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Pracoviště: Department of Neurology NorthShore University H...

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Článek

Role for the microtubule-associated protein tau variant p.A152T in risk of α-synucleinopathies

Labbé, Catherine
Autor Labbé, Catherine From the Departments of Neuroscience (C.L., K.O., O.L.-B., A.I.S.-O., R.L.W., S.R., M.E.M., P.J.M., R.R., N.E.-T., D.W.D., O.A.R.), Neurology (S.F., N.E.-T., N.R.G.-R., R.J.U., Z.K.W.), and Psychiatry and Psychology (T.J.F.), Division of Biomedical Statistics and Informatics (M.G.H.), and Mayo Graduate School (P.J.M., O.A.R.), Mayo Clinic, Jacksonville, FL Dublin Neurological Institute at the Mater Misericordiae University Hospital (A.M., T.L.), Conway Institute of Biomolecular & Biomedical Research (A.M., T.L.), University College Dublin, Ireland Department of Clinical Sciences (A.P.), Lund University, and Department of Neurology, Skåne University Hospital, Sweden Department of Neurology (J.S., G.O.), Medical University of Silesia, Katowice Department of Neurology (M.R., A.K.-W.), Jagiellonian University, Krakow Department of Neurodegenerative Disorders (M.B.), Medical Research Centre, Polish Academy of Sciences, Warsaw Department of Neurology (K.C.), Central Hospital of the Ministry of Interior and Administration, Warsaw, Poland Lviv Regional Clinical Hospital (Y.S.), Ukraine Department of Neurology and School of Medicine (I.R.), Central European Institute of Technology, Masaryk University, Brno, Czech Republic Departments of Neurology (A.H., J.E.A., B.F.B., R.C.P.) and Pathology and Laboratory Medicine (J.E.P.), Mayo Clinic, Rochester, MN Department of Neurology (D.M.M.), NorthShore University Health System, Evanston, IL and Department of Neurology (C.H.A.), Mayo Clinic, Scottsdale, AZ
Ogaki, Kotaro
Autor Ogaki, Kotaro From the Departments of Neuroscience (C.L., K.O., O.L.-B., A.I.S.-O., R.L.W., S.R., M.E.M., P.J.M., R.R., N.E.-T., D.W.D., O.A.R.), Neurology (S.F., N.E.-T., N.R.G.-R., R.J.U., Z.K.W.), and Psychiatry and Psychology (T.J.F.), Division of Biomedical Statistics and Informatics (M.G.H.), and Mayo Graduate School (P.J.M., O.A.R.), Mayo Clinic, Jacksonville, FL Dublin Neurological Institute at the Mater Misericordiae University Hospital (A.M., T.L.), Conway Institute of Biomolecular & Biomedical Research (A.M., T.L.), University College Dublin, Ireland Department of Clinical Sciences (A.P.), Lund University, and Department of Neurology, Skåne University Hospital, Sweden Department of Neurology (J.S., G.O.), Medical University of Silesia, Katowice Department of Neurology (M.R., A.K.-W.), Jagiellonian University, Krakow Department of Neurodegenerative Disorders (M.B.), Medical Research Centre, Polish Academy of Sciences, Warsaw Department of Neurology (K.C.), Central Hospital of the Ministry of Interior and Administration, Warsaw, Poland Lviv Regional Clinical Hospital (Y.S.), Ukraine Department of Neurology and School of Medicine (I.R.), Central European Institute of Technology, Masaryk University, Brno, Czech Republic Departments of Neurology (A.H., J.E.A., B.F.B., R.C.P.) and Pathology and Laboratory Medicine (J.E.P.), Mayo Clinic, Rochester, MN Department of Neurology (D.M.M.), NorthShore University Health System, Evanston, IL and Department of Neurology (C.H.A.), Mayo Clinic, Scottsdale, AZ
Lorenzo-Betancor, Oswaldo
