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Genomes and Genes | Marie VidailhetSummaryCountry: France Publications
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Treatment of movement disorders in dystonia-choreoathtosis cerebral palsyMarie Vidailhet
Department of Neurology, Salpetriere Hospital, Paris, France Electronic address
Handb Clin Neurol 111:197-202. 2013..Optimal placement of the leads was a major (but not exclusive) factor for good outcome but results cannot be predicted on an individual basis and larger studies are needed...
[New approaches in dystonia (clinical features, genetic issues and pathophysiology]Marie Vidailhet
Neurologie et Institut du Cerveau et de la Moelle Epinière CRICM UPMC INSERM UMR_S975 CNRS UMR7225, GH Pitié Salpétrière, 47 83 Boulevard de l Hôpital 75013 Paris
Bull Acad Natl Med 195:921-34; discussion 934. 2011..Current pathophysiological knowledge, including anatomic-functional abnormalities, is summarized...
Malignant catatonia due to anti-NMDA-receptor encephalitis in a 17-year-old girl: case reportAngèle Consoli
Department of Child and Adolescent Psychiatry, Universite Pierre et Marie Curie, Hopital Pitie Salpetriere, AP HP, 47 83, Boulevard de l Hopital, 75013, Paris, France
Child Adolesc Psychiatry Ment Health 5:15. 2011..She improved after plasma exchange and immunosuppressive therapy. Post-cognitive sequelae (memory impairment) disappeared within 2-year follow-up and intensive cognitive rehabilitation...- Bilateral pallidal deep brain stimulation for the treatment of patients with dystonia-choreoathetosis cerebral palsy: a prospective pilot studyMarie Vidailhet
AP HP, Groupe Hospitalier Pitie Salpetriere, Federation de Neurologie, Paris, F 75013, France
Lancet Neurol 8:709-17. 2009..Our aim was to test the effectiveness of BP-DBS in adults with dystonia-choreoathetosis CP... - Pathophysiology of dystoniaMarie Vidailhet
Federation de Neurologie, Groupe Hospitalier Pitie Salpetriere, AP HP, Universite Pierre et Marie Curie PARIS6, INSERM, UMRS 975, CNRS UMR 7225, Paris, France
Curr Opin Neurol 22:406-13. 2009..Moreover, new advances in genetics have broadened the spectrum of dystonia. Here, we discuss these findings and their implication in the pathophysiology of dystonia... - Bilateral, pallidal, deep-brain stimulation in primary generalised dystonia: a prospective 3 year follow-up studyMarie Vidailhet
INSERM U679, Neurology and Experimental Therapeutics, Groupe Hospitalier Pitie Salpetriere, Paris, France
Lancet Neurol 6:223-9. 2007.... - REM sleep behavior disorder in patients with guadeloupean parkinsonism, a tauopathyValerie Cochen De Cock
Service de Neurologie, Hopital Saint Antoine, Paris, France
Sleep 30:1026-32. 2007..It is possibly caused by the ingestion of sour sop (corossol), a tropical fruit containing acetogenins, which are mitochondrial poisons... - EIF4G1 in familial Parkinson's disease: pathogenic mutations or rare benign variants?Suzanne Lesage
Universite Pierre et Marie Curie PARIS6, Centre de Recherche de l Institut du Cerveau et de la Moelle Epiniere, UMR S975, INSERM, U975, CNRS, UMR 7225, Hopital de la Pitie Salpetriere, Paris, France
Neurobiol Aging 33:2233.e1-2233.e5. 2012..G686C) and in a control subject (p.R1197W). These data do not support the pathogenicity of several EIF4G1 variants in PD, at least in the French population... - Bilateral deep brain stimulation of the pallidum for myoclonus-dystonia due to ε-sarcoglycan mutations: a pilot studyJulie Azoulay-Zyss
Service de Neurologie, Groupe Hospitalier Paris Saint Joseph, Universite Paris 5, Paris, France
Arch Neurol 68:94-8. 2011..To assess the efficacy of bilateral deep brain stimulation of the internal pallidum in patients with myoclonus-dystonia due to genetically proved ε-sarcoglycan (SGCE-M-D) deficiency... - Interruption of deep brain stimulation of the globus pallidus in primary generalized dystoniaDavid Grabli
Neurology Department and Centre de Référence des Maladies Neurogénétiques, Hopital de la Salpetriere, Paris, France
Mov Disord 24:2363-9. 2009..The interruption of GP DBS in dystonia results in a progressive worsening which is rapidly reversible once the neurostimulator is turned ON... - A motor signature of REM sleep behavior disorderDelphine Oudiette
