B Marro

Unité Inserm U1077, Caen, Lower Normandy, France

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Publications (51)166.16 Total impact

  • Revue Neurologique 04/2014; 170:A162. DOI:10.1016/j.neurol.2014.01.427 · 0.60 Impact Factor
  • 04/2014; 95(4). DOI:10.1016/j.diii.2013.10.007
  • Revue Neurologique 04/2014; 170:A49-A50. DOI:10.1016/j.neurol.2014.01.105 · 0.60 Impact Factor
  • Revue Neurologique 04/2013; 169:A96. DOI:10.1016/j.neurol.2013.01.229 · 0.60 Impact Factor
  • La Presse Médicale 03/2013; 42(3):373–374. DOI:10.1016/j.lpm.2012.02.002 · 1.17 Impact Factor
  • 01/2013; DOI:10.1016/j.jradio.2013.08.010
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    ABSTRACT: IntroductionIntramedullary spinal cord abscesses are rare, frequently associated with meningitis, sometimes with epidural abscesses. They are frequently responsible for paraplegia. Staphylococcus aureus is the predominant organism. MRI shows an intramedullary collection giving a low-intensity signal on T1-weighted images with peripheral contrast uptake on enhanced TI-weighted studies and a high-intensity signal on T2-weighted images with generally extended adjacent medullary edema. They may be multiple.Case reportWe report the case of a man who presented meningitis with intramedullary and epidural abscesses. The number of the lesions did not allow chirurgical drainage. The paraplegia did not resolve despite appropriate antibiotic therapy.Conclusion Appropriate antibiotic therapy and early surgical drainage, if feasible, are key factors for better outcome and prognosis.
    Revue Neurologique 11/2012; 168(11):868–872. DOI:10.1016/j.neurol.2011.10.010 · 0.60 Impact Factor
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    ABSTRACT: INTRODUCTION: Intramedullary spinal cord abscesses are rare, frequently associated with meningitis, sometimes with epidural abscesses. They are frequently responsible for paraplegia. Staphylococcus aureus is the predominant organism. MRI shows an intramedullary collection giving a low-intensity signal on T1-weighted images with peripheral contrast uptake on enhanced TI-weighted studies and a high-intensity signal on T2-weighted images with generally extended adjacent medullary edema. They may be multiple. CASE REPORT: We report the case of a man who presented meningitis with intramedullary and epidural abscesses. The number of the lesions did not allow chirurgical drainage. The paraplegia did not resolve despite appropriate antibiotic therapy. CONCLUSION: Appropriate antibiotic therapy and early surgical drainage, if feasible, are key factors for better outcome and prognosis.
    Revue Neurologique 05/2012; · 0.60 Impact Factor
  • Revue Neurologique 04/2012; 168:A98. DOI:10.1016/j.neurol.2012.01.250 · 0.60 Impact Factor
  • La Presse Médicale 03/2012; · 1.17 Impact Factor
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    ABSTRACT: Introduction La présence d’inclusions intranucléaires est associée à diverses affections neurodégénératives. Objectif Décrire un nouveau phénotype de maladie neurologique familiale avec inclusions cérébrales intranucléaires. Méthodes Les données furent obtenues chez 29 individus, sur 4 générations, 14 furent directement interrogés, 9 examinés et 12 eurent une IRM. Résultats La transmission horizontale et la présence de consanguinité étaient en faveur d’une maladie autosomique récessive. Trois soeurs d’une fratrie de 6 individus (4F/2H) étaient atteintes. Les autres membres de la fratrie et l’ensemble des autres générations étaient indemnes de symptômes neurologiques, hormis un frère ayant présenté un infarctus cérébral cortical sans étiologie. Les signes neurologiques associaient : 1) des migraines avec aura ; 2) des pseudo-AVC après 50 ans avec installation aiguë