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Summary Objectives To describe the EEG characteristics of patients with Unverricht-Lundborg disease (ULD) and their changes during the long-term evolution of the disease. Methods A retrospective study including all patients with ULD confirmed by molecular biology and more than 15 years’ duration of disease progression at the time of inclusion. EEGs were recorded at inclusion, 2 years and 5 years of follow-up. Patients who discontinued treatment during follow-up had an EEG monitoring 1 year after reintroduction of therapy. Results Forty-seven EEGs were performed in 17 patients. The mean age at onset was 12.0 ± 5.5 years. The mean duration of follow-up was 26.5 ± 6.9 years. The average background rhythm was 8.2 c/s, and was normal in 30 EEGs (64%), slow in 17 (36%) and disorganized in 11 (23%). Epileptic abnormalities were found in 22 EEGs (47%). Myoclonic jerks were found in 13 EEGs (28%). After re-adaptation of antiepileptic medication in patients who had previously stopped treatment, control EEG showed a normal background rhythm with no epileptic abnormalities throughout the monitoring period. Conclusion This study shows that the progressive disappearance of EEG abnormalities is rather due to antiepileptic treatment than a gradual spontaneous tendency to decrease over time.

Background Few epidemiological data are available on multiple sclerosis (MS) patients in North Africa (NA). Studies of immigrants from NA showed a more aggressive course compared to European patients. Objective The aim of this study is to describe clinical and long term course characteristics of MS in Tunisia and to compare it to European cohorts. Method A total of 437 MS patients from three hospital based cohorts in Tunisia and having prospective follow up between 2010 and 2012 were analyzed. We considered as endpoints the time to reach EDSS scores of 3, 4 and 6 in the different clinical forms of MS and the beginning of a secondary progressive (SP) phase. Results Sex ratio was 2.34. Mean age of onset was 30.3 years. The course was relapsing–remitting (RR) in 91% of patients and primary progressive (PP) in 9%. The most frequent isolated onset symptoms were respectively motor (28%), optic neuritis (20%) and sensory (16%) dysfunction. Median time to SP onset was 19.1 years. Median times from onset of multiple sclerosis to assignment of a score of 3, 4 and 6 were 8, 10.7 and 15 years respectively. Benign form of MS represented 31.5%. Median interval from the onset of the disease to EDSS score of 3, 4 and 6 was shorter in PP-MS than in RR-MS. However, there was no difference between these two groups for the median time from the assignment of EDSS 4 to the assignment EDSS 6. Conclusions Our study shows that Tunisian MS patients have a quite similar clinical feature to European patients. Still, larger MS multicenter cohort studies in NA with longer follow-up duration could clearly respond to the issue.

Resume Introduction Le syndrome du canal carpien (SCC) est le plus repandu des syndromes canalaires du membre superieur. Il est frequent chez les patients hemodialyses. Le role de la fistule arterioveineuse a ete incrimine mais conteste. L’objectif de cette etude etait de confirmer cette relation. Methodes Nous avons realise un examen electroneuromyographique systematique chez tous les patients hemodialyses chroniques par fistule arterioveineuse (FAV) entre janvier 2003 et decembre 2010. Nous avons uniquement inclus, pour cette etude, les patients ayant une FAV unilaterale. Resultats Ainsi, 134/155 patients examines ont ete inclus. Un SCC a ete retrouve chez 106 patients et etait infraclinique dans 42 % des cas. Il etait significativement plus frequent ( p p = 0,08). La survenue du SCC etait, par ailleurs, uniquement correlee a la duree de la dialyse ( p = 0,005). Cette duree etait significativement plus courte chez le diabetique ayant un SCC. Conclusion L’existence d’une correlation positive entre le cote de la FAV et le developpement d’un SCC confirme le role pathogene de cette derniere. Le risque augmente chez ces patients avec la duree de l’hemodialyse et la presence de diabete.

Summary Causative genes for childhood absence epilepsy (CAE) are unknown partly because families are small or phenotypically heterogeneous. In five consanguineous Tunisian families with at least two sibs with CAE, 14 patients fulfilled the diagnostic criteria for CAE (Epilepsia 1989;30:389–399). Linkage analyses or direct sequencing excluded CACNG2, CACNA1A, CACNB4, and CACNA2D2, orthologs of genes responsible for autosomal recessive (AR) absence seizures in mice. These families will help identify (a) gene(s) responsible for CAE.

