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A rare case of SPG11 mutation with multiple sclerosis

LAURENCIN C; RASCLE L; COTTON F; GROSSET JANIN C; BERNARD E; DEPIENNE C; VUKUSIC S; THOBOIS S
REV NEUROL (Paris) , 2016, vol. 172, n° 6-7, p. 389-391
Doc n°: 179478
Localisation : Documentation IRR

D.O.I. : http://dx.doi.org/DOI:10.1016/j.neurol.2016.03.006
Descripteurs : AE3 - SEP

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.
CI - Copyright (c) 2016 Elsevier Masson SAS. All rights reserved.

Langue : ANGLAIS

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