Research Topics
Species | Pierre LabaugeSummaryCountry: France Publications
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Publications
Genetics of cavernous angiomasPierre Labauge
INSERM, U740, Paris, France
Lancet Neurol 6:237-44. 2007..These recent developments in clinical and molecular genetics have given us useful information about clinical care and genetic counselling and have broadened our understanding of the mechanisms of this disorder...- Familial, adult onset form of leukoencephalopathy with brain stem and spinal cord involvement: inconstant high brain lactate and very slow disease progressionPierre Labauge
Eur Neurol 58:59-61. 2007 
Outcome in 53 patients with spinal cord cavernomasPierre Labauge
Service de Neurologie, CHU de Nimes, 30029 France
Surg Neurol 70:176-81; discussion 181. 2008..Prevalence of cerebral cavernomas in the general population is close to 0.5%. In contrast, SCCs are rare. The aim of this study was to determine the outcome of SCC in a large sample of patients...
A MANBA mutation resulting in residual beta-mannosidase activity associated with severe leukoencephalopathy: a possible pseudodeficiency variantFrédérique Sabourdy
Laboratoire de Biochimie Maladies Métaboliques, Institut Fédératif de Biologie, CHU Purpan, Toulouse, France
BMC Med Genet 10:84. 2009..These are all null mutations or missense mutations that abolish beta-mannosidase activity. In this study, we characterized the molecular defect of a new case of beta-mannosidosis, presenting with a severe neurological disorder...- [CACH/VWM syndrome and leucodystrophies related to EIF2B mutations]P Labauge
Service de Neurologie, CHU de Montpellier Nîmes, Hopital Caremeau, 30029 Nimes Cedex
Rev Neurol (Paris) 163:793-9. 2007..No specific treatment exists except the "prevention" of cellular stress. Corticosteroids sometimes proved to be useful in acute phases. Prognosis seems to correlate with the age of onset, the earliest forms being more severe... - [Genetic demyelinating diseases]Pierre Labauge
Departement de Neurologie, CHU de Montpellier Nîmes, Place du Pr R Debré, 30029 Nimes Cedex, France
Presse Med 39:363-70. 2010..Damage tothe posterior spinal cord suggests leukoencephalopathy with damage to the brainstem and cord marrow and is accompanied by elevated lactate (LBSL)... - Dominant form of vanishing white matter-like leukoencephalopathyPierre Labauge
Service de Neurologie, CHU Montpellier Nimes, Hopital Caremeau, Nimes, France
Ann Neurol 58:634-9. 2005.... - Natural history of adult-onset eIF2B-related disorders: a multi-centric survey of 16 casesPierre Labauge
CHU Nimes, Service de Neurologie, Hopital Caremeau, place du Professeur Debré, 30029 Nîmes Cedex 4, France
Brain 132:2161-9. 2009..Functional and/or cognitive prognosis remains severe. Molecular diagnosis is facilitated for these forms by the screening of the two recurrent p.Arg113His-eIF2Bepsilon and p.Glu213Gly-eIF2Bbeta mutations, positive in 86% of cases... - Magnetic resonance findings in leucodystrophies and MSP Labauge
Department of Neurology, CHU Montpellier Nimes, 30 029 Nimes Cedex, France
Int MS J 16:47-56. 2009..The first part will focus on MR patterns of vascular and nonvascular adult leucoencephalopathies, the second part on MR findings in MS and MS-related diseases. Specific MR patterns in both diseases will be summarized and compared... - [Familial forms of central nervous system cavernomas: from recognition to gene therapy]P Labauge
Service de Neurologie, CHU Caremeau, place du Professeur Robert Debré, 30029 Nimes cedex 09, France
Neurochirurgie 53:152-5. 2007..Familial forms may be considered not only as a neurological but as a systemic disease for which global management with a genetic counseling should be considered. Gene therapy is not today available, but perhaps in the future... - Clinical and radiological characteristics in multiple sclerosis patients with large cavitary lesionsDimitri Renard
