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Hereditary spastic paraplegias (HSP) are a clinically and genetically heterogeneous group of neurodegenerative disorders characterized by slowly progressive spasticity of the lower limbs. The locus designated spastic paraplegia 15 (SPG15), located in a 16-Mb interval on chromosome 14q, is associated with a rare autosomal recessive complicated form of HSP known as Kjellin's syndrome. In this study, we describe three additional families, of Tunisian origin, linked to the SPG15 locus, one of which had a significant multipoint LOD score of 3.46. In accordance with previous reports, the phenotype of our patients consisted of early onset spastic paraparesis associated with mental impairment and severe progression. Retinal degeneration was not observed, however, but we extended the phenotype of this form to include peripheral neuropathy and white matter abnormalities on MRI. Interestingly, like retinal degeneration, thin corpus callosum is not a constant feature in this entity.

WCN 2013 No: 2196 Topic: 6 — MS & Demyelinating Diseases Atypical neurological presentation of GSS: Case report O.H. Daoud, O. Hdiji, I. Bouchhima, E. Turki, A. Boukhris, M. Damak, M.I. Miladi, I. Feki, C. Mhiri. Habib Bourguiba Hospital, Sfax's Medecine University, Sfax, Tunisia Introduction: Gougerot-Sjogren Syndrome (GSS) is an auto-immune exocrinopathy characterized by xerophthalmia and xerostomia. Neurological complications occur between 8.5 and 70%. Data concerning central nervous system (CNS) symptoms have been rarely described. We analyze the clinical, radiological and therapeutic aspects of a patient with CNS signs revealing primitive GSS and we discuss some particularities. Case report: A 52-year-old woman was hospitalized for recurrent clinical focal signs of CNS involvement. It consisted on sudden left hemiparesis on 2009 and two sudden regressed episodes of aphasia on 2011 and 2013. Brain MRI revealed micro nodular lesions appearing as hyper-signal in T2 on periventricular white matter and frontal cortex. Both lacrymal and salivary gland secretions were affected. A high level of antinuclear antibodies to SSA was associated with inflammatory lesions in minor salivary glands biopsy. The diagnosis of GSS was established. An oral corticosteroid therapy (1 mg/kg/day) was prescribed during 6 weeks followed by progressive degression, with good outcome. Discussion: CNS damages are less frequently associated with GSS's systemic damages, and are often inaugural. The pathophysiology remains unknown. Some authors suggest the pathologic role of the anti-SSA based on their higher frequency in patients with CNS manifestation. Neurological focal manifestations are the most observed, but deficit signs are polymorphic. Aphasia is rarely described. The onset may be sudden as stroke. The MRI can reveal T2 hyperintensities on periventricular white matter or juxtacortical, more rarely on the cerebral cortex. Treatment of GSS's neurological manifestations is usually based an oral corticosteroid with high dose. doi:10.1016/j.jns.2013.07.1398 Abstract — WCN 2013 No: 2001 Topic: 6 — MS & Demyelinating Diseases Onset of secondary progression and long-term prognosis in multiple sclerosis A. Scalfari, A. Neuhaus, M. Daumer, P. Muraro, G. Ebers. Centre of Neuroscience, Department of Medicine, Imperial College, London, UK; Sylvia Lawry Centre, Munich, Germany; Oxford University, Oxford, UK Background: Prognosis in multiple sclerosis (MS) remains largely unpredictable. Objectives and methods: Among 806 relapsing-remitting (RR) patients from the London Ontario database, we assessed: 1) the effect of baseline features on the risk of secondary progression (SP); 2) the risk of becoming disabled (DSS 6–8) according to latency to SP. Results: Longer latency to SP predicted lower risk of reaching DSS 6 (OR= 0.76 for 5 years and OR= 0.44 for 15 years of latency); same results were observed in patients matched for early (year-1 + year-2) relapses number. However, RR phase duration did not influence SP evolution. The latency to SP conversely related to the number of total relapses (1–2 = 8.8 years; 3–4 = 11.3 years; ≥5 = 12.2 years). Predictors of the risk of SP were male sex (HR= 1.41), older age at onset (age N 30years vs ≤20years, 21–30years HR= 0.52, 0.65, respectively) and high early relapse frequency (≥3 vs 1, 2 attacks