A rare case of SPG11 mutation with multiple sclerosis.

Rev Neurol (Paris)

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.

Published: May 2017

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.

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.neurol.2016.03.006DOI Listing

Publication Analysis

Top Keywords

multiple sclerosis
8
rare case
4
case spg11
4
spg11 mutation
4
mutation multiple
4
sclerosis describe
4
describe patient
4
patient spg11
4
spg11 hereditary
4
hereditary spastic
4

Similar Publications

Want AI Summaries of new PubMed Abstracts delivered to your In-box?

Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!