Antinuclear antibodies positivity is not rare during multiple sclerosis and is associated with relapsing status and IgG oligoclonal bands positivity.

INTRODUCTION: As an immune-mediated disease of the central nervous system, multifaceted aspects of a humoral immune response are widely described during multiple sclerosis (MS). However, the prevalence of different auto-antibodies, such as antinuclear antibodies (ANA), during MS is very variable and their clinical relevance remains controversial. Our aim was to evaluate the prevalence and clinical correlations of ANA positivity in South Tunisian MS patients. MATERIAL AND METHODS: We performed ANA screening using indirect immunofluorescence (IIF) on HEp-2 cells (Biosystems®) in 82 MS patients. For ANA positive samples (titer ≥1/160), anti-ds-DNA detection (IIF on Crithidia luciliae (Biosystems®)) and extractable nuclear antigen typing (immunodot (Euroimmun®)) were performed. RESULTS: ANA were positive in 35/82 MS patients (42.7%). The titer was ≥1/320 in 16/35 patients. The antigenic specificity of ANA was identified in 7/35 patients. None of the patients had extra-neurological manifestations. No correlation was found between ANA and age, gender, MS course, disease duration, disability, annual relapse rate nor IgG index. ANA positivity was more frequent in patients with IgG oligoclonal bands (OCB) (47.1%) than in patients without IgG OCB (16,6%) (p=0.049). Regarding disease activity, ANA positivity was significantly more frequent in patients with relapse (52.6%) than in patients in remission (25.9%) (p=0.031). CONCLUSION: Our results showed that ANA positivity in MS disease is not rare. This positivity was not associated with clinical expression of any connective tissue disease. ANA occurrence in MS was associated with IgG OCB+ profile and relapsing status, probably reflecting an ongoing immune dysregulation.

Neuromyelitis optica spectrum disorders in South of Tunisia: A rare entity with low seroprevalence of anti-aquaporin 4 autoantibodies.

INTRODUCTION: Screening for anti-aquaporin 4 (anti-AQP4) antibodies, a specific marker of neuromyelitis optica spectrum disorders (NMOSD), is part of the immunological investigation performed in a context of central nervous system (CNS) inflammation with optic neuritis and/or myelitis. The aim of our study was to evaluate the prevalence and the diagnostic value of anti-AQP4 antibodies in Tunisian patients with such inflammatory neurological conditions. METHODS: During 3years, 170 consecutive serum samples of Tunisian patients with CNS inflammatory disorders and optico-spinal involvement were tested in our laboratory for anti-AQP4 antibodies using indirect immunofluorescence on transfected cells. RESULTS: The global seroprevalence of anti-AQP4 in our study was 4.1% (7 cases/170). The diagnosis of NMOSD was made for the 7 seropositive patients and for 2 seronegative patients, which leads to a seroprevalence of 77.7% in our NMOSD subgroup. The detection of anti-AQP4 allowed the diagnosis of NMOSD in 4 patients with incomplete clinical presentation and 5 patients with positive antinuclear antibodies. In one case, seropositivity was detected in a second sample, one year after an initial seronegativity. CONCLUSION: NMOSD seem to represent a rare etiology of optic neuritis and/or myelitis in Tunisian patients. Despite its low global seroprevalence in our study population, anti-AQP4 appears to be a very clinically relevant marker for NMOSD diagnosis. Repeating the screening in case of initial negativity could be interesting in clinical practice.

[Impact of physical disability and concomitant emotional disturbances on post-stroke quality of life]. / Impact du handicap physique et des troubles émotionnels concomitants sur la qualité de vie en post-AVC.

INTRODUCTION: The physical and/or psycho-cognitive changes after stroke may lead to a decline in the quality of life (QOL) of patients. The aims of our study were to evaluate the QOL of stroke survivors and to investigate its relationships with the physical disability degree and the emotional disorders (anxiety and depression). METHODS: We conducted a cross-sectional study, which included 147 patients, followed for stroke that had occurred over the past year, in the outpatient neurology department at the university hospital Habib Bourguiba of Sfax (Tunisia). For each patient, we collected socio-demographic characteristics and clinical and therapeutic data. The quality of life of our patients was assessed using the SF-36 scale. The HAD scale was used to screen for anxiety and depression, whereas the modified Rankin scale was used to measure the degree of disability. RESULTS: The average age of our patients was 60.58 years. The overall mean score of the SF-36 ranged from 20.81 to 89.81 with an average of 55.27. Impaired QOL was found in 68% of patients. The study of the dimensional average scores revealed that only two dimensions of the SF-36 were not altered: physical pain and life and relationship with others. The physical component was slightly more altered than the mental component (41.4 and 42.9 respectively). A minimal disability was found in 32% of patients, while a moderate and severe disability was found in 19% and 21.1% of patients. Anxiety was detected in 55.1% of patients and depression in 67.3% of them. Impaired mental component QOL was significantly correlated with the presence of anxiety (P=0.008) and depression (P<<0.05). The severe degree of disability had a significant negative impact on all areas of QOL except that of life and relationships with others. CONCLUSION: It appears from our study that among the important effects of stroke is the constant deterioration of QOL in its various dimensions. The occurrence of emotional disturbances such as anxiety and depression and the degree of physical disability seem to be predictors of QOL impairment. Therefore, special attention should be given to such patients at higher risk of decline in their QOL.