HR= 0.63, 0.75, respectively). Disease duration affected the probability of becoming SP (OR= 1.07), increasing by 9% every 5 years. At baseline, OR for risk of SP yielded by 3 relapses were 3.6, 5.8, 9.5 in patients aged 20, 30 or 40 at onset respectively, and increased by 2-fold at 10 years (OR 7.5, 12.1, 19.8, respectively) and by 5-fold at 20 years (OR 15.6, 25.5, 41.4, respectively). Conclusions: Prevention/delay of SP represents a potential therapeutic target. Early relapse number and age at onset can be used for selecting groups at higher risk of developing severe disability and requiring more aggressive treatments. doi:10.1016/j.jns.2013.07.1399 Abstract — WCN 2013 No: 2105 Topic: 6 — MS & Demyelinating Diseases Pediatric and adult multiple sclerosis — Comparison of magnetic resonance imaging characteristics at disease onset WCN 2013 No: 2105 Topic: 6 — MS & Demyelinating Diseases Pediatric and adult multiple sclerosis — Comparison of magnetic resonance imaging characteristics at disease onset R.-I. Milos, M. Szimacsek, M. Pritsch, J. Penzien, M. Karenfort, A. Blaschek, R. Seidl, K. Rostasy, A. Bayas, K. Storm van's Gravesande, M. Weber, D. Prayer, B. Kornek. Department of Radiology, Medical University Vienna, Vienna, Austria; DRK-Children’s Hospital Siegen, Siegen, Germany; Children’s Hospital Klinikum Augsburg, Augsburg, Germany; Department of General Pediatrics, Pediatric Neurology, Heinrich Heine University, Dusseldorf, Germany; Department of Pediatric Neurology and Developmental Medicine, Dr. von Hauner's Children's Hospital, Ludwig-Maximilians University, Munich, Germany; Department of Pediatrics, Medical University of Vienna, Vienna, Austria; Department of Pediatrics IV, Division of Pediatric Neurology, InnsbruckMedical University, Innsbruck, Austria; Department of Neurology, Klinikum Augsburg, Augsburg, Germany; Gottfried von Preyer Children Hospital, Medical University of Vienna, Vienna, Austria; Department of Neurology, Medical University of Vienna, Vienna, Austria Background: Only few studies have compared MRI findings at disease onset between patients with pediatric(POMS) and adultonset multiple sclerosis (AOMS). Abstracts / Journal of the Neurological Sciences 333 (2013) e358–e421 e385

Introduction La tuberculose du systeme nerveux central (SNC) demeure un probleme de sante publique en Tunisie. Les tuberculomes intraduraux extramedullaires (TIDEM) sont exceptionnels. Seuls quelques cas ont ete rapportes. Observations Une femme de 26 ans etait suivie au service de Neurologie de Sfax depuis 2004 pour une meningo-encephalo-radiculite d’origine tuberculeuse sous traitement antituberculeux. Un an plus tard, elle a presente d’une facon insidieuse une lourdeur et des paresthesies des membres inferieurs avec des troubles sphincteriens. L’examen neurologique a montre une paraplegie spastique et un niveau sensitif T11. L’IRM medullaire a montre la presence d’une lesion ovalaire intradurale extramedullaire, en hyposignal T1 et T2 au niveau de L1. Apres injection de Gadolinium, il y avait une prise de contraste peripherique en cocarde. Cette lesion refoulait le cone terminal et s’associe a une epidurite dorsale. Il n’existait pas d’immunodepression et la serologie HIV etait negative. Le traitement chirurgical consistait en une laminectomie D10-L2, evidement d’une masse kystique en regard de la queue-de-cheval renfermant un liquide epais, jaunâtre rappelant le caseum. Il existait aussi une arachnoidite etendue sur une hauteur de 10 cm adherente a la moelle dorsale. L’examen anatomopathologique de la piece operatoire etait en faveur d’une necrose caseeuse et avait confirme l’origine tuberculeuse. L’evolution s’est faite vers l’amelioration partielle. Discussion L’atteinte du SNC s’observe dans 10 % des cas de tuberculose. La meningite tuberculeuse represente la forme la plus frequente. Les TIDEM sont exceptionnels. Seuls 25 cas ont ete rapportes dans la litterature. Le debut est insidieux et progressif. L’IRM medullaire est la methode diagnostique de choix. L’association d’une resection chirurgicale a un traitement anti tuberculeux de longue duree permet une bonne recuperation motrice. Conclusion Bien qu’exceptionnel, le TIDEM doit etre evoque en presence d’un syndrome medullaire, chez un sujet jeune surtout dans les pays endemiques, en cas de contage tuberculeux ou en cas d’antecedents de meningite tuberculeuse.