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Marie Vidailhet

Publications and source records attributed to Marie Vidailhet.

25 records · Page 2Linked to original sources
PubMed2003

Parkin mutations are frequent in patients with isolated early-onset parkinsonism.

Parkin gene mutations are reported to be a major cause of early-onset parkinsonism (age at onset < or = 45 years) in families with autosomal recessive inheritance and in isolated juvenile-onset parkinsonism (age at onset <20 years). However, the precise frequency of parkin mutations in isolated cases is not known. In order to evaluate the frequency of parkin mutations in patients with isolated early-onset parkinsonism according to their age at onset, we studied 146 patients of various geographical origin with an age at onset < or = 45 years. All were screened for mutations in the parkin gene using semi-quantitative polymerase chain reaction combined with sequencing of the entire coding region. We identified parkin mutations in 20 patients including three new exon rearrangements and two new missense mutations. These results, taken in conjunction with those of our previous study (Lücking et al., 2000) show that parkin mutations account for at least 15% (38 out of 246) of our early-onset cases without family history, but that the proportion decreases significantly with increasing age at onset. There were no clinical group differences between parkin cases and other patients with early-onset parkinsonism. However, a single case presenting with cerebellar ataxia several years before typical parkinsonism extends the spectrum of parkin related-disease.

Adolescent↗
PubMed2003

Dystonia: lessons from brain mapping.

Functional neuroimaging with positron emission tomography, single photon emission computer tomography, magnetic resonance imaging, and magnetoencephalography have provided powerful tools to elucidate anatomo-functional impairment underlying movement disorders such as dystonic movements. They have revealed that presymptomatic cerebral abnormalities may be a common feature in dystonia whatever the clinical status. Techniques using specific markers have recently focused on the type of receptors that may be dysactivated and on the kind of neurotransmitter that may be dysregulated in dystonia.

Brain↗
PubMed2003

[Heterogeneity of Parkinson's disease].

Parkinson's disease was, until recently, a unique disease. The discovery of several genetic factors has emphasized the heterogeneity of the disease. Analyse of structure and function of these gene products points to their critical role in dopaminergic neurons death and pathophysiology of parkinson's disease. In the mean time the clinical constellation of parkinsonian syndromes have been lumped into "synucleinopathies" and "taupathies" that both share common pathologic lesions. It is likely that clarification of the combined genetic and environmental factors undelying these various disorders will lead to novel diagnostic and therapeutic strategies.

Diagnosis, Differential↗
PubMed2002

Dopaminergic function and dopamine transporter binding assessed with positron emission tomography in Parkinson disease.

BACKGROUND: Measuring progression of Parkinson disease (PD) using positron emission tomography may help demonstrate the efficacy of neuroprotective treatments. To date, (18)F-dopa has been the gold standard to measure presynaptic dopaminergic function in PD, but this tracer might overestimate the rate of neuronal death in PD because its uptake also depends on dopamine turnover rather than exclusively on the density of dopaminergic terminals in the striatum. The latter might be assessed using newly developed ligands of the membrane dopamine transporter. OBJECTIVE: To compare the striatal uptakes of (18)F-dopa and (76)Br-FE-CBT, a dopamine transporter ligand, in patients with PD. PATIENTS AND METHODS: The striatal uptakes of (76)Br-FE-CBT and (18)F-dopa were compared using positron emission tomography in 10 patients with early PD and 8 with advanced PD. Correlation of uptakes with motor performance was investigated. RESULTS: The reduction in (76)Br-FE-CBT binding to 43% of control values was more severe than the reduction in (18)F-dopa uptake (63% of control values) in the putamen of patients with early PD. No significant difference was found between either tracer's uptake in the putamen of patients with advanced PD. Motor performance was highly correlated to (18)F-dopa uptake, whereas correlation to (76)Br-FE-CBT binding was weak. CONCLUSIONS: Uptake of (18)F-dopa may be up-regulated in early PD, suggesting a compensatory increase of dopamine synthesis in surviving dopaminergic terminals. Positron emission tomography dopamine transporter ligands and (18)F-dopa give complementary information on the presynaptic status of the nigrostriatal dopaminergic system and might be associated to investigate the efficacy of neuroprotective treatments in PD.

Aged↗
PubMed2002

Myoclonus-dystonia syndrome: epsilon-sarcoglycan mutations and phenotype.

Mutations in the gene for epsilon-sarcoglycan (SGCE) have been found to cause myoclonus-dystonia syndrome. We now report clinical and genetic findings in nine additional European families with myoclonus-dystonia syndrome. The clinical presentation in 24 affecteds was homogeneous with myoclonus predominantly of neck and upper limbs in 23 of them and dystonia, presenting as cervical dystonia and/or writer's cramp, in 13 cases. Six novel and one previously known heterozygous SGCE mutations were identified. SGCE deficiency seems to be the common pathogenetic mechanism in myoclonus-dystonia syndrome.

Adolescent↗
PubMed2002

Micrographia secondary to lenticular lesions.

Four patients with a stroke developed micrographia. In two patients, the condition was pure and in the two other patients it was associated with signs of writer's cramp. We conclude that infarct of the left lenticular nucleus could either mimic pure micrographia similar to that of Parkinson's disease or micrographia associated with dystonia.

Adult↗