A rare case of SPG11 mutation with multiple sclerosis
| العنوان: | A rare case of SPG11 mutation with multiple sclerosis |
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| المؤلفون: | C. Grosset-Janin, Sandra Vukusic, François Cotton, C. Depienne, Chloé Laurencin, Stéphane Thobois, Emilien Bernard, L. Rascle |
| المساهمون: | RMN et optique : De la mesure au biomarqueur, Centre de Recherche en Acquisition et Traitement de l'Image pour la Santé (CREATIS), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Institut National des Sciences Appliquées de Lyon (INSA Lyon), Université de Lyon-Institut National des Sciences Appliquées (INSA)-Institut National des Sciences Appliquées (INSA)-Hospices Civils de Lyon (HCL)-Université Jean Monnet [Saint-Étienne] (UJM)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Institut National des Sciences Appliquées (INSA)-Institut National des Sciences Appliquées (INSA)-Hospices Civils de Lyon (HCL)-Université Jean Monnet [Saint-Étienne] (UJM)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Hospices Civils de Lyon (HCL), Service d'Electroneuromyographie et Service de Neurologie C [Hôpital Pierre Wertheimer - HCL], Hôpital neurologique et neurochirurgical Pierre Wertheimer [CHU - HCL], Hospices Civils de Lyon (HCL)-Hospices Civils de Lyon (HCL), Université de Lyon |
| المصدر: | Revue Neurologique Revue Neurologique, Elsevier Masson, 2016, 172 (6-7), pp.389--391 |
| بيانات النشر: | Elsevier BV, 2016. |
| سنة النشر: | 2016 |
| مصطلحات موضوعية: | Male, 0301 basic medicine, medicine.medical_specialty, Pathology, Multiple Sclerosis, [SDV.IB.IMA]Life Sciences [q-bio]/Bioengineering/Imaging, Hereditary spastic paraplegia, Spinal mri, medicine.disease_cause, Methylprednisolone, Young Adult, 03 medical and health sciences, 0302 clinical medicine, Rare case, medicine, Demyelinating disease, Humans, ComputingMilieux_MISCELLANEOUS, Gait Disorders, Neurologic, Mutation, Intravenous methylprednisolone, Spastic Paraplegia, Hereditary, business.industry, Multiple sclerosis, Proteins, medicine.disease, Surgery, 030104 developmental biology, Neurology, Csf analysis, Administration, Intravenous, Neurology (clinical), business, 030217 neurology & neurosurgery |
| الوصف: | 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. |
| تدمد: | 0035-3787 |
| الوصول الحر: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f16c42071a5260a4cd66c4b0fe9c4647Test https://doi.org/10.1016/j.neurol.2016.03.006Test |
| حقوق: | CLOSED |
| رقم الانضمام: | edsair.doi.dedup.....f16c42071a5260a4cd66c4b0fe9c4647 |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 00353787 |
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