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Autosomal recessive cerebellar ataxias are a group of clinically and genetically heterogeneous neurodegenerative disorders. Growing data have shown that there is difficulty with genetic counseling in a deeply consanguineous population because of the presence of genetic heterogeneity in patients sharing similar phenotypes. The objective of this study was to report on 11 Tunisian patients belonging to the same large consanguineous family and sharing autosomal recessive ataxia phenotypes caused by three distinct gene defects. A large consanguineous Tunisian family with 11 affected patients was selected. All patients had a complete neurological examination. Blood samples were collected for molecular study. Mutation analysis revealed the presence of three distinct gene defects in the FXN (FRDA), TTPA (AVED), and SACS (ARSACS) genes within the same large family. The genetic heterogeneity observed in this family drew attention to the difficulty of genetic counseling in an inbred population and to the need for genotyping all affected members before giving genetic counseling. [ABSTRACT FROM AUTHOR]

Résumé Introduction L'association de l'épilepsie et des troubles de l'humeur constitue un problème clinique important en raison des conséquences délétères de cette comorbidité. Les tempéraments affectifs ont une valeur importante dans l'identification des groupes à risque de développement des troubles de l'humeur. Cependant, les travaux existant à ce jour sur ce sujet sont peu nombreux. Nous nous sommes proposés d'évaluer les symptômes de dépression et les différents types de tempéraments affectifs dans un groupe de patients épileptiques en comparaison avec des sujets témoins. Méthode Nous avons mené une étude comparative transversale, réalisée auprès de 52 patients épileptiques ambulatoires suivis depuis au moins six mois, dont l'âge était compris entre 16 et 60 ans, et de 53 sujets témoins. Résultats En cohérence avec les données de la littérature, nous avons trouvé des scores de tempéraments dépressif, cyclothymique, irritable et anxieux ainsi que des scores de dépression significativement plus élevés chez les sujets épileptiques en comparaison avec les sujets témoins. Le tempérament hyperthymique a eu le score le plus élevé, suivi des tempéraments anxieux, cyclothymique, et dépressif. Le tempérament irritable a eu le score moyen le plus bas. La distribution des types de tempéraments retrouvée dans notre étude est différente de celles rapportées par d'autres études. Ceci pourrait être expliqué par la différence entre les groupes ethniques. Dans le groupe de patients épileptiques, les scores de dépression étaient fortement associés aux scores des tempéraments dépressif, cyclothymique, irritable et anxieux. Ceci confirme les données antérieurement rapportées dans la littérature, selon lesquelles les patients épileptiques tendent à avoir des tempéraments affectifs qui les exposent au risque de développer des troubles de l'humeur. Conclusion L'évaluation des tempéraments affectifs chez les patients épileptiques permet de définir le sous-groupe à risque de développer des troubles de l'humeur, et améliorer l'approche diagnostique et thérapeutique à leurs égards. Abstract Purpose Epilepsy is a chronic neurological disorder that is associated with an increased risk for psychopathology. Depression is the most common comorbid psychiatric condition in epilepsy, with often atypical clinical manifestations, including symptoms of irritability and anxiety. Temperament refers to biologically based characteristic patterns of emotional reactivity and self-regulation. In early studies, specific temperamental factors have been shown to be risk factors for depression symptoms in adult epilepsy patients. Thus, determining the affective temperament profile of epilepsy patients has important clinical implications especially in identifying those patients most at risk of developing mood disorders. However, very few studies of temperament in epilepsy patients have yet been published. The purpose of this study was to measure depression symptoms and severity, and to assess temperament in adult epilepsy patients, in comparison with control subjects; and to evaluate among the group of epilepsy patients the relationships between affective temperament types, sociodemographic profiles, clinical characteristics, and symptoms of depression. Method Participants were recruited from the Neurology Outpatient Department of National Institute of Neurology in Tunis, Tunisia. The study sample comprised 53 epilepsy outpatients (males = 33, females = 20) over the age of 16 years with a confident diagnosis of epilepsy. Matched controls (based on sex and age) included 52 healthy individuals. The Hamilton Rating Scale for Depression (HRSD) and the Temperament Evaluation of the Memphis, Pisa, Paris, and San Diego-Auto questionnaire (TEMPS-A) was used in their Arabic versions to measure depression and temperament respectively. The questionnaires were administered individually. Data were analyzed using SPSS software, version 18. Results Findings indicated that patients with epilepsy had higher scores on depression and temperament scales than healthy controls. With respect to temperaments, hyperthymic temperament had the highest score in patients and controls, followed by anxious, cyclothymic, and depressive temperaments. Irritable temperament had the lowest average score. No significant associations were found between sociodemographic profile, illness characteristics and temperament scores in patients with epilepsy. An extremely strong association was found between depressive, cyclothymic, irritable and anxious temperament scores and the HRSD scale among epilepsy patients. These findings confirm literature data about affective temperament profile in epilepsy patients that put them at greater risk for mood disorders. Conclusion Results underscore the importance of assessment of affective temperaments among epilepsy patients, which could play a key role in defining the sub-group at high risk for developing mood disorders and improving, consequently, diagnostic and therapeutic approaches to patients suffering from both epilepsy and depression. More extended studies may help validate the concepts of profile temperaments in epilepsy and their relation to depressive vulnerability. [ABSTRACT FROM AUTHOR]

Background: Several genes have been implicated in the pathogenesis of Parkinson's disease (PD). The aim of this study was to define the clinical symptoms and age-associated cumulative incidence of the most frequent mutation associated with PD, LRRK2 Gly2019Ser. Methods: 238 patients with sporadic PD and 371 unrelated control participants from the Arab-Berber population were screened at the Institut National de Neurologie, Tunis. Symptoms of PD were assessed using the Hoehn and Yahr scale, the unified Parkinson's disease rating scale, and the Epworth scale. Genotyping for LRRK2 6055G-->A, which causes the Gly2019Ser mutation, was done in all participants, and the age-specific cumulative incidence of PD was calculated by Kaplan-Meier analysis. Findings: 30% of patients with PD in this case-control sample were carriers of LRRK2 Gly2019Ser. The age of onset of symptoms and the clinical presentation of patients with LRRK2 Gly2019Ser were similar to those of patients with idiopathic PD. Carriers of LRRK2 Gly2019Ser were 22.6 times (95% CI 10.2-50.1) more likely to be affected by PD than non-carriers. Tremor was the predominant symptom in LRRK2 Gly2019Ser carriers (92% [homozygotes] vs 75% [heterozygotes] vs 69% [non-carriers]; Cochran-Armitage trend test p=0.0587). Disease severity, response to treatment, and disease duration were similar among LRRK2 Gly2019Ser homozygotes, heterozygotes, and non-carriers (p=0.85). Disease penetrance in LRRK2 Gly2019Ser carriers ranged from less than 20% in those younger than 50 years to greater than 80% at 70 years. Interpretation: The LRRK2 Gly2019Ser mutation in patients with PD is a useful aid to diagnosis. LRRK2 Gly2019Ser penetrance can vary but in most carriers PD seems an inevitable consequence of ageing. LRRK2 Gly2019Ser considerably increases susceptibility to neuronal degeneration, although the process might be mediated by many triggers. By contrast, idiopathic PD is rare before 50 years and the prevalence only increases to 4% in the oldest members of the population. Funding: GlaxoSmithKline; National Institutes of Health; and Mayo Foundation. [ABSTRACT FROM AUTHOR]