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Publications (6)4.96 Total impact

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    ABSTRACT: Inclusion body myopathy with Paget's disease of the bone and frontotemporal dementia (IBMPFD) is a rare late-onset autosomal dominant disorder due to a mutation of the valosin-containing protein (VCP) gene. We report the case of a patient who developed progressive weakness of the limbs in his fifties, until he was confined to a wheelchair. At that time, he developed acute behavioural changes including irritability, severe anxiety and major depression, which led to him being hospitalised in a psychiatric hospital. He also suffered from aphasia and executive function impairment, which helped us to diagnose a behavioural form of frontotemporal dementia (FTD). The diagnosis of IBMPFD due to a mutation in the VCP gene was confirmed by a genetic study of the VCP gene (R155H mutation). THE CLINICAL DIAGNOSIS OF IBMPFD IS SUGGESTED BY THE PRESENCE OF AT LEAST ONE OF THREE MAJOR MANIFESTATIONS AS FOLLOWS: inclusion body myopathy (mean onset at 42 years of age), Paget's disease of the bone and FTD (mean onset at 55 years of age). It is mostly the behavioural form of FTD (behavioural changes, executive dysfunction and aphasia). One interesting finding in our report is the predominance of the psychiatric symptoms at the beginning of the behavioural changes, which led to the diagnosis of FTD. The diagnosis of IBMPFD was confirmed by the genetic study: the R155H mutation found on exon 5 domain CDC48 is the most frequent of the 18 known mutations in the VCP gene.
    Case Reports in Neurology 01/2013; 5(3):187-194.
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    ABSTRACT: We aimed to evaluate the prognostic value of early epileptic seizures after stroke. All consecutive patients with a first-ever stroke were prospectively identified within the population of Dijon, France, thanks to a population-based registry, from 1985 to 2010. Early epileptic seizures were defined as seizures occurring within 14 days after stroke onset. Outcomes were 1-month and 1-year mortality, and severe functional handicap at discharge. Of the 4,411 stroke patients included, data about seizures were available in 4,358 (98.8, 53.5 % women, mean age, 74.1 ± 14.8 years). Among these patients, 134 (3.1 %) had early seizures. Stroke patients with early seizures differed from those without seizures, as there was a higher proportion of hemorrhagic stroke, higher blood glucose level at admission, smoking status, and more frequent impaired. Higher risks of 1-month and 1-year mortality in patients with early seizures (unadjusted HR 1.45, 95 % CI 1.00-2.10; HR = 1.59, 95 % CI 1.21-2.09, respectively) disappeared (HR 0.71, 95 % CI 0.49-1.08 and HR 0.85, 95 % CI 0.64-1.17) after adjustment for stroke severity and other confounding factors. Early seizures were associated with severe handicap in unadjusted analyses (OR 2.07, 95 % CI 1.46-2.95) but the association was no longer significant after multivariable adjustment (OR 1.12, 95 % CI 0.69-1.83). Early epileptic seizures were not associated with higher risks of mortality at 1 month and 1 year or with unfavorable functional outcome after acute stroke. The adverse effects of epileptic seizures may not be distinguishable from stroke severity, which is strongly related to epileptic seizures.
    Journal of Neurology 11/2012; · 3.58 Impact Factor
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    ABSTRACT: Botulism is a potentially fatal infectious disease induced by a neurotoxin secreted by Clostridium botulinum, a sporulated species of obligate anaerobic bacteria. This neurotoxin inhibits the normal release of acetylcholine in the synaptic cleft, inducing presynaptic neuromuscular blockade. The diagnosis is often difficult because of the range and the lack of specificity of the symptoms. We report two cases of human botulism. The first case was easy to diagnose, with dysphagia, dysphonia, blurred vision, and xerostomia, associated with potentiation on electromyogram and B botulinum toxin in the serum. Symptoms in the second case included diplopia, blurred vision, dysphagia, dysphonia, with potentiation on electromyogram but no botulinum toxin. These two cases remind us of the necessity to keep botulism in mind when systemic atropinic symptoms are found together with generalized, progressive and extensive paralysis. The diagnosis is confirmed by electromyogram and serology. There is no specific treatment for botulism; only intensive care surveillance and symptomatic treatment improve survival.
    La Presse Médicale 06/2008; 37(5 Pt 1):789-92. · 0.87 Impact Factor
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    ABSTRACT: Introduction Botulism is a potentially fatal infectious disease induced by a neurotoxin secreted by Clostridium botulinum, a sporulated species of obligate anaerobic bacteria. This neurotoxin inhibits the normal release of acetylcholine in the synaptic cleft, inducing presynaptic neuromuscular blockade. The diagnosis is often difficult because of the range and the lack of specificity of the symptoms. Case We report two cases of human botulism. The first case was easy to diagnose, with dysphagia, dysphonia, blurred vision, and xerostomia, associated with potentiation on electromyogram and B botulinum toxin in the serum. Symptoms in the second case included diplopia, blurred vision, dysphagia, dysphonia, with potentiation on electromyogram but no botulinum toxin. Discussion These two cases remind us of the necessity to keep botulism in mind when systemic atropinic symptoms are found together with generalized, progressive and extensive paralysis. The diagnosis is confirmed by electromyogram and serology. There is no specific treatment for botulism; only intensive care surveillance and symptomatic treatment improve survival.
    Presse Medicale. 01/2008; 37(5):789-792.
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    ABSTRACT: Lafora's disease is a progressive myoclonus epilepsy and must be evocated if myoclonus, occipital seizures and progressive cognitive impairment are present. We report the case of a 14-year-old boy who suffered from several occipital seizures and two generalised seizures. The diagnosis of Lafora's disease was made six years after these inaugural symptoms because of occurrence of myoclonus, aggravation of the epilepsy with paharmacoresistance and psychic deterioration. Axila sweat gland duct biopsy was performed to conclude to the disease. A mutation was found on the gene EPM2A. Lafora's disease is a genetic autosomal-recessive pathology. Two genes have been recently identified. They code for two proteins, malin and laforin, involved in glycogen metabolism in the cellular endoplasmic reticulum. Mutations of these genes are responsible for intracytoplasmic polyglucosan inclusions called Lafora bodies and pathognomonic of the disease.
    Revue Neurologique 11/2007; 163(10):975-8. · 0.51 Impact Factor
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    ABSTRACT: Lafora's disease is a progressive myoclonus epilepsy and must be evocated if myoclonus, occipital seizures and progressive cognitive impairment are present. We report the case of a 14-year-old boy who suffered from several occipital seizures and two generalised seizures. The diagnosis of Lafora's disease was made six years after these inaugural symptoms because of occurrence of myoclonus, aggravation of the epilepsy with paharmacoresistance and psychic deterioration. Axila sweat gland duct biopsy was performed to conclude to the disease. A mutation was found on the gene EPM2A. Lafora's disease is a genetic autosomal-recessive pathology. Two genes have been recently identified. They code for two proteins, malin and laforin, involved in glycogen metabolism in the cellular endoplasmic reticulum. Mutations of these genes are responsible for intracytoplasmic polyglucosan inclusions called Lafora bodies and pathognomonic of the disease.
    Revue Neurologique - REV NEUROL. 01/2007; 163(10):975-978.