Literature DB >> 24571105

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

A Romagnolo1, S Masera, A Mattioda, G Superti, F M Santorelli, T Mongini, L Pinessi, P Cavalla.   

Abstract

Entities:  

Keywords:  corpus callosum; hereditary spastic paraplegia; magnetic resonance imaging; multiple sclerosis; white matter abnormalities

Mesh：

Substances：

Year:  2014        PMID： 24571105     DOI： 10.1111/ene.12297

Source DB:  PubMed          Journal:  Eur J Neurol        ISSN： 1351-5101            Impact factor:   6.089


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  7 in total

Review 1.  Differential diagnosis of Mendelian and mitochondrial disorders in patients with suspected multiple sclerosis.

Authors:  James D Weisfeld-Adams; Ilana B Katz Sand; Justin M Honce; Fred D Lublin
Journal:  Brain       Date:  2015-01-29       Impact factor: 13.501

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

Authors:  Maria Pia Giannoccaro; Rocco Liguori; Alessia Arnoldi; Vincenzo Donadio; Patrizia Avoni; Maria Teresa Bassi
Journal:  J Neurol       Date:  2014-07-25       Impact factor: 4.849

Review 3.  Delving into the complexity of hereditary spastic paraplegias: how unexpected phenotypes and inheritance modes are revolutionizing their nosology.

Authors:  Christelle Tesson; Jeanette Koht; Giovanni Stevanin
Journal:  Hum Genet       Date:  2015-03-11       Impact factor: 4.132

4.  Novel SPG11 Mutations in a Patient with Symptoms Mimicking Multiple Sclerosis.

Authors:  Masako Mukai; Kishin Koh; Yuko Ohnuki; Eiichiro Nagata; Yoshihisa Takiyama; Shunya Takizawa
Journal:  Intern Med       Date:  2018-06-06       Impact factor: 1.271

5.  Mild cognitive impairment in novel SPG11 mutation-related sporadic hereditary spastic paraplegia with thin corpus callosum: case series.

Authors:  Chuan Li; Qi Yan; Feng-Ju Duan; Chao Zhao; Zhuo Zhang; Ying Du; Wei Zhang
Journal:  BMC Neurol       Date:  2021-01-11       Impact factor: 2.474

Review 6.  An Update on the Hereditary Spastic Paraplegias: New Genes and New Disease Models.

Authors:  Kishore R Kumar; Nicholas F Blair; Carolyn M Sue
Journal:  Mov Disord Clin Pract       Date:  2015-06-02

7.  Genome sequencing uncovers phenocopies in primary progressive multiple sclerosis.

Authors:  Xiaoming Jia; Lohith Madireddy; Stacy Caillier; Adam Santaniello; Federica Esposito; Giancarlo Comi; Olaf Stuve; Yuan Zhou; Bruce Taylor; Trevor Kilpatrick; Filippo Martinelli-Boneschi; Bruce A C Cree; Jorge R Oksenberg; Stephen L Hauser; Sergio E Baranzini
Journal:  Ann Neurol       Date:  2018-07-03       Impact factor: 10.422
  7 in total

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