de déficits neurologiques focaux (HLH, hémiplégie, aphasie) avec parfois confusion (tableau d’encéphalopathie), régressant souvent sans séquelle sur plusieurs semaines, sans facteur causal, et sans argument pour un mécanisme épileptique ; 3) un syndrome démentiel sous-cortical débutant à 50 ans chez 2 patientes ; 4) une neuropathie axonale sensitive mineure chez 2 patientes. L’imagerie cérébrale révéla : 1) une leucoencéphalopathie extensive, sus-tentorielle, bilatérale et symétrique, épargnant la substance grise, sans lacune ni microhémorragie ; 2) une atrophie corticale globale ; 3) des séquelles focales corticales prédominant dans les régions postérieures, pariétales et occipitales ; 4) des hypersignaux multifocaux des fibres en U sur la séquence pondérée en diffusion ; 5) une hypervascularisation unilatérale hémisphérique transitoire sur l’ARM cérébrale, contemporaine des pseudo-AVC. Le bilan paraclinique, avec analyse biologique exhaustive, incluant une analyse du LCR, la recherche de maladie métabolique héréditaire, et deux biopsies neuromusculaires, était normal. Les données neuropathologiques issues d’un cas autopsique, ont montré au niveau cérébral, la présence d’inclusions intranucléaires, éosinophiles, ubiquitinées, FUS et SUMO + pour certaines, TDP 43 –, PML-, prédominant dans les cellules gliales (astrocytes et oligodendrocytes), mais également plus rarement au niveau des neurones et dans les cellules endothéliales. Ces inclusions étaient également présentes en extracérébral (cardiomyocytes, tubules rénaux…). Des inclusions ont été retrouvées sur une biopsie cutanée d’une malade. Les analyses génétiques (analyses complémentaires en cours) ne montrèrent aucune mutation des gènes CADASIL, X fragile, de mitochondriopathies (MELAS, MERFF, POL G, TWINCKLE) ou du gène FUS. Conclusion Ce nouveau phénotype vient élargir le spectre des maladies neurologiques avec inclusions intranucléaires, d’identification récente. Il vient également s’ajouter à la liste des pathologies à évoquer devant une leucoencéphalopathie familiale avec pseudo-AVC.
    Revue Neurologique 01/2012; 168:S11–S12. DOI:10.1016/S0035-3787(12)70027-9 · 0.60 Impact Factor
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    ABSTRACT: Intravenous rt-PA is effective in hyperacute ischemic stroke (HAIS) but is administered only in few patients. To report the thrombolysis rate in our stroke unit using a stroke code (SC) protocol with a prenotification system and to analyze the SC impact on the thrombolysis rate in a systematic review. We report, from 2005 to 2009, the intravenous rt-PA rate in our prospective registry of hyperacute strokes suspicions. The systematic review was conducted in searching PubMed and EMBASE for prospective studies reporting thrombolysis rates and their use of a SC. We categorized SC between those with a prenotification by the Emergency Medical Services and those with only an in-hospital SC system. Among the 1450 stroke patients hospitalized in our stroke unit, 349 were admitted via the SC protocol as suspicions of hyperacute strokes. Intravenous rt-PA rates were: 12.9% of the ischemic strokes, 36% of the suspicions of hyperacute strokes and 59.6% of the HAIS. We found 23 studies reporting thrombolysis rates ranging from 10.3% to 58% of HAIS. Ten studies gave data concerning the use of a SC in case of HAIS. Thrombolysis rate was higher in hospitals with a prenotification system (54.7%) compared with both those with no specific organization (18.2%) (OR=5.43, 95% CI: 3.84-7.73) and those with an in-hospital restricted SC (37.9%) (OR=1.97, 95% CI: 1.53-2.54). Thrombolysis rate of HAIS is improved by a SC, especially when a prenotification system of thrombolysis candidates by Emergency Medical Services to the stroke unit is used.
