Literature DB >> 25059394

Atypical late-onset hereditary spastic paraplegia with thin corpus callosum due to novel compound heterozygous mutations in the SPG11 gene.

Maria Pia Giannoccaro1, Rocco Liguori, Alessia Arnoldi, Vincenzo Donadio, Patrizia Avoni, Maria Teresa Bassi.   

Abstract

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Year:  2014        PMID： 25059394     DOI： 10.1007/s00415-014-7443-3

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


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  5 in total

1.  Atypical hereditary spastic paraplegia with thin corpus callosum in a Korean patient with a novel SPG11 mutation.

Authors:  W T Yoon; W Y Lee; S-T Lee; J Y Ahn; C-S Ki; J W Cho
Journal:  Eur J Neurol       Date:  2012-01       Impact factor: 6.089

2.  Atypical hereditary spastic paraplegia mimicking multiple sclerosis associated with a novel SPG11 mutation.

Authors:  A Romagnolo; S Masera; A Mattioda; G Superti; F M Santorelli; T Mongini; L Pinessi; P Cavalla
Journal:  Eur J Neurol       Date:  2014-02       Impact factor: 6.089

3.  Forceps minor region signal abnormality "ears of the lynx": an early MRI finding in spastic paraparesis with thin corpus callosum and mutations in the spatacsin gene (SPG11) on chromosome 15.

Authors:  M Riverol; L Samaranch; B Pascual; P Pastor; J Irigoyen; M A Pastor; P de Castro; J C Masdeu
Journal:  J Neuroimaging       Date:  2008-11-21       Impact factor: 2.486

4.  Autosomal recessive hereditary spastic paraplegia with thin corpus callosum: a novel mutation in the SPG11 gene and further evidence for genetic heterogeneity.

Authors:  T Pippucci; E Panza; E Pompilii; V Donadio; A Borreca; C Babalini; C Patrono; R Zuntini; T Kawarai; G Bernardi; R Liguori; G Romeo; P Montagna; A Orlacchio; M Seri
Journal:  Eur J Neurol       Date:  2009-01       Impact factor: 6.089

5.  Mutations in SPG11 are frequent in autosomal recessive spastic paraplegia with thin corpus callosum, cognitive decline and lower motor neuron degeneration.

Authors:  Giovanni Stevanin; Hamid Azzedine; Paola Denora; Amir Boukhris; Meriem Tazir; Alexander Lossos; Alberto Luis Rosa; Israela Lerer; Abdelmadjid Hamri; Paulo Alegria; José Loureiro; Masayoshi Tada; Didier Hannequin; Mathieu Anheim; Cyril Goizet; Victoria Gonzalez-Martinez; Isabelle Le Ber; Sylvie Forlani; Kiyoshi Iwabuchi; Vardiela Meiner; Goekhan Uyanik; Anne Kjersti Erichsen; Imed Feki; Florence Pasquier; Soreya Belarbi; Vitor T Cruz; Christel Depienne; Jeremy Truchetto; Guillaume Garrigues; Chantal Tallaksen; Christine Tranchant; Masatoyo Nishizawa; José Vale; Paula Coutinho; Filippo M Santorelli; Chokri Mhiri; Alexis Brice; Alexandra Durr
Journal:  Brain       Date:  2007-12-13       Impact factor: 13.501
  5 in total
  6 in total

1.  Hereditary spastic paraplegia type 11 with a very late onset.

Authors:  Anna Rubegni; Eugenia Storti; Alessandra Tessa; Antonio Federico; Filippo M Santorelli
Journal:  J Neurol       Date:  2015-07-17       Impact factor: 4.849

2.  "Ears of the Lynx" MRI Sign Is Associated with SPG11 and SPG15 Hereditary Spastic Paraplegia.

Authors:  B Pascual; S T de Bot; M R Daniels; M C França; C Toro; M Riverol; P Hedera; M T Bassi; N Bresolin; B P van de Warrenburg; B Kremer; J Nicolai; P Charles; J Xu; S Singh; N J Patronas; S H Fung; M D Gregory; J C Masdeu
Journal:  AJNR Am J Neuroradiol       Date:  2019-01-03       Impact factor: 3.825

3.  ZFYVE26/SPASTIZIN and SPG11/SPATACSIN mutations in hereditary spastic paraplegia types AR-SPG15 and AR-SPG11 have different effects on autophagy and endocytosis.

Authors:  Chiara Vantaggiato; Elena Panzeri; Marianna Castelli; Andrea Citterio; Alessia Arnoldi; Filippo Maria Santorelli; Rocco Liguori; Marina Scarlato; Olimpia Musumeci; Antonio Toscano; Emilio Clementi; Maria Teresa Bassi
Journal:  Autophagy       Date:  2018-09-13       Impact factor: 16.016

Review 4.  Genetic modifiers and non-Mendelian aspects of CMT.

Authors:  Dana M Bis-Brewer; Sarah Fazal; Stephan Züchner
Journal:  Brain Res       Date:  2019-09-13       Impact factor: 3.252

5.  A case of spastic paraplegia type 11 mimicking a GM2-gangliosidosis.

Authors:  Diego Lopergolo; Gianna Berti; Francesca Mari; Enrico Bertini; Alessandra Rufa; Carla Battisti; Francesco Sicurelli; Alessandra Renieri; Antonio Federico; Konrad Sandhoff; Alessandro Malandrini
Journal:  Neurol Sci       Date:  2022-01-23       Impact factor: 3.307

Review 6.  Perspectives on the Genomics of HSP Beyond Mendelian Inheritance.

Authors:  Dana M Bis-Brewer; Stephan Züchner
Journal:  Front Neurol       Date:  2018-11-26       Impact factor: 4.003
  6 in total

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