Literature DB >> 27180005

A rare case of SPG11 mutation with multiple sclerosis.

C Laurencin1, L Rascle2, F Cotton3, C Grosset-Janin4, E Bernard5, C Depienne6, S Vukusic7, S Thobois8.   

Abstract

We describe a patient with SPG11 hereditary spastic paraplegia (HSP), who developed walking disorder in childhood. He presented three episodes of subacute gait disorders worsening between the age of 20 and 22 years. Brain and spinal MRI revealed multiple T2 hypersignal lesions, consistent with inflammatory lesions. Surprisingly, CSF analysis showed neither oligoclonal bands nor increased IgG index. He was dramatically improved by intravenous methylprednisolone. A relapsing-remitting multiple sclerosis (MS) was suspected. This is the first description of SPG11 HSP associated with MS.
Copyright © 2016 Elsevier Masson SAS. All rights reserved.

Entities:  

Keywords:  Demyelinating disease; Hereditary spastic paraplegia; Multiple sclerosis; SPG1; Spatacsin

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Year:  2016        PMID: 27180005     DOI: 10.1016/j.neurol.2016.03.006

Source DB:  PubMed          Journal:  Rev Neurol (Paris)        ISSN: 0035-3787            Impact factor:   2.607


  2 in total

1.  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

2.  Novel SPG4 Mutation in a Patient with Sporadic Hereditary Spastic Paraplegia and Elevated Cerebrospinal Fluid Protein.

Authors:  Hongda She; Xin Zheng; Yingxiu Xiao; Frank Mastaglia; Anthony Akkari; Jingshan Wu
Journal:  J Clin Neurol       Date:  2021-01       Impact factor: 3.077

  2 in total

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