Autor Lorenzo-Betancor, Oswaldo From the Departments of Neuroscience (C.L., K.O., O.L.-B., A.I.S.-O., R.L.W., S.R., M.E.M., P.J.M., R.R., N.E.-T., D.W.D., O.A.R.), Neurology (S.F., N.E.-T., N.R.G.-R., R.J.U., Z.K.W.), and Psychiatry and Psychology (T.J.F.), Division of Biomedical Statistics and Informatics (M.G.H.), and Mayo Graduate School (P.J.M., O.A.R.), Mayo Clinic, Jacksonville, FL Dublin Neurological Institute at the Mater Misericordiae University Hospital (A.M., T.L.), Conway Institute of Biomolecular & Biomedical Research (A.M., T.L.), University College Dublin, Ireland Department of Clinical Sciences (A.P.), Lund University, and Department of Neurology, Skåne University Hospital, Sweden Department of Neurology (J.S., G.O.), Medical University of Silesia, Katowice Department of Neurology (M.R., A.K.-W.), Jagiellonian University, Krakow Department of Neurodegenerative Disorders (M.B.), Medical Research Centre, Polish Academy of Sciences, Warsaw Department of Neurology (K.C.), Central Hospital of the Ministry of Interior and Administration, Warsaw, Poland Lviv Regional Clinical Hospital (Y.S.), Ukraine Department of Neurology and School of Medicine (I.R.), Central European Institute of Technology, Masaryk University, Brno, Czech Republic Departments of Neurology (A.H., J.E.A., B.F.B., R.C.P.) and Pathology and Laboratory Medicine (J.E.P.), Mayo Clinic, Rochester, MN Department of Neurology (D.M.M.), NorthShore University Health System, Evanston, IL and Department of Neurology (C.H.A.), Mayo Clinic, Scottsdale, AZ
Soto-Ortolaza, Alexandra I
Autor Soto-Ortolaza, Alexandra I From the Departments of Neuroscience (C.L., K.O., O.L.-B., A.I.S.-O., R.L.W., S.R., M.E.M., P.J.M., R.R., N.E.-T., D.W.D., O.A.R.), Neurology (S.F., N.E.-T., N.R.G.-R., R.J.U., Z.K.W.), and Psychiatry and Psychology (T.J.F.), Division of Biomedical Statistics and Informatics (M.G.H.), and Mayo Graduate School (P.J.M., O.A.R.), Mayo Clinic, Jacksonville, FL Dublin Neurological Institute at the Mater Misericordiae University Hospital (A.M., T.L.), Conway Institute of Biomolecular & Biomedical Research (A.M., T.L.), University College Dublin, Ireland Department of Clinical Sciences (A.P.), Lund University, and Department of Neurology, Skåne University Hospital, Sweden Department of Neurology (J.S., G.O.), Medical University of Silesia, Katowice Department of Neurology (M.R., A.K.-W.), Jagiellonian University, Krakow Department of Neurodegenerative Disorders (M.B.), Medical Research Centre, Polish Academy of Sciences, Warsaw Department of Neurology (K.C.), Central Hospital of the Ministry of Interior and Administration, Warsaw, Poland Lviv Regional Clinical Hospital (Y.S.), Ukraine Department of Neurology and School of Medicine (I.R.), Central European Institute of Technology, Masaryk University, Brno, Czech Republic Departments of Neurology (A.H., J.E.A., B.F.B., R.C.P.) and Pathology and Laboratory Medicine (J.E.P.), Mayo Clinic, Rochester, MN Department of Neurology (D.M.M.), NorthShore University Health System, Evanston, IL and Department of Neurology (C.H.A.), Mayo Clinic, Scottsdale, AZ
Walton, Ronald L
Autor Walton, Ronald L From the Departments of Neuroscience (C.L., K.O., O.L.-B., A.I.S.-O., R.L.W., S.R., M.E.M., P.J.M., R.R., N.E.-T., D.W.D., O.A.R.), Neurology (S.F., N.E.-T., N.R.G.-R., R.J.U., Z.K.W.), and Psychiatry and Psychology (T.J.F.), Division of Biomedical Statistics and Informatics (M.G.H.), and Mayo Graduate School (P.J.M., O.A.R.), Mayo Clinic, Jacksonville, FL Dublin Neurological Institute at the Mater Misericordiae University Hospital (A.M., T.L.), Conway Institute of Biomolecular & Biomedical Research (A.M., T.L.), University College Dublin, Ireland Department of Clinical Sciences (A.P.), Lund University, and Department of Neurology, Skåne University Hospital, Sweden Department of Neurology (J.S., G.O.), Medical University of Silesia, Katowice Department of Neurology (M.R., A.K.