M Vidailhet

..A combination of clinical, electrophysiological, and [(123)I]-FP-CIT SPECT scan explorations improves diagnostic accuracy in order to distinguish PP from PP + PD...

..It is likely that clarification of the combined genetic and environmental factors undelying these various disorders will lead to novel diagnostic and therapeutic strategies...

..Severe forms of dystonia respond poorly to medical treatment. Deep-brain stimulation is a reversible neurosurgical procedure that has been used for the treatment of dystonia, but assessment of its efficacy has been limited to open studies...

..To determine the role of damage to neuronal systems, especially the dopaminergic system, in patients with symptomatic dystonia and mesencephalic lesions...

..To establish phenotype-genotype correlations in early-onset Parkinson disease (EOPD), we performed neurologic, neuropsychological, and psychiatric evaluations in a series of patients with and without parkin mutations...

..To determine which thalamic subnuclei are involved in symptomatic unilateral movement disorders due to localized thalamic infarction, and the clinical characteristics of these abnormal movements...

..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...

..To clarify the clinical and neurophysiologic spectrum of myoclonus-dystonia patients with mutations of the SGCE gene...

..Evidence in other primary dystonia, including blepharospasm and cervical dystonia, suggest that structural abnormalities may be observed in other brain areas such as the cerebellum in writer's cramp...

..Two genes yet to be identified are mapped to 8q23.3-q24.1 and 2p11.1-q12.2...

..That finger representations from the dystonic limb were almost normal for the less severely affected patients may be due to intrinsic beneficial remapping in reaction against the primary disorder...

..This preliminary study shows that gabapentin improves reflexive saccade inhibition in patients with PSP but does not improve the latency of VGSs...

..5 to 38 years. Only four patients from two families had a positive response to alcohol. Lod scores were positive in all four families, suggesting that chromosome 7q21-q31 is a major locus for myoclonus-dystonia with several phenotypes...

..The objective was to study clinical and genetic characteristics of 3 European families with MM and to test whether this disorder is genetically homogeneous...

..The favorable natural history, the episodic nature of the symptoms and their sensitivity to anticonvulsant therapy suggest channelopathy as a mechanism of PKD...

..The fluctuation and disappearance of clinical RBD in some patients may be due to functional abnormalities rather than lesions...

..Moreover, a significant mild improvement in executive functions was observed, which may have been related either to the surgical treatment or to the marked decrease in anticholinergic drugs...

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..The literature on propriospinal myoclonus (PSM) is poor and there are no systematic reviews of the subject. We sought to clarify the spectrum of PSM...

..However, increased rhythmicities in basal ganglia or in cerebello-thalamic loops at the rapid frequencies range seen in PD could favor the emergence of a primary orthostatic tremor-like tremor in PD patients...

..Homeostatic regulation of cortical plasticity may be overwhelmed, resulting in dystonia...

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..The NNIPPS diagnostic criteria were consistent and valid. They can be used to distinguish between PSP and MSA with high accuracy, and should facilitate research into these conditions relatively early in their evolution...

..To assess disease severity and progression, we constructed and validated a new clinical rating scale as an ancillary study...

..These genotype and clinical analyses on the largest homogeneous sample of European patients studied to date confirmed that GBA mutations are the most common genetic risk factor for PD, particularly in familial forms...

..Technical problems were commonplace. Duodenal levodopa infusion seems to be an effective last-line therapy for motor complications in Parkinson's disease. Hence, technical improvements and earlier introduction should be considered...

..Among the paroxysmal disorders, these diseases may belong to the group of channelopathies...

..Based on therapeutic progress and the proposed method using determination of blood immunoreactive trypsin then study of the main CF mutations, there is strong hope of effective CF detection and clinical benefit for the patients...

..The expert groups still meet periodically to evaluate the implementation of the programme and to check that the terms of the agreement between the AFDPHE and the Social Security Agency are complied with...

..They could play a role in the disturbances of precise voluntary movements observed in Parkinson's disease...

..Here we report three novel mutations in the NADH-cytochrome b5 reductase gene. Prenatal diagnosis of this extremely severe disease should be proposed to affected families...

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..Spectroscopic MRI may also be used to measure GABA levels, which are decreased in the cortex and basal ganglia in these patients...

..Diplopia is rare in this disease and has only been reported in patients with diffuse neuromuscular disorders...

..Myoclonus dystonia syndrome (MDS) is an autosomal dominant movement disorder caused by mutations in the epsilon-sarcoglycan gene (SGCE) on chromosome 7q21...

..Together, these results do not support a major role of GIGYF2 in PD...

..As multiple mechanisms are involved in neuronal death, the use of drugs association should be considered in future neuroprotective therapeutic trials...

..We discuss the data of literature and compare them with the experience of the French movement disorders groups...

..They also have an excess risk of obstetric morbidity and valvular disease. The prescription of antiplatelet agents and adequate management, especially during pregnancy, can probably reduce this risk...

