HSPer also found to have MS

Posted - September 2016 in Research Highlights

First description of dual occurrence

 

While SPG11 HSP has previously been associated with multiple sclerosis (MS), it was described as HSP symptoms mimicking MS. In this study, the first description of SPG11 HSP coexisting with MS is made.

 

Abstract

We describe a patient with SPG11 hereditary spastic paraplegia (HSP), who developed a walking disorder in childhood. He presented with three episodes of sub-acute 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.

 

SOURCE: Rev Neurol (Paris). 2016 Jun-Jul;172(6-7):389-91. doi: 10.1016/j.neurol.2016.03.006. Epub 2016 May 11. PMID: 27180005 Copyright © 2016 Elsevier Masson SAS. All rights reserved.

 

A rare case of SPG11 mutation with multiple sclerosis.

 

Laurencin C1, Rascle L2, Cotton F3, Grosset-Janin C4, Bernard E5, Depienne C6, Vukusic S7, Thobois S8.

 

1 Service de neurologie C, hôpital neurologique Pierre-Wertheimer, hospices civils de Lyon, 59, boulevard Pinel, 69677 Bron cedex, France.

2 Service de neurologie C, hôpital neurologique Pierre-Wertheimer, hospices civils de Lyon, 59, boulevard Pinel, 69677 Bron cedex, France. Electronic address: [email protected]

3 Service de radiologie, hôpital Lyon Sud, hospices civils de Lyon, 69677 Bron cedex, France; CREATIS, UMR5520 & U1044 Inserm, université Claude-Bernard-Lyon 1, 43, boulevard du 11-Novembre-1918, 69100 Villeurbanne, France.

4 Service de neurologie A, hôpital neurologique Pierre-Wertheimer, hospices civils de Lyon, 59, boulevard Pinel, 69677 Bron cedex, France.

5 CREATIS, UMR5520 & U1044 Inserm, université Claude-Bernard-Lyon 1, 43, boulevard du 11-Novembre-1918, 69100 Villeurbanne, France.

6 Service de neurogénétique moléculaire et cellulaire, hôpital Pitié-Salpêtrière, 75013 Paris, France.

7 Service de neurologie A, hôpital neurologique Pierre-Wertheimer, hospices civils de Lyon, 59, boulevard Pinel, 69677 Bron cedex, France; Centre des neurosciences de Lyon, Inserm 1028 et CNRS UMR5292, équipe neuro-oncologie et neuro-inflammation, université Claude-Bernard-Lyon I, 43, boulevard du 11-Novembre-1918, 69100 Villeurbanne, France.

8 Service de neurologie C, hôpital neurologique Pierre-Wertheimer, hospices civils de Lyon, 59, boulevard Pinel, 69677 Bron cedex, France; Centre de neurosciences de Lyon, CNRS UMR 5229, 69500 Bron, France; Université Claude-Bernard-Lyon I, 43, boulevard du 11-Novembre-1918, 69100 Villeurbanne, France.

Comments on this story

  1. Lyn posted at 12:26 pm on 3 September 2016Reply

    I too was diagnosed with MS as I had a lesion on my T3 vertebrae. I had 2 neurologists who diagnosed it as remitting MS but they did query it and mentioned HSP. I also had a walking problem. I had 2 MRIs and 2 spinal taps. No one changed my diagnosis until 2005 when I had another MRI, spinal tap and a Niro test to prove I didn’t have MS and sent to a HSP specialist to be tested…with a positive result for HSP.

    I realise awareness has grown in the professional sector. it is very similar to MS. : ❓

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