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BACKGROUND Familial cortical myoclonic tremor with epilepsy (FCMTE) is defined by autosomal dominant adult-onset cortical myoclonus (CM) and seizures in 40% of patients. Two loci, 8q23.3-q24.11 (FAME1/FCMTE1) and 2p11.1-q12.2 (FAME2/FCMTE2), were previously reported without an identified gene. Unlinked families argue for a third mutated gene. METHODS A(More)
Department of Clinical Psychiatry, University Hospital of Besançon, France EA 481 Neuroscience, IFR 133, University of Franche-Comt e, Besançon, France Clinical Investigation Center CIC-IT 808 INSERM, University Hospital of Besançon, France Department of Neurology, University Hospital of Besançon, France Memory Center of Research and Resources (MCRR),(More)
INTRODUCTION The aim of this study was to propose diagnostic norms for the rapid neuropsychological battery, in the detection of cognitive impairment due to Alzheimer's disease. POPULATION AND METHODS Three hundred and fifty-two control subjects (mean MMSE : 27.3 ± 2.5) and 676 patients with Alzheimer's disease (mean MMSE : 22.9 ± 2.6) at a mild stage(More)
BACKGROUND/AIMS Numerous authors have described olfactory dysfunction in multiple sclerosis (MS) in recent years. The aim of this study was to specify the aspects of olfactory perception that are most affected and to identify any correlations with clinical, anatomical and functional data. METHODS 50 patients with remitting or secondary progressive MS were(More)
BACKGROUND Non-progressive congenital ataxias (NPCA) with or without intellectual disability (ID) are clinically and genetically heterogeneous conditions. As a consequence, the identification of the genes responsible for these phenotypes remained limited. OBJECTIVE Identification of a new gene responsible for NPCA and ID. Methods Following the discovery(More)
Few language disorders have been reported in posterior cortical atrophy (PCA). Furthermore, no study has focused on screening for them and described these language deficits. The goal of this work was to describe linguistic examination of PCA patients and the impact of language disorders on neuropsychological performances compared to patients with other(More)
The aim of this work is to study the cognition, progressive gait impairment, and neuroimaging findings in two patients over 65 years old of the previously described type 3 familial cortical myoclonic tremor with epilepsy (FCMTE3). We report investigations in two of these five FCMTE3 subjects over 65 and showing progressive gait disorders. They both had a(More)
Cognitive disorders appearing in the course of bipolar disease have been identified, and recent studies have defined the neuropsychological characteristics of this pathology, which includes attention, executive function, memory and language disorders. However, questions remain concerning the appearance of dementia symptoms over the course of bipolar(More)
CSF biomarkers of Alzheimer’s disease are well validated in clinical research; however, their pragmatic utility in daily practice is still unappreciated. These biomarkers are used in routine practice according to Health Authority Recommendations. In 604 consecutive patients explored for cognitive disorders, questionnaires were prospectively proposed and(More)
INTRODUCTION Familial cortical myoclonic tremor with epilepsy (FCMTE) is defined by an autosomal-dominant inheritance, adult onset of myoclonus of the extremities, infrequent epileptic seizures, a non-progressive course, polyspikes on electroencephalography (EEG), photosensitivity, giant somatosensory-evoked potentials (SEP), enhancement of C-reflex and a(More)