Constance Flamand-Rouvière

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Glutaric aciduria type 1 (GA1) is an autosomal recessive neurometabolic disorder due to glutaryl CoA dehydrogenase deficiency. Comprehensive descriptions of GA1-associated movement disorders are rare. In order to refine the description of the motor phenotype, we prospectively studied 16 consecutive pediatric and adult GA1 patients, focusing on the movement(More)
Paroxysmal dysarthria-ataxia syndrome (PDA) is a rare neurological disorder that can be either primary or symptomatic of acute neurological dysfunction. Episodes of symptomatic PDA are poorly documented and there are no video reports. We describe the cases of two patients with symptomatic PDA related to demyelinating diseases. Detailed studies of the(More)
Heterozygous mutations in the SLC2A1 gene, which encodes glucose transport protein type 1 (GLUT1), are responsible for GLUT1 deficiency, leading to cerebral energy failure associated with low cerebrospinal fluid (CSF) glucose concentrations [3, 6]. Most patients have permanent or paroxysmal movement disorders, and paroxysmal exerciseinduced dyskinesias(More)
Focal task-specific dystonia (FTSD) occurs exclusively during a specific activity that usually involves a highly skilled movement. Classical FTSD dystonias include writer's cramp and musician's dystonia. Few cases of sport-related dystonia have been reported. We describe the first four cases of FTSD related to table tennis (TT), two involving professional(More)
Speech disturbances are frequent and potentially disabling in patients with dystonia or chorea due to neurometabolic disorders (DCND), but their precise characteristics are poorly documented. We prospectively studied 29 consecutive patients with DCND. A detailed description of their speech patterns was obtained by using the Frenchay dysarthria assessment(More)
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