[Paraneoplastic cerebellar degeneration as the presenting manifestation of breast carcinoma: a case report]. / Dégénérescence cérébelleuse paranéoplasique révélant un cancer du sein : à propos d'un cas.

INTRODUCTION: Paraneoplastic cerebellar degeneration may be a manifestation indicative of lung, gynecological or breast cancer. Nevertheless, breast cancer is rarely revealed by the occurrence of a paraneoplastic syndrome. CASE REPORT: We report a 38-year-old patient who presented a paraneoplastic cerebellar degeneration with anti-Yo antibodies as the presenting manifestation of a breast cancer. CONCLUSION: The diagnosis of a paraneoplastic neurological syndrome (PNS) should lead to urgent and comprehensive screening for cancer oriented by the type of PNS and the nature of the anti-neuronal antibody.

Relationship between muscular strength, gait and postural parameters in multiple sclerosis.

OBJECTIVE: To evaluate muscle strength, balance control and gait capacity in patients with multiple sclerosis (MS) and to study the correlations between these parameters. PATIENTS AND METHODS: Twenty MS patients were evaluated in terms of knee muscle strength, gait and balance parameters. These evaluations were performed using an isokinetic dynamometer (the Cybex II(®)), a Bessou gait analyzer and a Satel(®) force platform, respectively. The patients' results were compared with those of a healthy control group. RESULTS: Hamstring and quadriceps peak torque values were lower in the MS group than in the control group. The sway area was greater in the MS group under eyes-open and eyes-closed conditions. The MS patients displayed lower gait speed, cadence and stride length. Hamstring and quadriceps strength values were significantly correlated with posture and gait parameters. CONCLUSION: The present study revealed the value of an overall evaluation of knee muscle strength, gait and posture in MS patients.

[Multiple arterial thrombosis in Behçet's disease]. / Thromboses artérielles multiples au cours de la maladie de Behçet.

Behcet's disease (BD) is a multisystemic vasculitis. Its etiopathogeny remains unknown. Vascular involvement in BD is frequent and venous thrombosis is the most common manifestation (30% of cases). Arterial involvement is rare (2.7 to 7%). The latter is often severe and considered as a life threatening complication. Pathogenesis of thrombosis occurring in BD remains unclear. We report a 45-year-old man, from south of Tunisia, who presented a BD with a bifocal arterial involvement: right internal carotid thrombosis and bilateral proximal thrombosis of the two pulmonary arteries. Therapeutic strategies to address this multiple arterial involvement and the pathogenesis of thrombosis raise many questions.

Mobilization of retrotransposons in synthetic allotetraploid tobacco.

Allopolyploidy is a major driving force in plant evolution and can induce rapid structural changes in the hybrid genome. As major components of plant genomes, transposable elements are involved in these changes. In a previous work, we observed turnover of retrotransposon insertions in natural allotretraploid tobacco (Nicotiana tabacum). Here, we studied the early stages of allopolyploid formation by monitoring changes at retrotransposon insertion sites in the Th37 synthetic tobacco. We used sequence-specific amplification polymorphism (SSAP) to study insertion patterns of two populations of the Tnt1 retrotransposon in Th37 S4 generation plants, and characterized the nature of polymorphic insertion sites. We observed significant amplification of young Tnt1 populations. Newly transposed copies were amplified from maternal elements and were highly similar to Tnt1A tobacco copies amplified in response to microbial factors. A high proportion of paternal SSAP bands were not transmitted to the hybrid, corresponding to various rearrangements at paternal insertion sites, including indels or the complete loss of the Tnt1/flanking junction. These data indicate that major changes, such as retrotransposon amplification and molecular restructuring in or around insertion sites, occur rapidly in response to allopolyploidy.

SPG15 is the second most common cause of hereditary spastic paraplegia with thin corpus callosum.

