title: A rare case of SPG11 mutation with multiple sclerosis.
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.
authors.affiliation: Service de neurologie C, hôpital neurologique Pierre-Wertheimer, hospices civils de Lyon, 59, boulevard Pinel, 69677 Bron cedex, France.
authors.forename: C
authors.initials: C
authors.lastname: Laurencin
authors.affiliation: Service de neurologie C, hôpital neurologique Pierre-Wertheimer, hospices civils de Lyon, 59, boulevard Pinel, 69677 Bron cedex, France. Electronic address: lucierascle@gmail.com.
authors.forename: L
authors.initials: L
authors.lastname: Rascle
authors.affiliation: 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.
authors.forename: F
authors.initials: F
authors.lastname: Cotton
authors.affiliation: Service de neurologie A, hôpital neurologique Pierre-Wertheimer, hospices civils de Lyon, 59, boulevard Pinel, 69677 Bron cedex, France.
authors.forename: C
authors.initials: C
authors.lastname: Grosset-Janin
authors.affiliation: CREATIS, UMR5520 & U1044 Inserm, université Claude-Bernard-Lyon 1, 43, boulevard du 11-Novembre-1918, 69100 Villeurbanne, France.
authors.forename: E
authors.initials: E
authors.lastname: Bernard
authors.affiliation: Service de neurogénétique moléculaire et cellulaire, hôpital Pitié-Salpêtrière, 75013 Paris, France.
authors.forename: C
authors.initials: C
authors.lastname: Depienne
authors.affiliation: 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.
authors.forename: S
authors.initials: S
authors.lastname: Vukusic
authors.affiliation: 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.
authors.forename: S
authors.initials: S
authors.lastname: Thobois
mesh_terms: D061605:Administration, Intravenous; D020233:Gait Disorders, Neurologic / Q000150:complications / Q000175:diagnosis / Q000188:drug therapy / Q000235:genetics; D006801:Humans; D008297:Male; D008775:Methylprednisolone / Q000008:administration & dosage; D009103:Multiple Sclerosis / Q000150:complications* / Q000188:drug therapy / Q000235:genetics*; D009154:Mutation; D011506:Proteins / Q000235:genetics*; D015419:Spastic Paraplegia, Hereditary / Q000150:complications* / Q000188:drug therapy / Q000235:genetics; D055815:Young Adult
chemical_list: D011506:Proteins; C520412:SPG11 protein, human; D008775:Methylprednisolone
keywords: Demyelinating disease; Hereditary spastic paraplegia; Multiple sclerosis; SPG1; Spatacsin