Department of Neurology, Centre Hospitalier Universitaire, Nimes, France
Eur Neurol 68:156-61. 2012.... - Brain MRI findings in long-standing and disabling multiple sclerosis in 84 patientsDimitri Renard
Department of Neurology, CHU Nimes, Hopital Caremeau, Place du Pr DEBRE, 30029 Nîmes Cedex 4, France
Clin Neurol Neurosurg 112:286-90. 2010..To look for cerebral white matter MRI changes in patients with long-standing and disabling MS... - Optical coherence tomography in neuromyelitis opticaJerome De Seze
Department of Neurology, Strasbourg University, Hopital Civil, 1 Place de l Hopital, BP 426, 67091 Strasbourg Cedex, France
Arch Neurol 65:920-3. 2008..This pathologic entity may induce severe disability, including visual loss and paraplegia. Other than clinical follow-up, there is no marker for severity of the disease... - Radiation therapy-related ataxia associated with FDG-PET cerebellar hypometabolismDimitri Renard
Department of Neurology, CHU Nimes, Hopital Caremeau, Nîmes Cedex 4, France
Acta Neurol Belg 110:100-2. 2010..FDG-PET abnormalities seem to correlate better with clinical signs related to radiation-associated brain toxicity than MRI... - Brain FDG-PET changes in ALS and ALS-FTDDimitri Renard
Department of Neurology, CHU Nimes, Hopital Caremeau, 30029 Nîmes Cedex 4, France
Acta Neurol Belg 111:306-9. 2011..In ALS-FTD, extensive temporal hypometabolism is seen in addition to severe diffuse frontal hypometabolism... - Subacute combined degeneration of the spinal cord caused by nitrous oxide anaesthesiaDimitri Renard
Department of Neurology, CHU Nimes, Hopital Caremeau, Place du Pr DEBRE, 30029 Nîmes Cedex 4, France
Neurol Sci 30:75-6. 2009..Subacute combined degeneration (SCD) of the spinal cord is characterised by degeneration of the posterior and lateral columns. We report a case of SCD associated with nitrous oxide anaesthesia... - Cognitive functions in neuromyelitis opticaFrederic Blanc
Department of Neurology, Strasbourg University, Alsace, France
Arch Neurol 65:84-8. 2008..To date, cognitive functions have never been investigated in NMO... - Long-term outcomes of CLIPPERS (chronic lymphocytic inflammation with pontine perivascular enhancement responsive to steroids) in a consecutive series of 12 patientsGuillaume Taieb
Department of Neurology, Centre Hospitalier Universitaire, Nimes, France
Arch Neurol 69:847-55. 2012..Chronic lymphocytic inflammation with pontine perivascular enhancement responsive to steroids (CLIPPERS) is a central nervous system inflammatory disease... - Ictal urge to defecate associated with a right-sided mesial temporal cavernomaGuillaume Taieb
Department of Neurology, CHU Nimes, Hopital Caremeau, Place du Pr DEBRE, 30029 Nîmes Cedex 4, France
Epilepsy Behav 24:272-3. 2012..In our patient, the ictal urge to defecate seems to involve the non-dominant hemisphere and seems to probably be affecting the autonomic network... - Rapid onset frontal leukodystrophy with decreased diffusion coefficient and neuroaxonal spheroidsElisabeth Maillart
Federation of Nervous System Diseases, Hopital de la Salpetriere, Assistance Publique Hopitaux de Paris, Universite Pierre et Marie Curie Paris VI, 47 Boulevard de l Hopital, 75651 Paris Cedex 13, France
J Neurol 256:1649-54. 2009..We found similar cases in the literature and propose that they represent a distinct entity within the group of LNS. Further studies will be required to identify its molecular basis... - [Myasthenia gravis in the elderly: diagnosis, comorbidity and course: 45 cases]Thibaut Fraisse
Service de médecine interne gériatrique, Centre Hospitalier Universitaire Caremeau, Nimes
Presse Med 36:9-14. 2007..Analyze the clinical presentation, laboratory indicators, and outcome of patients with late-onset myasthenia gravis (after 60 years)... - [Retinal atrophy using optical coherence tomography (OCT) in 15 patients with multiple sclerosis and comparison with healthy subjects]L Jeanjean