Sleep Disorders Unit, Pitie Salpetriere Hospital, APHP, Paris, France
Mov Disord 27:428-31. 2012..The purpose of this study was to determine if there was a common pattern in movements during REM sleep behavior disorder (RBD)... - Risk factors for spinal cord lesions in dystonic cerebral palsy and generalised dystoniaEmilie Guettard
AP HP, Department of Neurology, Groupe Hospitalier Pitie Salpetriere, Paris, France
J Neurol Neurosurg Psychiatry 83:159-63. 2012..The aim of this study is to identify the risk factors and clinical characteristics of CM in patients with generalised dystonia, including dystonic CP... - Dystonic tremor caused by mutation of the glucose transporter gene GLUT1Anne Roubergue
AP HP, Service de Neuropediatrie, Hopital Trousseau, Paris, France
J Inherit Metab Dis 34:483-8. 2011..Patients who present with dystonic tremor, with or without mental retardation, seizures, movement disorders and/or a family history, should therefore be screened for GLUT1-DS... - Somatosensory cortical remodelling after rehabilitation and clinical benefit of in writer's crampJean Pierre Bleton
Université Paris Descartes EA 4055 ISERM U894, Paris, France
J Neurol Neurosurg Psychiatry 82:574-7. 2011..The authors hypothesise that prolonged tailored rehabilitation in WC may induce long-term plasticity phenomena, lateralised to the cortex controlling the dystonic hand... - PRRT2 mutations: a major cause of paroxysmal kinesigenic dyskinesia in the European populationAurélie Méneret
INSERM, UMRS 975, Hopital Pitie Salpetriere, Paris, France
Neurology 79:170-4. 2012..Mutations in the PRRT2 gene were recently identified in patients with PKD and ICCA. We studied the prevalence of PRRT2 mutations and characteristics of the patients in a European population of patients with PKD and ICCA... - Benign hereditary chorea: phenotype, prognosis, therapeutic outcome and long term follow-up in a large series with new mutations in the TITF1/NKX2-1 geneDomitille Gras
AP HP, Service de Neuropediatrie, Hopital Trousseau, Paris, France
J Neurol Neurosurg Psychiatry 83:956-62. 2012..The aim of the study was to refine the movement disorders phenotype. We also studied disease course and response to therapy in a large series of genetically proven patients... - Reinforcement learning and Gilles de la Tourette syndrome: dissociation of clinical phenotypes and pharmacological treatmentsYulia Worbe
Centre de Recherche de l Institut du Cerveau et de la Moelle Epiniere, Hopital Pitie Salpetriere, Paris, France
Arch Gen Psychiatry 68:1257-66. 2011..The heterogeneity of clinical phenotypes may relate to the dysfunction of distinct frontal cortex-basal ganglia circuits... - Myoclonus or tremor in orthostatism: an under-recognized cause of unsteadiness in Parkinson's diseaseSmaranda Leu Semenescu
Department of Neurology, Saint Antoine Hospital, AP HP, Paris, France
Mov Disord 22:2063-9. 2007..These observations show the usefulness of neurophysiological investigations for diagnosing and treating unexplained unsteadiness in Parkinson's disease... - Sleep and rhythm consequences of a genetically induced loss of serotoninSmaranda Leu-Semenescu
Sleep Disorders Unit, Pitie Salpetriere Hospital, AP HP Paris, France
Sleep 33:307-14. 2010..The non-motor symptoms are poorly recognized. In particular, the effects of brain serotonin deficiency on sleep have not been thoroughly studied... - Is obstructive sleep apnea a problem in Parkinson's disease?Valerie Cochen De Cock
Sleep Disorders Unit, Pitie Salpetriere Hospital, APHP, Paris, France
Sleep Med 11:247-52. 2010..Upper airway dysfunction in PD may promote obstructive sleep apnea. However, the frequency and clinical relevance of sleep-disordered breathing in PD remains unclear... - Myoclonus-dystonia: an updateKiyoka Kinugawa
INSERM U679, Pitie Salpetriere Hospital, Paris, France
Mov Disord 24:479-89. 2009..On the basis of a comprehensive literature search, this review summarizes current knowledge on M-D, with a focus on recent findings. We also propose modified diagnostic criteria and recommendations for clinical management... - Functional immaturity of cortico-basal ganglia networks in Gilles de la Tourette syndromeYulia Worbe