Background Recent studies on date of birth of multiple sclerosis (MS) patients showed an association between month of birth and the risk of developing MS. This association has not been investigated in an African country. Objective We aimed to determine if the risk of MS is associated with month of birth in Tunisia. Methods Data concerning date of birth for MS patients in Tunisia (n=1912) was obtained. Birth rates of MS patients were compared with all births in Tunisia matched by year of birth (n=11,615,912). We used a chi-squared analysis and the Hewitt's non-parametric test for seasonality. Results The distribution of births among MS patients compared with the control population was not different when tested by the chi-squared test. The Hewitt’s test for seasonality showed an excess of births between May and October among MS patients (p=0.03). The peak of Births of MS patients in Tunisia was in July and the nadir in December. Conclusion Our data does support the seasonality hypothesis of month of birth as risk factor for MS in Tunisia. Low vitamin D levels during pregnancy could be a possible explanation that needs further investigation.

Carpal tunnel syndrome (CTS) is the most frequent entrapment neuropathy reported in patients with renal failure undergoing periodic haemodialysis. The role of arteriovenous fistula was discussed. The aim of this study was to investigate this relationship.Subjects for this study were hemodialysis patients who underwent systematic electroneuromyography between January 2003 and December 2010. Only patients with unilateral fistulae were included for the study.One hundred and thirty-four out of 155 patients were examined. CTS was noted in 106 patients and was detectable only in ENMG in 42% of cases. It was more frequent (P0.001) and more severe in the side of fistulae (P=0.08). Besides, development of CTS was only correlated with the longer duration of dialysis (P=0.005). This duration was significantly shorter in patients with CTS and diabetes.The positive correlation between CTS and aretriovenous fistulae confirms the pathogenic role of this latter. The risk rises in these patients with the duration of hemodialysis and the presence of diabetes.

Hot water epilepsy (HWE) refers to a specific type of reflex epilepsy precipitated by the stimulus of bathing in hot water. Pathogenesis is still unknown and temporal lobe has been thought to take part in the epileptogenesis. HWE can be symptomatic of focal cortical malformation, and few cases were reported. This is the third report of HEW in which a parietal malformation has been observed. Our hypothesis that sensory cortex might be implicated in the epileptogenic process is corroborated by two previous reports on patients with HWE and malformation of the parietal cortical development.

Introduction Few epidemiological data on multiple sclerosis (MS) patients are available in North Africa (NA). Studies of immigrants from NA showed a more aggressive course of MS in NA than in European patients. Objective To describe clinical, long term course characteristics and prognostic factors of MS in a Tunisian population. Methods We performed a prospective multicentric study of 437 MS patients in Tunisia between 2010 and 2012. We considered as endpoints the time to reach non-reversible disability levels corresponding to EDSS scores of 3.0, 4.0 and 6.0, and the beginning of a secondary progressive phase. We used Kaplan–Meier analyses and Cox regression models to determine the influence of the clinical variables on the time to disability onset. Results Sex ratio was 2.34. Mean age of onset was 30.3±9.5 years and the duration of illness was 8.4±6.7 years. The course was relapsing-remitting (RR) in 77% of patients, secondary progressive (SP) in 15.5% and primary progressive (PP) in 8.5%. Median time to secondary progressive onset was 19.1 years. Median times from onset of multiple sclerosis to assignment of a score of 3, 4 and 6 were 8, 10.7 and 15 years respectively. A greater number of functional systems involved at onset, progressive from as well as late age, motor, cerebellar and sphincter symptoms at onset were factors predictive of a poor outcome. A longer first inter-attack interval was associated with a better prognosis. Once EDSS 4 was reached, the time course of progressive disability was similar in patients with progressive onset and those with RR MS. Conclusion This is the first multicentric study in our country. The present study showed a similar course of MS in a North African population compared to European cohorts. Similar long term prognosis factors were found.

