547330     DOI： 10.1007/s10072-014-2050-8

Source DB:  PubMed          Journal:  Neurol Sci        ISSN： 1590-1874            Impact factor:   3.307


  10 in total

1.  A novel HSPB1 mutation in an Italian patient with CMT2/dHMN phenotype.

Authors:  M Luigetti; G M Fabrizi; F Madia; M Ferrarini; A Conte; A Del Grande; G Tasca; P A Tonali; M Sabatelli
Journal:  J Neurol Sci       Date:  2010-09-25       Impact factor: 3.181

2.  Severe neuropathy after diphtheria-tetanus-pertussis vaccination in a child carrying a novel frame-shift mutation in the small heat-shock protein 27 gene.

Authors:  Paola Mandich; Marina Grandis; Alessandra Varese; Alessandro Geroldi; Massimo Acquaviva; Paola Ciotti; Rossella Gulli; Laura Doria-Lamba; Gian Maria Fabrizi; Gaia Giribaldi; Antonio Pizzuti; Angelo Schenone; Emilia Bellone
Journal:  J Child Neurol       Date:  2009-05-11       Impact factor: 1.987

3.  The use of Charcot-Marie-Tooth Neuropathy Score.

Authors:  L Padua; A Schenone; C Pazzaglia; D Pareyson
Journal:  Eur J Phys Rehabil Med       Date:  2009-06       Impact factor: 2.874

4.  Mutation analysis of the small heat shock protein 27 gene in chinese patients with Charcot-Marie-Tooth disease.

Authors:  Beisha Tang; Xiaomin Liu; Guohua Zhao; Wei Luo; Kun Xia; Qian Pan; Fang Cai; Zhengmao Hu; Cheng Zhang; Biao Chen; Fufeng Zhang; Lu Shen; Ruxu Zhang; Hong Jiang
Journal:  Arch Neurol       Date:  2005-08

5.  Small heat-shock protein HSPB1 mutants stabilize microtubules in Charcot-Marie-Tooth neuropathy.

Authors:  Leonardo Almeida-Souza; Bob Asselbergh; Constantin d'Ydewalle; Kristof Moonens; Sofie Goethals; Vicky de Winter; Abdelkrim Azmi; Joy Irobi; Jean-Pierre Timmermans; Kris Gevaert; Han Remaut; Ludo Van Den Bosch; Vincent Timmerman; Sophie Janssens
Journal:  J Neurosci       Date:  2011-10-26       Impact factor: 6.167

6.  HSPB1 and HSPB8 in inherited neuropathies: study of an Italian cohort of dHMN and CMT2 patients.

Authors:  Simona Capponi; Alessandro Geroldi; Paola Fossa; Marina Grandis; Paola Ciotti; Rossella Gulli; Angelo Schenone; Paola Mandich; Emilia Bellone
Journal:  J Peripher Nerv Syst       Date:  2011-12       Impact factor: 3.494

7.  Charcot–Marie–Tooth disease type 2J with MPZ Thr124Met mutation: clinico-electrophysiological and MRI study of a family.

Authors:  Elena Gallardo; Antonio García; César Ramón; Elías Maraví; Jon Infante; Itziar Gastón; Ángel Alonso; Onofre Combarros; Peter De Jonghe; José Berciano
Journal:  J Neurol       Date:  2009-12       Impact factor: 4.849

8.  Mutant small heat-shock protein 27 causes axonal Charcot-Marie-Tooth disease and distal hereditary motor neuropathy.

Authors:  Oleg V Evgrafov; Irena Mersiyanova; Joy Irobi; Ludo Van Den Bosch; Ines Dierick; Conrad L Leung; Olga Schagina; Nathalie Verpoorten; Katrien Van Impe; Valeriy Fedotov; Elena Dadali; Michaela Auer-Grumbach; Christian Windpassinger; Klaus Wagner; Zoran Mitrovic; David Hilton-Jones; Kevin Talbot; Jean-Jacques Martin; Natalia Vasserman; Svetlana Tverskaya; Alexander Polyakov; Ronald K H Liem; Jan Gettemans; Wim Robberecht; Peter De Jonghe; Vincent Timmerman
Journal:  Nat Genet       Date:  2004-05-02       Impact factor: 38.330