INSERM, Groupe Hospitalier Pitie Salpetriere, Assistance Publique Hopitaux de Paris, Centre d Investigation Clinique CIC 9503, Pôle des maladies du système nerveux, Paris, France
Brain 135:1937-46. 2012..They also support the hypothesis that distinct regions of cortico-basal ganglia networks contribute to the clinical heterogeneity of this syndrome... - Impaired modulation of motor cortex excitability by homonymous and heteronymous muscle afferents in focal hand dystoniaGeorge Lourenco
INSERM U731, Paris, France
Mov Disord 22:523-7. 2007..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... - Dopamine-dependent reinforcement of motor skill learning: evidence from Gilles de la Tourette syndromeStefano Palminteri
institut du cerveau et de la moelle épinière, Groupe Hospitalier Pitie Salpetriere, Paris, France
Brain 134:2287-301. 2011..These results support the hypothesis that overactive dopamine transmission leads to excessive reinforcement of motor sequences, which might explain the formation of tics in Gilles de la Tourette syndrome... - Predominant cortical dysfunction in Guadeloupean parkinsonismEmmanuelle Apartis
Department of Physiology, Saint Antoine Hospital, AP HP, Paris VI University, Paris, France
Brain 131:2701-9. 2008..This electrophysiological study, added to previous clinical, neuropsychological and neuroradiological studies, has enriched the characterization of Guadeloupean atypical parkinsonism, which thus appears to be a new clinical entity... - Normal and pathological gait: what we learn from Parkinson's diseaseDavid Grabli
Universite Pierre et Marie Curie Paris 6, CR Icm, UMR S975, Paris, France
J Neurol Neurosurg Psychiatry 83:979-85. 2012..In addition, we review recent evidence regarding functional neurosurgery for gait disorders in PD and propose new directions for future therapeutic research... - Restoration of normal motor control in Parkinson's disease during REM sleepValerie Cochen De Cock
Service de Neurologie, Hopital Saint Antoine, Paris, France
Brain 130:450-6. 2007..These movements would eventually be transmitted to lower motor neurons because of brainstem lesions interrupting the pontomedullary pathways which mediate the REM sleep atonia... - Dopaminergic deficit is not the rule in orthostatic tremorJean Marc Trocello
Department of Neurology, Lariboisiere Hospital, AP HP, Paris, France
Mov Disord 23:1733-8. 2008..c) 2008 Movement Disorder Society... - Impaired saccadic adaptation in DYT11 dystoniaCécile Hubsch
Assistance Publique Hopitaux de Paris, Pitie Salpetriere Hospital, Department of Neurology, Paris, France
J Neurol Neurosurg Psychiatry 82:1103-6. 2011..The authors investigated the association between sensorimotor adaptation, cerebellar dysfunction and the myoclonus-dystonia phenotype... - Speech disturbances in patients with dystonia or chorea due to neurometabolic disordersConstance Flamand-Rouvière
Service de Neurologie, CHU de Bicetre, AP HP, Le Kremlin Bicetre, France
Mov Disord 25:1605-11. 2010..These findings have important implications for speech rehabilitation, and may provide new insights into the pathophysiology of dystonia due to neurometabolic disorders... - Deep brain stimulation of the globus pallidus for generalized dystonia in GM1 Type 3 gangliosidosis: technical case reportEmmanuel Roze
Department of Neurology, Saint Antoine Hospital, Paris, France
Neurosurgery 59:E1340; discussion E1340. 2006..We performed bilateral pallidal stimulation in a patient with GM1 gangliosidosis and report the 12-month postoperative course... - Hallucinations in narcolepsy with and without cataplexy: contrasts with Parkinson's diseaseSmaranda Leu-Semenescu
Sleep Disorders Unit, Pitie Salpetriere Hospital, AP HP, Paris 6 University, Paris, France
Sleep Med 12:497-504. 2011..partial (PD, narcolepsy without cataplexy) hypocretin-1 deficiency... - The COMT Val158Met polymorphism affects the response to entacapone in Parkinson's disease: a randomized crossover clinical trialJean Christophe Corvol
INSERM French National Institute of Medical Research and Health, Clinical Investigation Center CIC 9503, Pitie Salpetriere Hospital, Paris, France
Ann Neurol 69:111-8. 2011..The objective of this study was to determine the response to entacapone in COMT(HH) and COMT(LL) PD patients... - Exhaustive analysis of BH4 and dopamine biosynthesis genes in patients with Dopa-responsive dystoniaFabienne Clot