-W.), Jagiellonian University, Krakow Department of Neurodegenerative Disorders (M.B.), Medical Research Centre, Polish Academy of Sciences, Warsaw Department of Neurology (K.C.), Central Hospital of the Ministry of Interior and Administration, Warsaw, Poland Lviv Regional Clinical Hospital (Y.S.), Ukraine Department of Neurology and School of Medicine (I.R.), Central European Institute of Technology, Masaryk University, Brno, Czech Republic Departments of Neurology (A.H., J.E.A., B.F.B., R.C.P.) and Pathology and Laboratory Medicine (J.E.P.), Mayo Clinic, Rochester, MN Department of Neurology (D.M.M.), NorthShore University Health System, Evanston, IL and Department of Neurology (C.H.A.), Mayo Clinic, Scottsdale, AZ
Rayaprolu, Sruti
Autor Rayaprolu, Sruti From the Departments of Neuroscience (C.L., K.O., O.L.-B., A.I.S.-O., R.L.W., S.R., M.E.M., P.J.M., R.R., N.E.-T., D.W.D., O.A.R.), Neurology (S.F., N.E.-T., N.R.G.-R., R.J.U., Z.K.W.), and Psychiatry and Psychology (T.J.F.), Division of Biomedical Statistics and Informatics (M.G.H.), and Mayo Graduate School (P.J.M., O.A.R.), Mayo Clinic, Jacksonville, FL Dublin Neurological Institute at the Mater Misericordiae University Hospital (A.M., T.L.), Conway Institute of Biomolecular & Biomedical Research (A.M., T.L.), University College Dublin, Ireland Department of Clinical Sciences (A.P.), Lund University, and Department of Neurology, Skåne University Hospital, Sweden Department of Neurology (J.S., G.O.), Medical University of Silesia, Katowice Department of Neurology (M.R., A.K.-W.), Jagiellonian University, Krakow Department of Neurodegenerative Disorders (M.B.), Medical Research Centre, Polish Academy of Sciences, Warsaw Department of Neurology (K.C.), Central Hospital of the Ministry of Interior and Administration, Warsaw, Poland Lviv Regional Clinical Hospital (Y.S.), Ukraine Department of Neurology and School of Medicine (I.R.), Central European Institute of Technology, Masaryk University, Brno, Czech Republic Departments of Neurology (A.H., J.E.A., B.F.B., R.C.P.) and Pathology and Laboratory Medicine (J.E.P.), Mayo Clinic, Rochester, MN Department of Neurology (D.M.M.), NorthShore University Health System, Evanston, IL and Department of Neurology (C.H.A.), Mayo Clinic, Scottsdale, AZ
Fujioka, Shinsuke
Autor Fujioka, Shinsuke From the Departments of Neuroscience (C.L., K.O., O.L.-B., A.I.S.-O., R.L.W., S.R., M.E.M., P.J.M., R.R., N.E.-T., D.W.D., O.A.R.), Neurology (S.F., N.E.-T., N.R.G.-R., R.J.U., Z.K.W.), and Psychiatry and Psychology (T.J.F.), Division of Biomedical Statistics and Informatics (M.G.H.), and Mayo Graduate School (P.J.M., O.A.R.), Mayo Clinic, Jacksonville, FL Dublin Neurological Institute at the Mater Misericordiae University Hospital (A.M., T.L.), Conway Institute of Biomolecular & Biomedical Research (A.M., T.L.), University College Dublin, Ireland Department of Clinical Sciences (A.P.), Lund University, and Department of Neurology, Skåne University Hospital, Sweden Department of Neurology (J.S., G.O.), Medical University of Silesia, Katowice Department of Neurology (M.R., A.K.-W.), Jagiellonian University, Krakow Department of Neurodegenerative Disorders (M.B.), Medical Research Centre, Polish Academy of Sciences, Warsaw Department of Neurology (K.C.), Central Hospital of the Ministry of Interior and Administration, Warsaw, Poland Lviv Regional Clinical Hospital (Y.S.), Ukraine Department of Neurology and School of Medicine (I.R.), Central European Institute of Technology, Masaryk University, Brno, Czech Republic Departments of Neurology (A.H., J.E.A., B.F.B., R.C.P.) and Pathology and Laboratory Medicine (J.E.P.), Mayo Clinic, Rochester, MN Department of Neurology (D.M.M.), NorthShore University Health System, Evanston, IL and Department of Neurology (C.H.A.), Mayo Clinic, Scottsdale, AZ
