Geneviève Demarquay

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Ataxia with ocular motor apraxia type 1 (AOA1) is an autosomal recessive cerebellar ataxia (ARCA) associated with oculomotor apraxia, hypoalbuminaemia and hypercholesterolaemia. The gene APTX, which encodes aprataxin, has been identified recently. We studied a large series of 158 families with non-Friedreich progressive ARCA. We identified 14 patients (nine(More)
BACKGROUND Many patients may be mentally incompetent or physically unable to give informed consent at the acute stage of stroke. Accordingly, we aimed to investigate the modalities of informed consent in urgent therapeutic stroke trials, the awareness of patients and relatives regarding stroke clinical trials and the impact of decision making on patients(More)
BACKGROUND Medication-overuse headache (MOH) management usually includes a medication withdrawal. The choice of withdrawal modalities remains a matter of debate. METHODS We compared the efficacy of in-patient versus out-patient withdrawal programmes in 82 consecutive patients with MOH in an open-label prospective randomized trial. The main outcome measure(More)
BACKGROUND AND PURPOSE To describe the characteristics of patients presenting a paraneoplastic cerebellar degeneration without classical onconeural antibodies (seronegative PCD). METHODS Thirty-nine seronegative PCD patients from the Paraneoplastic Neurological Syndrome Euronetwork were retrospectively analyzed and compared with 180 patients with PCD(More)
PURPOSE To report three patients with drug-resistant nocturnal hypermotor seizures (NHSs), no detectable brain lesion, and clinically defined nocturnal frontal lobe epilepsy (NFLE) or autosomal dominant NLFE (ADNFLE), whose intracerebral EEG ictal onset primarily involved the insula, rather than the mesial or orbital frontal cortex. METHODS Fourteen to 15(More)
Olfactory disorders are often misjudged and rarely rated in the clinical setting. They are nevertheless described in a wide range of neurological disorders, and their evaluation can be useful for diagnosis. Usually irreversible olfactory dysfunction is a well-known complication after head trauma. Severe changes in olfactory tests are observed in Parkinson's(More)
Neurologic manifestations are rarely described in hereditary hemochromatosis (HH). We describe three patients with HH and movement disorders. Patient 1, a 69-year-old man, had a 13-year history of disabling cerebellar syndrome, action tremor and myoclonus, and secondary dementia. Patient 2 was a 40-year-old man with a 9-year history of cerebellar syndrome,(More)
PURPOSE Several animal studies suggest that the thalamus might be involved in the maintenance and propagation of epileptic seizures. However, electrophysiologic evidence for this implication in human partial epileptic seizures is still lacking. Considering the rich and reciprocal connectivity of the medial pulvinar (PuM) with the temporal lobe, we evaluated(More)
BACKGROUND Among serotonin receptors, 5-HT(1A) receptors are implicated in the regulation of central serotoninergic tone and could be involved in the abnormal brain 5-HT turnover suspected in migraineurs. The aim of this study was to investigate 5-HT(1A) receptors' availability during migraine attacks. METHODS Ten patients suffering from odor-triggered(More)
The aim of this study was to evaluate olfactory hypersensitivity (OHS) between attacks in migraine patients. Seventy-four migraine patients and 30 controls were enrolled. The presence of OHS was evaluated using an oral questionnaire and a chemical odour intolerance index. Subjects had to rate the intensity and hedonicity of 12 odourants using a linear(More)