Causative genes for childhood absence epilepsy (CAE) are unknown partly because families are small or phenotypically heterogeneous. In five consanguineous Tunisian families with at least two sibs with CAE, 14 patients fulfilled the diagnostic criteria for CAE (Epilepsia 1989; 30:389-399). Linkage analyses or direct sequencing excluded CACNG2, CACNA1A, CACNB4, and CACNA2D2, orthologs of genes responsible for autosomal recessive (AR) absence seizures in mice. These families will help identify (a) gene(s) responsible for CAE.

Posterior reversible encephalopathy (PRE) is a recent syndrome characterized by headache, vomiting, seizures, visual loss, altered mental status with or without motor or sensitive deficit. Neuroimaging demonstrates symmetrical posterior cortical and subcortical lesions. The aetiology remains uncertain but vascular hypotheses is the most retained. We report a case of a 21 year old man with posterior cerebral encephalopathy, the toxic hypo these remains the most probable.

Objective: To identify the demographic characteristics and the etiologic causes of early onset dementia in Tunisian patients. Background Early-onset dementia is defined as dementia occurring before age 65 years. Its prevalence was estimated to 54/100.000H. It has some clinical and etiologic characterizes. Design/Methods: we conducted a retrospective study in the department of Neurology of Razi hospital (Tunisia) over a 9 years period (July 2002-September 2011). Were included demented patients in whom cognitive decline occurred before 65 years. A comprehensive methodology was used to attempt to establish a specific cause. Results: The study identified 360 cases of early onset dementia among 1325 demented patients, giving a frequency of 27.16% of dementias cases. 55 not investigated patients were excluded. Male to female ratio was 1.10. Mean age at onset was 55 years and mean age at presentation was 58.6 years. Etiologies varied with neurodegenerative causes accounting for 60.32% of the cohort. Alzheimer9s disease was frequent (39.67%). Vascular dementia accounted for 15.40%. Metabolic causes accounted for 2.29% and inflammatory causes accounted for 2.29%. At last follow-up, 13 patients (4.26%) had an unknown etiology. Conclusions: Dementia in people under the age of 65 years is uncommon when compared to the prevalence in older people. We report one of the largest cohorts of early onset dementia. It includes a broad variety of etiologies, with few patients having a potentially treatable disorder. Neurodegenerative causes and especially Alzheimer9s disease are frequent but considerably less common than in elderly people. The devastating consequences and financial loss for the patient9s family as well as society, emphasizes the importance of developing strategies for diagnosis and management of younger patients in our country. Disclosure: Dr. Belhouane has nothing to disclose. Dr. Ben Djebara has nothing to disclose. Dr. Hizem has nothing to disclose. Dr. Gargouri has nothing to disclose. Dr. Gouider has nothing to disclose.

Objective: To investigate recessive forms in a Tunisian population with a high consanguinity rate. Background Charcot Marie Tooth disease (CMT) is the most frequent hereditary peripheral neuropathy. Autosomal Recessive forms of CMT are known to be the least common forms worldwise. Design/Methods: Among the prospective cohort on CMT of the Razi hospital - Tunisia, we included patients with recessive inheritance. All patients had clinical examination and were assessed by the Overall Neuropathy Limitations Scale (ONLS) and CMT neuropathy scale (CMTNS). ENMG study and genetic testing were also performed in all cases. Results: 33/70 patients belonging to 16 families were included, with a sex ratio of 0,6. Consanguinity was found in 94% of cases. Mean age of patient was 20,8 years. Mean age of onset was 3,7 years. Walking symptoms were observed in 56,7%. Amyotrophy was detected in 81,8 %. Weakness was found in 69,7% in upper limbs and in 87,9% in lower limbs. ONLS score was at 4,7 and CMT score at 12,2%. Axonal neuropathy was found in 48,5% and demyelinating (CMT4) in 51,5%. Axonal polyneuropathy was more frequently associated to early onset in 90.9% (p Conclusions: We presented a large serie of recessive forms of CMT. In fact, they represented 47% of all cases because of the high rate of consanguinity in our region. Comparatively with dominant forms, AR ones were caracterised by an earlier onset, more severe clinical features with important amyotrophy and handicap. Disclosure: Dr. Kacem has nothing to disclose. Dr. Gargouri has nothing to disclose. Dr. Ben Djebara has nothing to disclose. Dr. Hizem has nothing to disclose. Dr. Gouider has nothing to disclose. Dr. Leguern has nothing to disclose.