    Journal of the neurological sciences 11/2011; 314(1-2):120-5. DOI:10.1016/j.jns.2011.10.009 · 2.26 Impact Factor
  • La Presse Médicale 11/2010; 40(4 Pt 1):450-1. DOI:10.1016/j.lpm.2010.09.021 · 1.17 Impact Factor
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    ABSTRACT: To evaluate whether very early neurologic improvement (VENI) after intravenous (i.v.) recombinant tissue plasminogen activator (rt-PA) perfusion in patients with acute ischemic stroke (AIS) predicts favorable outcome at 3 months. Retrospective analysis of prospective data. Stroke registry at the Stroke Unit, Tenon University Hospital. We analyzed consecutive patients with AIS treated with i.v. rt-PA between November 11, 2002, and December 24, 2007. VENI at 1 hour was defined as a National Institute of Health Stroke Scale score of 0 at the end of rt-PA perfusion or an improvement of 5 or more points compared with baseline. Favorable outcome was defined as a modified Rankin Scale score of 1 or less at 3 months. Of 120 patients with AIS treated with i.v. rt-PA, 22 (18.3%) had VENI after i.v. rt-PA perfusion. Favorable outcome was observed in 15 patients with VENI (68.2%) and in 29 patients without VENI (29.6%) (P < .001). No symptomatic intracerebral hemorrhage occurred in patients with VENI. Mortality rates were 0% in the patients with VENI and 17.3% in patients without VENI. Baseline scores for VENI (adjusted odds ratio, 6.23; 95% confidence interval, 2.03-19.13; P = .001) and the National Institute of Health Stroke Scale (0.83; 0.76-0.91; P < .001) were the only 2 factors associated with favorable outcome (modified Rankin Scale score of ≤1). VENI at the end of i.v. rt-PA perfusion in patients with AIS independently predicts favorable outcome at 3 months.
    Archives of neurology 11/2010; 67(11):1323-8. DOI:10.1001/archneurol.2010.265 · 7.01 Impact Factor
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    ABSTRACT: The COL4A1 gene encodes the α1-chain of type IV collagen, which is ubiquitously expressed in basement membranes. Mutations in COL4A1 have been reported in autosomal-dominant porencephaly and in patients with symptomatic small vessel brain disease, inconstantly associated with eye defects. We have previously reported three COL4A1 mutations associated with a systemic phenotype that we called HANAC (Hereditary Angiopathy, Nephropathy, Aneurysms, and Cramps). We carried out a clinical and genetic study of three families presenting with characteristic features of HANAC syndrome. Common systemic signs included arterial retinal tortuosity and muscle cramps, with a variable combination of small vessel brain disease, Raynaud phenomena, and kidney defects. Three novel COL4A1 missense substitutions are described, which affect highly conserved glycine residues within the collagenous domain of the protein. All six known mutations associated with the HANAC phenotype are localized within the CB3[IV] fragment of COL4A1, which encompasses major integrin-binding sites. Our results confirm that HANAC syndrome is a distinct clinical entity within the COL4A1-related disorders, which is characterized by systemic involvement and usually asymptomatic brain disease. The restricted distribution of COL4A1 mutations within the CB3[IV] region is a characteristic of the reports of patients with HANAC, which suggests that abnormal cell-type IV collagen interactions may underlie the systemic defects observed in this syndrome.