..It is usually associated with the presence of anti-GQ1b antibodies. We report a case of post-infectious ophtalmoparesis that was negative for anti-GQ1b antibodies and positive for anti-GM1 antibodies...

..Benefit was maintained over time CONCLUSIONS: These results have implications for the identification of patients most likely to benefit from BTX injections...

..Choreic movements disappeared with a decrease of MRI lesions observed in basal ganglia. CONCLUSION: The efficacy of anti-retroviral therapy in choreic movements, a rare syndrome with HIV encephalitis, can be underlined...

..No mutations were identified in seven families. The clinical spectrum extended from the classical DRD phenotype to parkinsonism with levodopa-induced dyskinesias, and included spastic paraplegia as well as the absence of dystonia...

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..The clinical spectrum of the disease in our families, with age at onset <=58 years and the presence of painful dystonia in some patients, is broader than that reported previously...

..It is possibly caused by the ingestion of sour sop (corossol), a tropical fruit containing acetogenins, which are mitochondrial poisons...

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..Patients with the severe and generalized forms can benefit from bilateral high-frequency pallidal stimulation...

..In one, myoclonus of paralysed legs arose below a region of spinal cord lacking any normal function, illustrating the capacity of the isolated spinal cord to generate and maintain rhythmic activity independent of supraspinal influences...

..Patients with a single heterozygous mutation had significantly later and more asymmetrical onset and more frequent levodopa-induced fluctuations and dystonia than patients with two mutations...

..These observations show the usefulness of neurophysiological investigations for diagnosing and treating unexplained unsteadiness in Parkinson's disease...

..However, the reliability of this tool has rarely been evaluated and its use in a multicenter study has never been assessed prospectively...

..Various pulse widths (from 60-450 mus) have been used for bilateral pallidal stimulation in generalized dystonia but, to date, no comparison of this parameter's effects is available...

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..We emphasize that a precise clinical analysis can lead to a correct diagnosis before electrophysiological confirmation. This is also the first-ever report of efficacy of levetiracetam in FCMT...

..Mental representation of movements with each hand resulted in overactivity in bilateral parietal, premotor and prefrontal areas. These results suggest that execution and mental representation of movement are altered in these patients...

..These findings support the view that a global abnormal somatosensory coupling in focal hand dystonia may contribute to an inadequate motor command to wrist muscles...

..These movements would eventually be transmitted to lower motor neurons because of brainstem lesions interrupting the pontomedullary pathways which mediate the REM sleep atonia...

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..We performed bilateral pallidal stimulation in a patient with GM1 gangliosidosis and report the 12-month postoperative course...

..Tract-specific analysis may provide new insights into the pathophysiology of propriospinal myoclonus...

..The whole results indicate that dopamine administration in patients might have overshadowed the slowing rate of the internal clock usually reported in non medicated PD patients, without entirely restoring all of the memory functions...

..According to the present study, generalized dystonia is associated with prefrontal overactivation which can be reversed by effective GPi DBS...

..Mutations in leucine-rich repeat kinase 2 gene (LRRK2), particularly the G2019S mutation in exon 41, have been detected in familial and sporadic Parkinson disease (PD) cases...

..This report illustrates the role of dopamine modulation in motor, psychiatric, and endocrine functions...

..Loss of interaction between interneurons mediating sICI and peripheral inputs probably belongs to the initial abnormalities underlying dystonia. Lack of peripherally induced sICI modulation may oppose wrist and/or hand muscles synergies...

..GM1 gangliosidosis must be considered as a cause of early-onset generalized dystonia, particularly in patients with short stature and skeletal dysplasia...

..Six novel and one previously known heterozygous SGCE mutations were identified. SGCE deficiency seems to be the common pathogenetic mechanism in myoclonus-dystonia syndrome...

..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...

..004). This case-control study provided new findings about risk factors of MSA. On another hand, it did not confirm the previously reported association between MSA and exposure to pesticides...

..However, a single case presenting with cerebellar ataxia several years before typical parkinsonism extends the spectrum of parkin related-disease...

..These features, not previously described, illustrate an extension of the cerebral and digestive neurological involvement in this syndrome...

..By definition, PKD is transient, but the overexcitability of the neuronal system that induces these attacks may be permanent. Interictal myoclonus could be a manifestation of permanent overexcitability...

..Silver-Russell syndrome is a heterogeneous disorder characterized by prenatal and postnatal growth restriction and a characteristic facies, caused in some cases by maternal uniparental disomy of chromosome 7...

..This supports the assumption that abnormal HFOs reflect pathophysiological mechanisms occurring in focal dystonia, possibly resulting from a dysfunction of somatosensory processing...

..We describe five patients with Parkinson's disease and head tremor in whom clinical and neurophysiological findings suggested that head tremor was a manifestation of Parkinson's disease...