Carpenter, Stirling* Dotaz Zobrazit nápovědu

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2 záznamů v Medvik

Kniha

Pathology of skeletal muscle

New York : Oxford University Press, 2001

2nd ed. x, 662 s. : il.

Článek

Diagnosis and misdiagnosis of adult neuronal ceroid lipofuscinosis (Kufs disease)

Berkovic, Samuel F
Autor Berkovic, Samuel F From the Epilepsy Research Centre, Department of Medicine (S.F.B., K.L.O., J.A.D., M.S.H.), University of Melbourne, Austin Health, Heidelberg, Australia Biogen, Inc. (J.F.S.), Cambridge, MA Department of Pathology (S.C.), Centro Hospitalar São João, Porto, Portugal Institute of Inherited Metabolic Disorders (S.K., I.J., A.P.), First Faculty of Medicine, Charles University in Prague General University Hospital in Prague (S.K.), Czech Republic Great Ormond Street Hospital for Children NHS Foundation Trust (G.W.A.), London, UK Center for Human Genetic Research and Department of Neurology (K.B.S., S.L.C.), Harvard Medical School, Massachusetts General Hospital, Boston Population Health and Immunity Division (M.B., K.R.S.), The Walter and Eliza Hall Institute of Medical Research Departments of Mathematics and Statistics and Medical Biology (M.B.), University of Melbourne, Australia Centre de Recherche du Centre Hospitalier de l'Université de Montréal (M.C.-D., P.C.), University of Montreal, Canada and MRC Laboratory for Cell Biology (S.E.M.), Department of Genetics, Evolution & Environment and UCL Institute of Child Health, University College London, UK. s.berkovic@unimelb.edu.au
Staropoli, John F
Autor Staropoli, John F From the Epilepsy Research Centre, Department of Medicine (S.F.B., K.L.O., J.A.D., M.S.H.), University of Melbourne, Austin Health, Heidelberg, Australia Biogen, Inc. (J.F.S.), Cambridge, MA Department of Pathology (S.C.), Centro Hospitalar São João, Porto, Portugal Institute of Inherited Metabolic Disorders (S.K., I.J., A.P.), First Faculty of Medicine, Charles University in Prague General University Hospital in Prague (S.K.), Czech Republic Great Ormond Street Hospital for Children NHS Foundation Trust (G.W.A.), London, UK Center for Human Genetic Research and Department of Neurology (K.B.S., S.L.C.), Harvard Medical School, Massachusetts General Hospital, Boston Population Health and Immunity Division (M.B., K.R.S.), The Walter and Eliza Hall Institute of Medical Research Departments of Mathematics and Statistics and Medical Biology (M.B.), University of Melbourne, Australia Centre de Recherche du Centre Hospitalier de l'Université de Montréal (M.C.-D., P.C.), University of Montreal, Canada and MRC Laboratory for Cell Biology (S.E.M.), Department of Genetics, Evolution & Environment and UCL Institute of Child Health, University College London, UK
Carpenter, Stirling
Autor Carpenter, Stirling From the Epilepsy Research Centre, Department of Medicine (S.F.B., K.L.O., J.A.D., M.S.H.), University of Melbourne, Austin Health, Heidelberg, Australia Biogen, Inc. (J.F.S.), Cambridge, MA Department of Pathology (S.C.), Centro Hospitalar São João, Porto, Portugal Institute of Inherited Metabolic Disorders (S.K., I.J., A.P.), First Faculty of Medicine, Charles University in Prague General University Hospital in Prague (S.K.), Czech Republic Great Ormond Street Hospital for Children NHS Foundation Trust (G.W.A.), London, UK Center for Human Genetic Research and Department of Neurology (K.B.S., S.L.C.), Harvard Medical School, Massachusetts General Hospital, Boston Population Health and Immunity Division (M.B., K.R.S.), The Walter and Eliza Hall Institute of Medical Research Departments of Mathematics and Statistics and Medical Biology (M.B.), University of Melbourne, Australia Centre de Recherche du Centre Hospitalier de l'Université de Montréal (M.C.-D., P.C.), University of Montreal, Canada and MRC Laboratory for Cell Biology (S.E.M.), Department of Genetics, Evolution & Environment and UCL Institute of Child Health, University College London, UK
Oliver, Karen L
Autor Oliver, Karen L From the Epilepsy Research Centre, Department of Medicine (S.F.B., K.L.O., J.A.D., M.S.H.), University of Melbourne, Austin Health, Heidelberg, Australia Biogen, Inc. (J.F.S.), Cambridge, MA Department of Pathology (S.C.), Centro Hospitalar São João, Porto, Portugal Institute of Inherited Metabolic Disorders (S.K., I.J., A.P.), First Faculty of Medicine, Charles University in Prague General University Hospital in Prague (S.K.), Czech Republic Great Ormond Street Hospital for Children NHS Foundation Trust (G.W.A.), London, UK Center for Human Genetic Research and Department of Neurology (K.B.S., S.L.C.), Harvard Medical School, Massachusetts General Hospital, Boston Population Health and Immunity Division (M.B., K.R.S.), The Walter and Eliza Hall Institute of Medical Research Departments of Mathematics and Statistics and Medical Biology (M.B.), University of Melbourne, Australia Centre de Recherche du Centre Hospitalier de l'Université de Montréal (M.C.-D., P.C.), University of Montreal, Canada and MRC Laboratory for Cell Biology (S.E.M.), Department of Genetics, Evolution & Environment and UCL Institute of Child Health, University College London, UK
Kmoch, Stanislav
Autor Kmoch, Stanislav From the Epilepsy Research Centre, Department of Medicine (S.F.B., K.L.O., J.A.D., M.S.H.), University of Melbourne, Austin Health, Heidelberg, Australia Biogen, Inc. (J.F.S.), Cambridge, MA Department of Pathology (S.C.), Centro Hospitalar São João, Porto, Portugal Institute of Inherited Metabolic Disorders (S.K., I.J., A.P.), First Faculty of Medicine, Charles University in Prague General University Hospital in Prague (S.K.), Czech Republic Great Ormond Street Hospital for Children NHS Foundation Trust (G.W.A.), London, UK Center for Human Genetic Research and Department of Neurology (K.B.S., S.L.C.), Harvard Medical School, Massachusetts General Hospital, Boston Population Health and Immunity Division (M.B., K.R.S.), The Walter and Eliza Hall Institute of Medical Research Departments of Mathematics and Statistics and Medical Biology (M.B.), University of Melbourne, Australia Centre de Recherche du Centre Hospitalier de l'Université de Montréal (M.C.-D., P.C.), University of Montreal, Canada and MRC Laboratory for Cell Biology (S.E.M.), Department of Genetics, Evolution & Environment and UCL Institute of Child Health, University College London, UK