    American Journal of Medical Genetics Part A 10/2010; 152A(10):2550-5. DOI:10.1002/ajmg.a.33659 · 2.05 Impact Factor
  • Clinical Journal of the American Society of Nephrology 03/2010; 5(4):563-7. DOI:10.2215/CJN.01720210 · 5.25 Impact Factor
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    ABSTRACT: COL4A1 mutations cause familial porencephaly, infantile hemiplegia, cerebral small vessel disease (CSVD), and hemorrhagic stroke. We recently described hereditary angiopathy with nephropathy, aneurysm, and muscle cramps (HANAC) syndrome in 3 families with closely localized COL4A1 mutations. The aim of this study was to describe the cerebrovascular phenotype of HANAC. Detailed clinical data were collected in 14 affected subjects from the 3 families. MRI and magnetic resonance angiography (MRA) were performed in 9 of them. Skin biopsies were analyzed by electron microscopy in affected subjects in the 3 families. Only 2 of 14 subjects had clinical cerebrovascular symptoms: a minor ischemic stroke at age 47 years and a small posttraumatic hemorrhage under anticoagulants at age 48 years. MRI-MRA showed cerebrovascular lesions in 8 of 9 studied subjects (mean age 39.4 years, 21-57 years), asymptomatic in 6 of them. Unique or multiple intracranial aneurysms, all on the carotid siphon, were observed in 5 patients. Seven patients had a CSVD characterized by white matter changes (7/7) affecting subcortical, periventricular, or pontine regions, dilated perivascular spaces (5/7), and lacunar infarcts (4/7). Infantile hemiplegia, major stroke, and porencephaly were not observed. Skin biopsies showed alterations of basement membranes at the dermoepidermal junction associated with expansion of extracellular matrix between smooth vascular cells in the arteriolar wall. The cerebrovascular phenotype in hereditary angiopathy with nephropathy, aneurysm, and muscle cramps syndrome associates a cerebral small vessel disease and a large vessel disease with aneurysms of the carotid siphon. It is consistent with a lower susceptibility to hemorrhagic stroke than in familial porencephaly, suggesting an important clinical heterogeneity in the phenotypic expression of disorders related to COL4A1 mutations.
    Neurology 12/2009; 73(22):1873-82. DOI:10.1212/WNL.0b013e3181c3fd12 · 8.30 Impact Factor
  • Journal de Radiologie 10/2008; 89(10):1576-1576. DOI:10.1016/S0221-0363(08)76895-1 · 0.57 Impact Factor
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    ABSTRACT: Creutzfeldt-Jakob disease (CJD) is a neurodegenerative disease caused by the accumulation of a pathogenic isoform of a prion protein in neurons that is responsible for subacute dementia. The Heidenhain variant is an atypical form of CJD in which visual signs are predominant. This is a report of the case of a 65-year-old man with probable CJD of the Heidenhain variant, with topographical concordance between findings on magnetic resonance imaging (MRI) and 18F-fluorodeoxyglucose (FDG) photopenic areas on positron emission tomography (PET)/computed tomography (CT) for cortical parietooccipital lesions.
    Journal of Neuroradiology 06/2008; 35(4):240-3. DOI:10.1016/j.neurad.2008.03.001 · 1.13 Impact Factor
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    ABSTRACT: COL4A3, COL4A4, and COL4A5 are the only collagen genes that have been implicated in inherited nephropathies in humans. However, the causative genes for a number of hereditary multicystic kidney diseases, myopathies with cramps, and heritable intracranial aneurysms remain unknown. We characterized the renal and extrarenal phenotypes of subjects from three families who had an autosomal dominant hereditary angiopathy with nephropathy, aneurysms, and muscle cramps (HANAC), which we propose is a syndrome. Linkage studies involving microsatellite markers flanking the COL4A1-COL4A2 locus were performed, followed by sequence analysis of COL4A1 complementary DNA extracted from skin-fibroblast specimens from the subjects. We identified three closely located glycine mutations in exons 24 and 25 of the gene COL4A1, which encodes procollagen type IV alpha1. The clinical renal manifestations of the HANAC syndrome in these families include hematuria and bilateral, large cysts. Histologic analysis revealed complex basement-membrane defects in kidney and skin. The systemic angiopathy of the HANAC syndrome appears to affect both small vessels and large arteries. COL4A1 may be a candidate gene in unexplained familial syndromes with autosomal dominant hematuria, cystic kidney disease, intracranial aneurysms, and muscle cramps.
    New England Journal of Medicine 01/2008; 357(26):2687-95. DOI:10.1056/NEJMoa071906 · 54.42 Impact Factor