Consultation de neuro ophtalmologie, CHU Caremeau, place du Professeur Debré, 30900 Nimes, France
Rev Neurol (Paris) 164:927-34. 2008..Retinal nerve fiber layer (RNFL) imaging by optical coherence tomography (OCT) seems to be a non-invasive way of detecting optical axonal loss following optic neuritis... - Inflammatory-like presentation of CADASIL: a diagnostic challengeNicolas Collongues
Department of Neurology, Strasbourg University Hospital, 1, Avenue Moliere, 67000, Strasbourg, France
BMC Neurol 12:78. 2012..From a national registry of 268 patients with adult-onset leukodystrophy, we identified two patients with an atypical presentation of CADASIL without co-occurrence of another systemic disease... - Increased risk of multiple sclerosis relapse after in vitro fertilisationLaure Michel
Service de Neurologie, Centre Hospitalier Universitaire de Nantes, Hopital Laennec, Nantes Cedex, France
J Neurol Neurosurg Psychiatry 83:796-802. 2012..The objective of this study was to determine if there was an increased risk of developing exacerbations in women with MS after in vitro fertilisation (IVF)... - Fluorine 18-labeled fluorodeoxyglucose positron emission tomography in familial Creutzfeldt-Jakob diseaseDimitri Renard
Department of Neurology, , , Place du Pr Debr, , France
Arch Neurol 65:1390-1. 2008 - Acute fulminant demyelinating disease: a descriptive study of 60 patientsJerome De Seze
Departement de Neurologie, Hopital Civil, 1 Place de l Hopital, BP 426, 67091 Strasbourg Cedex, France
Arch Neurol 64:1426-32. 2007..To date, no clear criteria exist for ADEM, and the risk of subsequent evolution to multiple sclerosis (MS) remains unknown... - Interest of CSF biomarker analysis in possible cerebral amyloid angiopathy cases defined by the modified Boston criteriaDimitri Renard
Department of Neurology, CHU Nimes, Hopital Caremeau, Place du Pr DEBRE, 30029, Nimes Cedex 9, France
J Neurol 259:2429-33. 2012..Especially Aβ40 levels seem to be of clinical interest to differentiate CAA from AD. CSF biomarkers have to be analyzed in a larger number of CAA patients, and compared to patients with other disorders causing LH or SS... - Cannabis-related myocardial infarction and cardioembolic strokeDimitri Renard
Department of Neurology, CHU Nimes, Hopital Caremeau, Nimes, France
J Stroke Cerebrovasc Dis 21:82-3. 2012..This is the first case of cannabis-associated stroke of probable cardioembolic origin... - Distal myasthenia gravisDimitri Renard
Department of Neurology, CHU Nimes, Hopital Caremeau, Nîmes Cedex 4, France
Acta Neurol Belg 108:107-8. 2008..MG with predominant distal limb involvement is uncommon. We present a case of MG with distal, asymmetrical, upper limb involvement, seven years after disease onset... - Painful camptocormia: the relevance of shaking your patient's handArnaud Dupeyron
Département de Médecine Physique et Réadaptation, Centre Hospitalo Universitaire de Montpellier Nîmes, CHU Caremeau, place du Pr Robert Debré, 30029 Nimes cedex 09, France
Eur Spine J 19:S87-90. 2010..Axial weakness and muscle atrophy, validated by CT-scan imaging, are discussed independent of the concomitant pathology (Parkinson, myopathy)... - Polyarteritis nodosa associated with essential mixed cryglobulinemia revealed by subarachnoid hemorrhageGuillaume Taieb
Department of Neurology, Nîmes University Medical Center, Caremeau Hospital, France
Intern Med 50:2905-9. 2011..A pathophysiological relationship between cryoglobulin and PAN can be suspected. Mixed cryoglobulinemia may trigger vasculitis with PAN features, possibly explaining the lack of treatment response... - Diploic epidermoid cyst associated with focal brain pseudohypertrophyDimitri Renard
Department of Neurology, CHU Nimes, Hopital Caremeau, Nîmes Cedex 4, France