AP HP, Département de génétique et cytogénétique, Groupe Hospitalier Pitie Salpetriere, Paris, France
Brain 132:1753-63. 2009..Although the yield of mutations exceeds 80% in pure Dopa-responsive dystonia and Dopa-responsive dystonia-plus syndromes groups, the genes involved are clearly different: GCH1 in the former and TH and SPR in the later... - Riluzole treatment, survival and diagnostic criteria in Parkinson plus disorders: the NNIPPS studyGilbert Bensimon
Departement de Pharmacologie Clinique, Hopital de la Pitie Salpetriere, Assistance Publique Hôpitaux de Paris and UPMC University Paris 06, UMR 7087, Paris, France
Brain 132:156-71. 2009..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... - Clinical analysis in familial cortical myoclonic tremor allows differential diagnosis with essential tremorFrederic Bourdain
Department of Neurology, Hopital Saint Antoine, Paris, France
Mov Disord 21:599-608. 2006..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... - Deep brain stimulation for hyperkinetics disorders: dystonia, tardive dyskinesia, and ticsMarie Laure Welter
AP HP, Fédération des Maladies du Système Nerveux, Université Pierre et Marie Curie Paris, Groupe Hospitalier Pitie Salpetriere, Paris, France
Curr Opin Neurol 23:420-5. 2010..This review focuses on new insights in deep brain stimulation (DBS) for patients with hyperkinetic movement disorders: dystonia, tardive dyskinesia and Gille de la Tourette's syndrome, during the last 18 months... - Propriospinal myoclonus: utility of magnetic resonance diffusion tensor imaging and fiber trackingEmmanuel Roze
Department of Neurology, Saint Antoine Hospital, AP HP, Paris, France
Mov Disord 22:1506-9. 2007..Tract-specific analysis may provide new insights into the pathophysiology of propriospinal myoclonus... - Repetitive behaviours in patients with Gilles de la Tourette syndrome: tics, compulsions, or both?Yulia Worbe
Centre d Investigation Clinique INSERM CIC 9503, Pôle des maladies du système nerveux, Assistance Publique Hopitaux de Paris, Groupe Hospitalier Pitie Salpetriere, Universite Pierre et Marie Curie Paris 6, Paris, France
PLoS ONE 5:e12959. 2010..Repetitive behaviours (RB) in patients with Gilles de la Tourette syndrome (GTS) are frequent. However, a controversy persists whether they are manifestations of obsessive-compulsive disorder (OCD) or correspond to complex tics... - Long-term follow-up and adult outcome of 6-pyruvoyl-tetrahydropterin synthase deficiencyEmmanuel Roze
Department of Neurology, Saint Antoine Hospital, Paris, France, and Division of Clinical Chemistry and Biochemistry, University Children s Hospital, Zurich, Switzerland
Mov Disord 21:263-6. 2006..This report illustrates the role of dopamine modulation in motor, psychiatric, and endocrine functions... - Head tremor in Parkinson's diseaseEmmanuel Roze
Department of Neurology, Saint Antoine Hospital, Assistance Publique Hopitaux de Paris AP HP, Paris, France
Mov Disord 21:1245-8. 2006..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... - RAD51 haploinsufficiency causes congenital mirror movements in humansChristel Depienne
INSERM, U CRICM, Hopital Pitie Salpetriere, Paris, France
Am J Hum Genet 90:301-7. 2012..These findings open a new field of investigation for researchers attempting to unravel the molecular pathways underlying bimanual motor control in humans... - [Medical aspects of the medical treatment in dystonia]David Grabli
Neurologie et Institut du Cerveau et de la Moelle Epinière, GH Pitié Salpétrière, 47 83 Boulevard de l Hôpital 75013 Paris
Bull Acad Natl Med 195:935-50. 2011..This review provides a short overview of available treatments and proposes a basic therapeutic strategy for dystonic patients... - Time-frequency analysis reveals decreased high-frequency oscillations in writer's crampZoé Cimatti
Pierre and Marie Curie University, Paris, France
Brain 130:198-205. 2007..This supports the assumption that abnormal HFOs reflect pathophysiological mechanisms occurring in focal dystonia, possibly resulting from a dysfunction of somatosensory processing... - Parkinson's disease patients show reduced cortical-subcortical sensorimotor connectivityMichael Sharman
