Neuropsychiatric and socio-cultural aspects in a Malian family with spinocerebellar ataxia.

INTRODUCTION: Spino-cerebellar ataxia or SCA are dominant neurological diseases caused by mutations in several genes. According to social and cultural contexts, especially in populations with low education level, the advent of such diseases might generate other kinds of suffering beside those caused by the physical impairment and disability. The aim of this work was to determine the impact of this disease in patients and their relatives. METHODS: It was a qualitative approach carried out through semi-directive clinical interviews, neuropsychiatric observations and the administration of the Hamilton depression scale. RESULTS: The study included a polygamous family in which mothers had 10 and 12 maternities. Neurological manifestations concerned four children of the same siblings and the father in a subtle form. The mother of these children was designated as responsible for the transmission of the disease and presented a reaction depression. Irritability, anxiety and depression reactions were observed in two patients and an unaffected brother. The advent of the disease was associated to the hatching of a latent familial conflict related to the father's status that has been established only after four years. CONCLUSION: In a social and cultural setting of polygamy, the advent of dominant ataxia with anticipation might revive latent familial conflicts and have psychological and social repercussions on the affected individuals and their relatives.

INTRODUCTION: Les ataxies spinocérébelleuses dominantes ou SCA sont des maladies neurologiques causées par des mutations dans plusieurs gènes. En fonction des contextes socioculturels, surtout dans des populations à faible niveau éducatif, de telles pathologies sont susceptible d'engendrer d'autres types de souffrances en dehors de celles dues à l'atteinte physique et au handicap. Le présent travail a pour objectif de déterminer l'impact du vécu de cette maladie chez les patients ainsi que chez leurs parents. MÉTHODES: Il s'est agi d'une approche qualitative réalisée à travers des entretiens cliniques semi-directifs, des observations neuropsychiatriques et l'administration de l'échelle de dépression d'Hamilton. RÉSULTATS: L'étude a concerné une famille polygame dans laquelle les mères avaient eu 10 et 12 maternités. Les manifestations neurologiques ont concerné quatre enfants d'une même fratrie utérine et, de façon fruste, le père. La mère de ces enfants était désignée comme responsable de la transmission de la maladie et avait présenté une dépression réactionnelle. Des réactions d'irritabilité, d'anxiété et de dépression ont été observées chez deux patients et un frère non atteint. L'apparition de la maladie était associée à l'éclosion d'un conflit familial latent lié au statut du père qui n'a été établi que quatre années plus tard. CONCLUSION: Dans un contexte socioculturel de polygamie, le déclenchement d'une ataxie dominante avec notion d'anticipation est susceptible de raviver des conflits intrafamiliaux latents et de se répercuter sur la sphère psychologique et sociale des personnes affectées et de leur entourage.

Hereditary spastic paraplegia in Mali: epidemiological and clinical features.

BACKGROUND AND PURPOSE: Hereditary spastic paraplegia (HSP) is a group of neurodegenerative diseases divided into pure and complex forms, with spasticity in lower limbs only, or associated with other neurologic and non-neurologic manifestations, respectively. Although widely reported in other populations, very little data exist in sub-Saharan Africa. METHODS: Patients with neurodegenerative features were evaluated over a 19-month period at the Department of Neurology, Teaching Hospital of Point "G", Bamako, Mali. The diagnosis of HSP was considered based on family history and the absence of other known non-genetic causes. Genetic analysis including candidate gene and whole exome sequencing was performed and variant pathogenicity was tested using prediction tools and ACMG guidelines. RESULTS: Of the 170 families with hereditary neurological disorders enrolled, 16 had features consistent with HSP, a frequency of 9%. The average age of onset was 14.7 years with 46% starting before age 6. The male/female ratio was 2.6:1. Complex forms were seen in 75% of cases, and pure forms in 25%. Pyramidal findings were present in all patients. Associated features included mental retardation, peripheral neuropathy, epilepsy, oculomotor impairment and urinary urgency. Most patients were treated with a muscle relaxant and physical therapy, and restorative surgery was done in one. Genetic testing identified novel variants in three families (19%). CONCLUSION: This study confirms the clinical variability of HSPs and adds African data to the current literature.

Effect of seasonality and ecological factors on the prevalence of the four malaria parasite species in northern mali.

Background. We performed 2 cross-sectional studies in Ménaka in the Northeastern Mali across 9 sites in different ecological settings: 4 sites have permanent ponds, 4 without ponds, and one (City of Ménaka) has a semipermanent pond. We enrolled 1328 subjects in May 2004 (hot dry season) and 1422 in February 2005 (cold dry season) after the rainy season. Objective. To examine the seasonality of malaria parasite prevalence in this dry northern part of Mali at the edge of the Sahara desert. Results. Slide prevalence was lower in hot dry than cold dry season (4.94 versus 6.85%, P = 0.025). Gametocyte rate increased to 0.91% in February. Four species were identified. Plasmodium falciparum was most prevalent (74.13 and 63.72%). P. malariae increased from 9.38% to 22.54% in February. In contrast, prevalence of P. vivax was higher (10.31%) without seasonal variation. Smear positivity was associated with splenomegaly (P = 0.007). Malaria remained stable in the villages with ponds (P = 0.221); in contrast, prevalence varied between the 2 seasons in the villages without ponds (P = 0.004). Conclusion. Malaria was mesoendemic; 4 species circulates with a seasonal fluctuation for Plasmodium falciparum.