Anderson, Glenn W
Autor Anderson, Glenn W From the Epilepsy Research Centre, Department of Medicine (S.F.B., K.L.O., J.A.D., M.S.H.), University of Melbourne, Austin Health, Heidelberg, Australia Biogen, Inc. (J.F.S.), Cambridge, MA Department of Pathology (S.C.), Centro Hospitalar São João, Porto, Portugal Institute of Inherited Metabolic Disorders (S.K., I.J., A.P.), First Faculty of Medicine, Charles University in Prague General University Hospital in Prague (S.K.), Czech Republic Great Ormond Street Hospital for Children NHS Foundation Trust (G.W.A.), London, UK Center for Human Genetic Research and Department of Neurology (K.B.S., S.L.C.), Harvard Medical School, Massachusetts General Hospital, Boston Population Health and Immunity Division (M.B., K.R.S.), The Walter and Eliza Hall Institute of Medical Research Departments of Mathematics and Statistics and Medical Biology (M.B.), University of Melbourne, Australia Centre de Recherche du Centre Hospitalier de l'Université de Montréal (M.C.-D., P.C.), University of Montreal, Canada and MRC Laboratory for Cell Biology (S.E.M.), Department of Genetics, Evolution & Environment and UCL Institute of Child Health, University College London, UK
Damiano, John A
Autor Damiano, John A From the Epilepsy Research Centre, Department of Medicine (S.F.B., K.L.O., J.A.D., M.S.H.), University of Melbourne, Austin Health, Heidelberg, Australia Biogen, Inc. (J.F.S.), Cambridge, MA Department of Pathology (S.C.), Centro Hospitalar São João, Porto, Portugal Institute of Inherited Metabolic Disorders (S.K., I.J., A.P.), First Faculty of Medicine, Charles University in Prague General University Hospital in Prague (S.K.), Czech Republic Great Ormond Street Hospital for Children NHS Foundation Trust (G.W.A.), London, UK Center for Human Genetic Research and Department of Neurology (K.B.S., S.L.C.), Harvard Medical School, Massachusetts General Hospital, Boston Population Health and Immunity Division (M.B., K.R.S.), The Walter and Eliza Hall Institute of Medical Research Departments of Mathematics and Statistics and Medical Biology (M.B.), University of Melbourne, Australia Centre de Recherche du Centre Hospitalier de l'Université de Montréal (M.C.-D., P.C.), University of Montreal, Canada and MRC Laboratory for Cell Biology (S.E.M.), Department of Genetics, Evolution & Environment and UCL Institute of Child Health, University College London, UK
Hildebrand, Michael S
Autor Hildebrand, Michael S From the Epilepsy Research Centre, Department of Medicine (S.F.B., K.L.O., J.A.D., M.S.H.), University of Melbourne, Austin Health, Heidelberg, Australia Biogen, Inc. (J.F.S.), Cambridge, MA Department of Pathology (S.C.), Centro Hospitalar São João, Porto, Portugal Institute of Inherited Metabolic Disorders (S.K., I.J., A.P.), First Faculty of Medicine, Charles University in Prague General University Hospital in Prague (S.K.), Czech Republic Great Ormond Street Hospital for Children NHS Foundation Trust (G.W.A.), London, UK Center for Human Genetic Research and Department of Neurology (K.B.S., S.L.C.), Harvard Medical School, Massachusetts General Hospital, Boston Population Health and Immunity Division (M.B., K.R.S.), The Walter and Eliza Hall Institute of Medical Research Departments of Mathematics and Statistics and Medical Biology (M.B.), University of Melbourne, Australia Centre de Recherche du Centre Hospitalier de l'Université de Montréal (M.C.-D., P.C.), University of Montreal, Canada and MRC Laboratory for Cell Biology (S.E.M.), Department of Genetics, Evolution & Environment and UCL Institute of Child Health, University College London, UK
Sims, Katherine B
Autor Sims, Katherine B From the Epilepsy Research Centre, Department of Medicine (S.F.B., K.L.O., J.A.D., M.S.H.), University of Melbourne, Austin Health, Heidelberg, Australia Biogen, Inc. (J.F.S.), Cambridge, MA Department of Pathology (S.C.), Centro Hospitalar São João, Porto, Portugal Institute of Inherited Metabolic Disorders (S.K., I.J., A.P.), First Faculty of Medicine, Charles University in Prague General University Hospital in Prague (S.K.), Czech Republic Great Ormond Street Hospital for Children NHS Foundation Trust (G.W.A.), London, UK Center for Human Genetic Research and Department of Neurology (K.B.S., S.L.C.), Harvard Medical School, Massachusetts General Hospital, Boston Population Health and Immunity Division (M.B., K.R.S.), The Walter and Eliza Hall Institute of Medical Research Departments of Mathematics and Statistics and Medical Biology (M.B.), University of Melbourne, Australia Centre de Recherche du Centre Hospitalier de l'Université de Montréal (M.C.-D., P.C.), University of Montreal, Canada and MRC Laboratory for Cell Biology (S.E.M.), Department of Genetics, Evolution & Environment and UCL Institute of Child Health, University College London, UK
Cotman, Susan L
Autor Cotman, Susan L From the Epilepsy Research Centre, Department of Medicine (S.F.B., K.L.O., J.A.D., M.S.H.), University of Melbourne, Austin Health, Heidelberg, Australia Biogen, Inc. (J.F.S.), Cambridge, MA Department of Pathology (S.C.), Centro Hospitalar São João, Porto, Portugal Institute of Inherited Metabolic Disorders (S.K., I.J., A.P.), First Faculty of Medicine, Charles University in Prague General University Hospital in Prague (S.K.), Czech Republic Great Ormond Street Hospital for Children NHS Foundation Trust (G.W.A.), London, UK Center for Human Genetic Research and Department of Neurology (K.B.S., S.L.C.), Harvard Medical School, Massachusetts General Hospital, Boston Population Health and Immunity Division (M.B., K.R.S.), The Walter and Eliza Hall Institute of Medical Research Departments of Mathematics and Statistics and Medical Biology (M.B.), University of Melbourne, Australia Centre de Recherche du Centre Hospitalier de l'Université de Montréal (M.C.-D., P.C.), University of Montreal, Canada and MRC Laboratory for Cell Biology (S.E.M.), Department of Genetics, Evolution & Environment and UCL Institute of Child Health, University College London, UK