UMR S975, CRICM INSERM UPMC Paris 6, Paris, Ile de France, France CENIR, ICM, Hopital Pitie Salpetriere, Paris, France
Mov Disord 28:447-54. 2013..Increases in functional connectivity in other cortico-basal ganglia thalamocortical circuits may be indicative of compensatory effects in response to system deficits elsewhere. © 2012 Movement Disorder Society... - Large-scale screening of the Gaucher's disease-related glucocerebrosidase gene in Europeans with Parkinson's diseaseSuzanne Lesage
Universite Pierre et Marie Curie Paris 6, Centre de Recherche de l Institut du Cerveau et de la Moelle Epiniere, UMR S975, and Department of Genetics and Cytogenetics, Pitie Salpetriere Hospital, Paris, France
Hum Mol Genet 20:202-10. 2011..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... - Spectrum of movement disorders associated with glutaric aciduria type 1: a study of 16 patientsCyril Gitiaux
Universite Paris Descartes, Service de Neurologie Pediatrique et Maladies Metaboliques, Hopital Necker Enfants Malades, AP HP, Paris, France
Mov Disord 23:2392-7. 2008..The types and outcome of movement disorders in this setting should be taken into consideration during rehabilitation and for patient selection and evaluation in therapeutic trials... - Urodynamic analysis in multiple system atrophy: characterisation of detrusor-sphincter dyssynergiaFrederic Bloch
AP HP, centre d investigation clinique, Universite Pierre et Marie Curie Paris 6, Groupe Hospitalier Pitie Salpetriere, 75013, Paris, France
J Neurol 257:1986-91. 2010..This new approach may prove useful for differential diagnosis of parkinsonian syndromes, and especially MSA... - Risk factors of multiple system atrophy: a case-control study in French patientsJean Sébastien Vidal
INSERM U708, Neuroepidemiology, Paris, France
Mov Disord 23:797-803. 2008..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... - Interictal myoclonus with paroxysmal kinesigenic dyskinesiaValerie Cochen De Cock
Service de Neurologie, Hopital Saint Antoine, Assistance Publique Hopitaux de Paris, France
Mov Disord 21:1533-5. 2006..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... - How much phenotypic variation can be attributed to parkin genotype?Ebba Lohmann
INSERM U289, Hopital de la Salpetriere, Paris, France
Ann Neurol 54:176-85. 2003..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... - FXTAS: new insights and the need for revised diagnostic criteriaEmmanuelle Apartis
AP HP, Paris, France
Neurology 79:1898-907. 2012..We delineate the clinical, neurophysiologic, and morphologic characteristics of FXTAS... - Myoclonus and dystonia in cerebrotendinous xanthomatosisJulien Lagarde
AP HP Département de Neurologie, Hopital de la Salpetriere, Paris, France
Mov Disord 27:1805-10. 2012..Myoclonic dystonia has been reported on in the setting of various neurometabolic diseases. Anecdotal reports describe movement disorders associated with CTX, but no dystonia with myoclonic events... - Myoclonus-dystonia due to maternal uniparental disomyEmilie Guettard
Service de Neurologie, Hopital Saint Antoine, AP HP, Paris, France
Arch Neurol 65:1380-5. 2008..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... - Bilateral deep-brain stimulation of the globus pallidus in primary generalized dystoniaMarie Vidailhet
Department of Neurology, Saint Antoine Hospital, Paris, France
N Engl J Med 352:459-67. 2005..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... - Alpha-synuclein gene rearrangements in dominantly inherited parkinsonism: frequency, phenotype, and mechanismsPablo Ibanez
Institut National de la Sante et de la Recherche Medicale INSERM, Unité Mixte de Recherche en Santé UMR _S679 Neurologie and Thérapeutique Expérimentale, F 75013, Paris, France
Arch Neurol 66:102-8. 2009..The aim of this study was to assess the frequency and phenotype of SNCA rearrangements in a large series of families with typical or atypical AD parkinsonism... - REM sleep behavior disorder and REM sleep without atonia in patients with progressive supranuclear palsyIsabelle Arnulf
Fédération des Pathologies du Sommeil and Upres EA 2397, Paris, France
Sleep 28:349-54. 2005.... - Distinct structural changes underpin clinical phenotypes in patients with Gilles de la Tourette syndromeYulia Worbe