9.  A novel p.Gln175X [corrected] premature stop mutation in the C-terminal end of HSP27 is a cause of CMT2.

Authors:  Alexander M Rossor; Gabrielle L Davidson; Julian Blake; James M Polke; Sinéad M Murphy; Henry Houlden; Amy Innes; Bernadett Kalmar; Linda Greensmith; Mary M Reilly
Journal:  J Peripher Nerv Syst       Date:  2012-06       Impact factor: 3.494

10.  Mutations in the HSP27 (HSPB1) gene cause dominant, recessive, and sporadic distal HMN/CMT type 2.

Authors:  H Houlden; M Laura; F Wavrant-De Vrièze; J Blake; N Wood; M M Reilly
Journal:  Neurology       Date:  2008-10-01       Impact factor: 9.910
  10 in total
  8 in total

Review 1.  Small heat shock proteins in ageing and age-related diseases.

Authors:  Nikolaos Charmpilas; Emmanouil Kyriakakis; Nektarios Tavernarakis
Journal:  Cell Stress Chaperones       Date:  2017-01-10       Impact factor: 3.667

Review 2.  Mutations in HspB1 and hereditary neuropathies.

Authors:  Lydia K Muranova; Maria V Sudnitsyna; Sergei V Strelkov; Nikolai B Gusev
Journal:  Cell Stress Chaperones       Date:  2020-04-16       Impact factor: 3.667

3.  Early and late manifestations of neuropathy due to HSPB1 mutation in the Jewish Iranian population.

Authors:  Lior Greenbaum; Merav Ben-David; Vera Nikitin; Orna Gera; Ortal Barel; Adi Hersalis-Eldar; Jana Shamash; Noam Shimshoviz; Haike Reznik-Wolf; Mordechai Shohat; Dan Dominissini; Elon Pras; Amir Dori
Journal:  Ann Clin Transl Neurol       Date:  2021-05-11       Impact factor: 4.511

Review 4.  Chaperonopathies: Spotlight on Hereditary Motor Neuropathies.

Authors:  Vincenzo Lupo; Carmen Aguado; Erwin Knecht; Carmen Espinós
Journal:  Front Mol Biosci       Date:  2016-12-14

5.  A novel p.T139M mutation in HSPB1 highlighting the phenotypic spectrum in a family.

Authors:  Jakkrit Amornvit; Mehmet E Yalvac; Lei Chen; Zarife Sahenk
Journal:  Brain Behav       Date:  2017-07-21       Impact factor: 2.708

Review 6.  Small heat shock proteins in neurodegenerative diseases.

Authors:  Leen Vendredy; Elias Adriaenssens; Vincent Timmerman
Journal:  Cell Stress Chaperones       Date:  2020-04-22       Impact factor: 3.667

7.  Charcot-Marie-Tooth disease type 2F associated with biallelic HSPB1 mutations.

Authors:  Elena Abati; Stefania Magri; Megi Meneri; Giulia Manenti; Daniele Velardo; Francesca Balistreri; Chiara Pisciotta; Paola Saveri; Nereo Bresolin; Giacomo Pietro Comi; Dario Ronchi; Davide Pareyson; Franco Taroni; Stefania Corti
Journal:  Ann Clin Transl Neurol       Date:  2021-05-04       Impact factor: 4.511

8.  Rare among Rare: Phenotypes of Uncommon CMT Genotypes.

Authors:  Luca Gentile; Massimo Russo; Federica Taioli; Moreno Ferrarini; M'Hammed Aguennouz; Carmelo Rodolico; Antonio Toscano; Gian Maria Fabrizi; Anna Mazzeo
Journal:  Brain Sci       Date:  2021-12-08
  8 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.