OBJECTIVE: Hereditary spastic paraplegias (HSPs) are very heterogeneous inherited neurodegenerative disorders. Our group recently identified ZFYVE26 as the gene responsible for one of the clinical and genetic entities, SPG15. Our aim was to describe its clinical and mutational spectra. METHODS: We analyzed all exons of SPG15/ZFYVE26 gene by direct sequencing in a series of 60 non-SPG11 HSP subjects with associated mental or MRI abnormalities, including 30 isolated cases. The clinical data were collected through the SPATAX network. RESULTS: We identified 13 novel truncating mutations in ZFYVE26, 12 of which segregated at the homozygous or compound heterozygous states in 8 new SPG15 families while 1 was found at the heterozygous state in a single family. Two of 3 splice site mutations were validated on mRNA of 2 patients. The SPG15 phenotype in 11 affected individuals was characterized by early onset HSP, severe progression of the disease, and mental impairment dominated by cognitive decline. Thin corpus callosum and white matter hyperintensities were MRI hallmarks of the disease in this series. CONCLUSIONS: The mutations are truncating, private, and distributed along the entire coding sequence of ZFYVE26, which complicates the analysis of this gene in clinical practice. In our series of patients with hereditary spastic paraplegia-thin corpus callosum, the largest analyzed so far, SPG15 was the second most frequent form (11.5%) after SPG11. Both forms share similar clinical and imaging presentations with very few distinctions, which are, however, insufficient to infer the molecular diagnosis when faced with a single patient.

Tunisian hereditary spastic paraplegias: clinical variability supported by genetic heterogeneity.

Hereditary spastic paraplegias (HSP) constitute a clinically and genetically heterogeneous group of neurodegenerative disorders characterized by slowly progressive spasticity of the lower extremities. We performed the first clinical, epidemiological and genetic study of HSP in Southern Tunisia. We investigated 88 patients belonging to 38 unrelated Tunisian HSP families. We could establish the minimal prevalence of HSP in the district of Sfax at 5.75/100,000. Thirty-one percent of the families had a pure HSP, whereas 69% had a complicated form. The mode of inheritance was almost exclusively compatible with an autosomal recessive trait (97%, 37/38). Taking into account previously published results and new data generated in this work, genetic studies revealed significant or putative linkage to known HSP loci in 13 families (34.2%) to either SPG11 (7/38, 18.4%), SPG15 (4/38, 10.5%) or to SPG4 and SPG5 in one family each. The linkage results could be validated through the identification of two recurrent truncating mutations (R2034X and M245VfsX246) in the SPG11 gene, three different mutations (Q493X, F683LfsX685 and the novel S2004T/r.?) in the SPG15 gene, the recurrent R499C mutation in the SPG4 gene as well as the new R112X mutation in the SPG5 gene. SPG11 and SPG15 are the major responsible HSP genes in Tunisia.

[Cardiac involvement in Steinert myotonic dystrophy]. / Les anomalies cardiaques au cours de la dystrophie myotonique de Steinert.

INTRODUCTION: Myotonic dystrophy type 1 (DM1) is an autosomal dominant multisystemic disease with frequent cardiac involvement that may cause sudden death. This study was performed to determine the various cardiac manifestations in DM1, their frequency and the relevance of cardiac electrophysiological study in this disease. METHODS: Ten patients with DM1, five men and five women, mean age 44.3+/-7.8 years underwent neurological and cardiac assessments. RESULTS: The most frequent electrocardiographic findings were conduction abnormalities, essentially by intraventricular conduction defects (eight out of ten cases) such as bundle branch or fascicular blocks. Echocardiography showed alterations in systolic left ventricular function in two cases. Invasive electrophysiology testing showed sub-hisien block in three patients, requiring cardiac pacemaker implantation. These three patients had normal duration of PR interval and normal width of QRS complex. CONCLUSIONS: We recommend that all patients with DM1 should undergo cardiac investigation to detect subclinical cardiac involvement.

[Papillary fibroelastoma of mitral leaflet revealed by a cerebrovascular accident. Case report]. / Fibroélastome papillaire de la valve mitrale révélé par un accident vasculaire cérébral ischémique. A propos d'un cas opéré.

Papillary fibroelastoma is a benign primitive cardiac tumour, which can be associated with serious embolic complications. We report on a 37-year-old woman admitted for a cerebrovascular accident. Transthoracic and transesophageal echocardiography revealed a small and pedunculated mass attached to the anterior mitral leaflet. Because of the severity of its symptoms and its high embolic potential, the tumour was surgically excised and histologically diagnosed as a papillary fibroelastoma. The postoperative period was uneventful and the patient was discharged at the third day. Papillary fibroelastoma must be surgically treated because of its high embolic potential and its severe prognosis.