Murray, Melissa E
Autor Murray, Melissa E From the Departments of Neuroscience (C.L., K.O., O.L.-B., A.I.S.-O., R.L.W., S.R., M.E.M., P.J.M., R.R., N.E.-T., D.W.D., O.A.R.), Neurology (S.F., N.E.-T., N.R.G.-R., R.J.U., Z.K.W.), and Psychiatry and Psychology (T.J.F.), Division of Biomedical Statistics and Informatics (M.G.H.), and Mayo Graduate School (P.J.M., O.A.R.), Mayo Clinic, Jacksonville, FL Dublin Neurological Institute at the Mater Misericordiae University Hospital (A.M., T.L.), Conway Institute of Biomolecular & Biomedical Research (A.M., T.L.), University College Dublin, Ireland Department of Clinical Sciences (A.P.), Lund University, and Department of Neurology, Skåne University Hospital, Sweden Department of Neurology (J.S., G.O.), Medical University of Silesia, Katowice Department of Neurology (M.R., A.K.-W.), Jagiellonian University, Krakow Department of Neurodegenerative Disorders (M.B.), Medical Research Centre, Polish Academy of Sciences, Warsaw Department of Neurology (K.C.), Central Hospital of the Ministry of Interior and Administration, Warsaw, Poland Lviv Regional Clinical Hospital (Y.S.), Ukraine Department of Neurology and School of Medicine (I.R.), Central European Institute of Technology, Masaryk University, Brno, Czech Republic Departments of Neurology (A.H., J.E.A., B.F.B., R.C.P.) and Pathology and Laboratory Medicine (J.E.P.), Mayo Clinic, Rochester, MN Department of Neurology (D.M.M.), NorthShore University Health System, Evanston, IL and Department of Neurology (C.H.A.), Mayo Clinic, Scottsdale, AZ
Heckman, Michael G
Autor Heckman, Michael G From the Departments of Neuroscience (C.L., K.O., O.L.-B., A.I.S.-O., R.L.W., S.R., M.E.M., P.J.M., R.R., N.E.-T., D.W.D., O.A.R.), Neurology (S.F., N.E.-T., N.R.G.-R., R.J.U., Z.K.W.), and Psychiatry and Psychology (T.J.F.), Division of Biomedical Statistics and Informatics (M.G.H.), and Mayo Graduate School (P.J.M., O.A.R.), Mayo Clinic, Jacksonville, FL Dublin Neurological Institute at the Mater Misericordiae University Hospital (A.M., T.L.), Conway Institute of Biomolecular & Biomedical Research (A.M., T.L.), University College Dublin, Ireland Department of Clinical Sciences (A.P.), Lund University, and Department of Neurology, Skåne University Hospital, Sweden Department of Neurology (J.S., G.O.), Medical University of Silesia, Katowice Department of Neurology (M.R., A.K.-W.), Jagiellonian University, Krakow Department of Neurodegenerative Disorders (M.B.), Medical Research Centre, Polish Academy of Sciences, Warsaw Department of Neurology (K.C.), Central Hospital of the Ministry of Interior and Administration, Warsaw, Poland Lviv Regional Clinical Hospital (Y.S.), Ukraine Department of Neurology and School of Medicine (I.R.), Central European Institute of Technology, Masaryk University, Brno, Czech Republic Departments of Neurology (A.H., J.E.A., B.F.B., R.C.P.) and Pathology and Laboratory Medicine (J.E.P.), Mayo Clinic, Rochester, MN Department of Neurology (D.M.M.), NorthShore University Health System, Evanston, IL and Department of Neurology (C.H.A.), Mayo Clinic, Scottsdale, AZ
Puschmann, Andreas
