Literature DB >> 35937475

Phenotypic Variability with Two Novel Variants in SPG15: Catching the Lynx by its Ears.

Mellany Tuesta Bernaola1, Jacky Ganguly1, Saurabh Bansal1, Mandar Jog1.   

Abstract

Entities:  

Keywords:  SPG15; ears of lynx; spastic ataxia

Year:  2022        PMID： 35937475      PMCID： PMC9346249          DOI： 10.1002/mdc3.13474

Source DB:  PubMed          Journal:  Mov Disord Clin Pract        ISSN： 2330-1619


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  11 in total

1.  SPG15: a cause of juvenile atypical levodopa responsive parkinsonism.

Authors:  Martial Mallaret; Ouhaid Lagha-Boukbiza; Saskia Biskup; Izzie Jacques Namer; Gabrielle Rudolf; Mathieu Anheim; Christine Tranchant
Journal:  J Neurol       Date:  2013-12-24       Impact factor: 4.849

Review 2.  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

3.  Spastic Paraplegia Type 7 and Movement Disorders: Beyond the Spastic Paraplegia.

Authors:  Michel Sáenz-Farret; Anthony E Lang; Lorraine Kalia; Inês Cunha; Mário Sousa; Greg Kuhlman; Christos Ganos; Renato P Munhoz; Alfonso Fasano; Carlos Eduardo Piña-Avilés; Carlos Zúñiga-Ramírez
Journal:  Mov Disord Clin Pract       Date:  2022-04-01

4.  Systematic Analysis of Brain MRI Findings in Adaptor Protein Complex 4-Associated Hereditary Spastic Paraplegia.

Authors:  Darius Ebrahimi-Fakhari; Julian E Alecu; Marvin Ziegler; Gregory Geisel; Catherine Jordan; Angelica D'Amore; Rebecca C Yeh; Shyam K Akula; Afshin Saffari; Sanjay P Prabhu; Mustafa Sahin; Edward Yang
Journal:  Neurology       Date:  2021-09-20       Impact factor: 9.910

5.  "Ears of the lynx" sign in a marchiafava-bignami patient: structural basis and fiber-tracking DTI contribution to the understanding of this imaging abnormality.

Authors:  Felipe Torres Pacheco; Milena Morais Rego; Jose Iram Mendonça do Rego; Antonio J da Rocha
Journal:  J Neuroimaging       Date:  2012-12-06       Impact factor: 2.486

6.  SPG15 is the second most common cause of hereditary spastic paraplegia with thin corpus callosum.

Authors:  C Goizet; A Boukhris; D Maltete; L Guyant-Maréchal; J Truchetto; E Mundwiller; S Hanein; P Jonveaux; F Roelens; J Loureiro; E Godet; S Forlani; J Melki; M Auer-Grumbach; J C Fernandez; P Martin-Hardy; I Sibon; G Sole; I Orignac; C Mhiri; P Coutinho; A Durr; A Brice; G Stevanin
Journal:  Neurology       Date:  2009-10-06       Impact factor: 9.910

7.  Identification of the SPG15 gene, encoding spastizin, as a frequent cause of complicated autosomal-recessive spastic paraplegia, including Kjellin syndrome.

Authors:  Sylvain Hanein; Elodie Martin; Amir Boukhris; Paula Byrne; Cyril Goizet; Abdelmadjid Hamri; Ali Benomar; Alexander Lossos; Paola Denora; José Fernandez; Nizar Elleuch; Sylvie Forlani; Alexandra Durr; Imed Feki; Michael Hutchinson; Filippo M Santorelli; Chokri Mhiri; Alexis Brice; Giovanni Stevanin
Journal:  Am J Hum Genet       Date:  2008-04       Impact factor: 11.025

8.  Lighthouse in the open sea of spastic ataxia; what are the features that should not be missed in SPG11?

Authors:  Sangmin Park; Ah Reum Kim; Nayoung K D Kim; Woong-Yang Park; Ji Sun Kim; Eungseok Oh
Journal:  Parkinsonism Relat Disord       Date:  2021-05-11       Impact factor: 4.891

Review 9.  Hereditary Spastic Paraplegia: An Update.

Authors:  Arun Meyyazhagan; Antonio Orlacchio
Journal:  Int J Mol Sci       Date:  2022-02-01       Impact factor: 5.923

10.  Lysosomal abnormalities in hereditary spastic paraplegia types SPG15 and SPG11.

Authors:  Benoît Renvoisé; Jaerak Chang; Rajat Singh; Sayuri Yonekawa; Edmond J FitzGibbon; Ami Mankodi; Adeline Vanderver; Alice Schindler; Camilo Toro; William A Gahl; Don J Mahuran; Craig Blackstone; Tyler Mark Pierson
Journal:  Ann Clin Transl Neurol       Date:  2014-06-01       Impact factor: 4.511
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