Acta Neurol Belg 111:56-8. 2011..e., retraction due to age-related brain atrophy). This aspect of focal brain pseudohypertrophy can potentially be seen in all chronic primary cranial bone lesions associated with meningeal involvement... - Relapsing inflammatory optic neuritis: is it neuromyelitis optica?J de Seze
Department of Neurology, Strasbourg University, France
Neurology 70:2075-6. 2008 - Primary brain amyloidoma: long-term follow-upDimitri Renard
Department of Neurology, , , Place du Pr Debr, , France
Arch Neurol 65:979-80. 2008 - Alpha-fodrin autoantibodies in the differential diagnosis of MS and Sjögren syndromeJ de Seze
Department of Neurology, University of Lille, France
Neurology 61:268-9. 2003 - [Social handicap at the onset of the multiple sclerosis]A Creange
Service de Neurologie, CHU Albert Chenevier Henri Mondor, AP HP, Université Paris XII et Réseau SINDEFI SEP, Creteil, France
Rev Neurol (Paris) 165:S167-72. 2009..Since the onset of the disease, social events are very frequent: jobless and decrease of salaries (50% of the cases), divorce (10%), daily help (12%)... - [Paroxysmal kinesigenic dyskinesia: a channelopathy? Study of 19 cases]G Fourcade
Service de Neurologie, CHU Caremeau, place du Professeur Robert Debré, 30029 Nimes Cedex, France
Rev Neurol (Paris) 165:164-9. 2009..The favorable natural history, the episodic nature of the symptoms and their sensitivity to anticonvulsant therapy suggest channelopathy as a mechanism of PKD... - [A retrospective study of six patients with late-onset Pompe disease]A Saux
Service de neurologie et centre de références des maladies neuromusculaires, CHU Caremeau, 2, avenue Pr Debré, 30029 Nimes Cedex, France
Rev Neurol (Paris) 164:336-42. 2008..The diagnosis is based on a low level of GAA either in the muscle biopsy or in the leucocytes. We report six cases of late-onset Pompe's disease from the Languedoc-Roussillon district... - Lingual atrophy and dolichoectatic arteryG Castelnovo
Department, , CHU Nimes, 2 Av. du prof Debrie, Nimes, France
Neurology 61:1121. 2003 - Autosomal dominant leukodystrophy and childhood ataxia with central nervous system hypomyelination syndromePierre Labauge
Ann Neurol 60:485; author reply 485-6. 2006 - Ovarian failure related to eukaryotic initiation factor 2B mutationsAnne Fogli
INSERM Unité Mixte de Recherche 384, Faculte de Medecine, Clermont Ferrand, France
Am J Hum Genet 72:1544-50. 2003..The correlation we observed between the age at onset of the neurological deterioration and the severity of OF suggests a common pathophysiological pathway... - OPA1 mutations induce mitochondrial DNA instability and optic atrophy 'plus' phenotypesPatrizia Amati-Bonneau
Département de Biochimie et Génétique, Centre Hospitalier Universitaire d Angers, Angers, France
Brain 131:338-51. 2008..Our results show that certain OPA1 mutations exert a dominant negative effect responsible for multi-systemic disease, closely related to classical mitochondrial cytopathies, by a mechanism involving mtDNA instability... - Prevalence of dentatorubral-pallidoluysian atrophy in a large series of white patients with cerebellar ataxiaIsabelle Le Ber
, , , , , 75651 Paris Cedex 13, France
Arch Neurol 60:1097-9. 2003..In both familial and sporadic cases, molecular testing for DRPLA could be restricted to patients with ataxia with one of the following features: chorea, dementia, or myoclonic epilepsy... - Genes involved in leukodystrophies: a glance at glial functionsOdile Boespflug-Tanguy
GReD, INSERM U931 CNRS 6247, Faculte de Medecine, 28, Place Henri Dunant, 63000 Clermont Ferrand, France
Curr Neurol Neurosci Rep 8:217-29. 2008..It focuses particularly on the genes involved in the hypomyelinated and vacuolating leukodystrophies, which provide new insights into the understanding of myelin formation and WM homeostasis...