Neurology. 2016 ; 87 (6) : 579-84. [pub] 20160713

ISSN 1526-632X
Medvik
Zdroj

OBJECTIVE: To critically re-evaluate cases diagnosed as adult neuronal ceroid lipofuscinosis (ANCL) in order to aid clinicopathologic diagnosis as a route to further gene discovery. METHODS: Through establishment of an international consortium we pooled 47 unsolved cases regarded by referring centers as ANCL. Clinical and neuropathologic experts within the Consortium established diagnostic criteria for ANCL based on the literature to assess each case. A panel of 3 neuropathologists independently reviewed source pathologic data. Cases were given a final clinicopathologic classification of definite ANCL, probable ANCL, possible ANCL, or not ANCL. RESULTS: Of the 47 cases, only 16 fulfilled the Consortium's criteria of ANCL (5 definite, 2 probable, 9 possible). Definitive alternate diagnoses were made in 10, including Huntington disease, early-onset Alzheimer disease, Niemann-Pick disease, neuroserpinopathy, prion disease, and neurodegeneration with brain iron accumulation. Six cases had features suggesting an alternate diagnosis, but no specific condition was identified; in 15, the data were inadequate for classification. Misinterpretation of normal lipofuscin as abnormal storage material was the commonest cause of misdiagnosis. CONCLUSIONS: Diagnosis of ANCL remains challenging; expert pathologic analysis and recent molecular genetic advances revealed misdiagnoses in >1/3 of cases. We now have a refined group of cases that will facilitate identification of new causative genes.

MeSH
chybná diagnóza * MeSH
dospělí MeSH
lidé MeSH
lipofuscin metabolismus MeSH
mladiství MeSH
mladý dospělý MeSH
neuronální ceroidlipofuscinózy klasifikace diagnóza genetika metabolismus MeSH
neurony metabolismus ultrastruktura MeSH
věk při počátku nemoci MeSH
Check Tag
dospělí MeSH
lidé MeSH
mladiství MeSH
mladý dospělý MeSH
Publikační typ
časopisecké články MeSH

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