Centre d Investigation Clinique INSERM CIC 9503, Fédération des Maladies du Système Nerveux, Groupe Hospitalier Pitie Salpetriere, AssistancePublique Hôpitaux de Paris, Paris, France
Brain 133:3649-60. 2010.... - Nonmotor symptoms in Parkinson's disease in 2012: relevant clinical aspectsAnne Marie Bonnet
APHP, Department of Neurology, Hospital Pitié Salpêtrière, Paris, France
Parkinsons Dis 2012:198316. 2012..NMSs play a large role in degradation of quality of life. More relevant NMSs are described in this review, mood disorders, impulse control disorders, cognitive deficits, hallucinations, pain, sleep disorders, and dysautonomia... - Long-term outcome of 32 patients with chorea and systemic lupus erythematosus or antiphospholipid antibodiesPeggy Reiner
Service de Neurologie, AP HP, Hopital Lariboisiere, Paris, France
Mov Disord 26:2422-7. 2011..The aim of this work was to describe chorea during systemic lupus erythematosus or antiphospholipid antibodies and its long-term outcome... - Psychogenic parkinsonism: a combination of clinical, electrophysiological, and [(123)I]-FP-CIT SPECT scan explorations improves diagnostic accuracySandrine Benaderette
Department of Neurology, Saint-Antoine Hospital, Paris, France
Mov Disord 21:310-7. 2006..A combination of clinical, electrophysiological, and [(123)I]-FP-CIT SPECT scan explorations improves diagnostic accuracy in order to distinguish PP from PP + PD... - Evidence for the re-enactment of a recently learned behavior during sleepwalkingDelphine Oudiette
Sleep Disorders Unit, Pitie Salpetriere Hospital, APHP, Paris, France
PLoS ONE 6:e18056. 2011..Our observation also suggests that the study of such sleep disorders may provide unique and critical information about cognitive functions operating during sleep... - Parkin mutations are frequent in patients with isolated early-onset parkinsonismMagali Periquet
INSERM U289, Hopital de la Salpetriere, Paris, France
Brain 126:1271-8. 2003..However, a single case presenting with cerebellar ataxia several years before typical parkinsonism extends the spectrum of parkin related-disease... - Psychiatric and cognitive difficulties as indicators of juvenile huntington disease onset in 29 patientsPascale Ribai
Department of Genetics, Cytogenetics and Embryology, Salpetriere Hospital, 75013 Paris, France
Arch Neurol 64:813-9. 2007..In general, precise age at onset is difficult to assess in HD because of insidious onset and anosognosia. Onset of motor difficulty signs is usually used to define age at onset... - Dystonia and parkinsonism in GM1 type 3 gangliosidosisEmmanuel Roze
Department of Neurology, Saint Antoine Hospital AP HP Paris, France
Mov Disord 20:1366-9. 2005..GM1 gangliosidosis must be considered as a cause of early-onset generalized dystonia, particularly in patients with short stature and skeletal dysplasia... - Lack of inhibitory interaction between somatosensory afferent inputs and intracortical inhibitory interneurons in focal hand dystoniaMarion Simonetta-Moreau
U455 INSERM, Federation de Neurologie, CHU Purpan, Toulouse, France
Mov Disord 21:824-34. 2006..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... - Effects of internal clock and memory disorders on duration reproductions and duration productions in patients with Parkinson's diseaseSeverine Perbal
Unité de Neurosciences Cognitives et Imagerie Cérébrale, CNRS UPR 640, Hopital de la Salpetriere, Paris, France
Brain Cogn 58:35-48. 2005..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... - Myoclonus and generalized digestive dysmotility in triple A syndrome with AAAS gene mutationAnne Roubergue
Department of Neurology, Hopital Saint Antoine, AP HP, Paris, France
Mov Disord 19:344-6. 2004..These features, not previously described, illustrate an extension of the cerebral and digestive neurological involvement in this syndrome... - Micrographia secondary to lenticular lesionsPascal Derkinderen
Department of Neurology, , Paris, France
Mov Disord 17:835-7. 2002..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... - Dystonia: lessons from brain mappingSabine Meunier
Clinical Neurophysiology, Hopital de la Salpetriere, Paris, France
Neuroscientist 9:76-81. 2003..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...