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Autor: Sims, Katherine B

2 záznamů v Medvik Filtry

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

Článek

Mutations in DNAJC5, encoding cysteine-string protein alpha, cause autosomal-dominant adult-onset neuronal ceroid lipofuscinosis

American journal of human genetics. 2011 ; 89 (2) : 241-252. [pub] 20110804

Am J Hum Genet
ISSN 1537-6605
Medvik
Zdroj

Autosomal-dominant adult-onset neuronal ceroid lipofuscinosis (ANCL) is characterized by accumulation of autofluorescent storage material in neural tissues and neurodegeneration and has an age of onset in the third decade of life or later. The genetic and molecular basis of the disease has remained unknown for many years. We carried out linkage mapping, gene-expression analysis, exome sequencing, and candidate-gene sequencing in affected individuals from 20 families and/or individuals with simplex cases; we identified in five individuals one of two disease-causing mutations, c.346_348delCTC and c.344T>G, in DNAJC5 encoding cysteine-string protein alpha (CSPα). These mutations-causing a deletion, p.Leu116del, and an amino acid exchange, p.Leu115Arg, respectively-are located within the cysteine-string domain of the protein and affect both palmitoylation-dependent sorting and the amount of CSPα in neuronal cells. The resulting depletion of functional CSPα might cause in parallel the presynaptic dysfunction and the progressive neurodegeneration observed in affected individuals and lysosomal accumulation of misfolded and proteolysis-resistant proteins in the form of characteristic ceroid deposits in neurons. Our work represents an important step in the genetic dissection of a genetically heterogeneous group of ANCLs. It also confirms a neuroprotective role for CSPα in humans and demonstrates the need for detailed investigation of CSPα in the neuronal ceroid lipofuscinoses and other neurodegenerative diseases presenting with neuronal protein aggregation.

MeSH
dominantní geny genetika MeSH
dospělí MeSH
exony genetika MeSH
genetická vazba MeSH
genová dávka genetika MeSH
lidé MeSH
lipoylace MeSH
lyzozomy metabolismus ultrastruktura MeSH
membránové proteiny genetika MeSH
molekulární sekvence - údaje MeSH
mozek metabolismus patologie ultrastruktura MeSH
mutace genetika MeSH
neuronální ceroidlipofuscinózy epidemiologie genetika patologie MeSH
neurony metabolismus patologie ultrastruktura MeSH
proteiny tepelného šoku HSP40 genetika MeSH
regulace genové exprese MeSH
rodina MeSH
rodokmen MeSH
segregace chromozomů genetika MeSH
sekvence nukleotidů MeSH
sekvenční analýza DNA MeSH
transport proteinů MeSH
věk při počátku nemoci MeSH
Check Tag
dospělí MeSH
lidé MeSH
mužské pohlaví MeSH
ženské pohlaví MeSH
Publikační typ
časopisecké články MeSH
práce podpořená grantem MeSH

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