Autor Puschmann, Andreas From the Departments of Neuroscience (C.L., K.O., O.L.-B., A.I.S.-O., R.L.W., S.R., M.E.M., P.J.M., R.R., N.E.-T., D.W.D., O.A.R.), Neurology (S.F., N.E.-T., N.R.G.-R., R.J.U., Z.K.W.), and Psychiatry and Psychology (T.J.F.), Division of Biomedical Statistics and Informatics (M.G.H.), and Mayo Graduate School (P.J.M., O.A.R.), Mayo Clinic, Jacksonville, FL Dublin Neurological Institute at the Mater Misericordiae University Hospital (A.M., T.L.), Conway Institute of Biomolecular & Biomedical Research (A.M., T.L.), University College Dublin, Ireland Department of Clinical Sciences (A.P.), Lund University, and Department of Neurology, Skåne University Hospital, Sweden Department of Neurology (J.S., G.O.), Medical University of Silesia, Katowice Department of Neurology (M.R., A.K.-W.), Jagiellonian University, Krakow Department of Neurodegenerative Disorders (M.B.), Medical Research Centre, Polish Academy of Sciences, Warsaw Department of Neurology (K.C.), Central Hospital of the Ministry of Interior and Administration, Warsaw, Poland Lviv Regional Clinical Hospital (Y.S.), Ukraine Department of Neurology and School of Medicine (I.R.), Central European Institute of Technology, Masaryk University, Brno, Czech Republic Departments of Neurology (A.H., J.E.A., B.F.B., R.C.P.) and Pathology and Laboratory Medicine (J.E.P.), Mayo Clinic, Rochester, MN Department of Neurology (D.M.M.), NorthShore University Health System, Evanston, IL and Department of Neurology (C.H.A.), Mayo Clinic, Scottsdale, AZ

Neurology. 2015 ; 85 (19) : 1680-6. [pub] 20150902

ISSN 1526-632X
Medvik
Zdroj

OBJECTIVE: To assess the importance of MAPT variant p.A152T in the risk of synucleinopathies. METHODS: In this case-control study, we screened a large global series of patients and controls, and assessed associations between p.A152T and disease risk. We included 3,229 patients with clinical Parkinson disease (PD), 442 with clinical dementia with Lewy bodies (DLB), 181 with multiple system atrophy (MSA), 832 with pathologically confirmed Lewy body disease (LBD), and 2,456 healthy controls. RESULTS: The minor allele frequencies (MAF) in clinical PD cases (0.28%) and in controls (0.2%) were not found to be significantly different (odds ratio [OR] 1.37, 95% confidence interval [CI] 0.63-2.98, p = 0.42). However, a significant association was observed with clinical DLB (MAF 0.68%, OR 5.76, 95% CI 1.62-20.51, p = 0.007) and LBD (MAF 0.42%, OR 3.55, 95% CI 1.04-12.17, p = 0.04). Additionally, p.A152T was more common in patients with MSA compared to controls (MAF 0.55%, OR 4.68, 95% CI 0.85-25.72, p = 0.08) but this was not statistically significant and therefore should be interpreted with caution. CONCLUSIONS: Overall, our findings suggest that MAPT p.A152T is a rare low penetrance variant likely associated with DLB that may be influenced by coexisting LBD and AD pathology. Given the rare nature of the variant, further studies with greater sample size are warranted and will help to fully explain the role of p.A152T in the pathogenesis of the synucleinopathies.

MeSH
alfa-synuklein genetika MeSH
demence s Lewyho tělísky diagnóza genetika MeSH
dospělí MeSH
genetická predispozice k nemoci epidemiologie MeSH
genetická variace genetika MeSH
lidé středního věku MeSH
lidé MeSH
mladiství MeSH
mladý dospělý MeSH
multisystémová atrofie diagnóza genetika MeSH
Parkinsonova nemoc diagnóza genetika MeSH
proteiny tau genetika MeSH
senioři nad 80 let MeSH
senioři MeSH
studie případů a kontrol MeSH
Check Tag
dospělí MeSH
lidé středního věku MeSH
lidé MeSH
mladiství MeSH
mladý dospělý MeSH
mužské pohlaví MeSH
senioři nad 80 let MeSH
senioři MeSH
ženské pohlaví MeSH
Publikační typ
časopisecké články MeSH
práce podpořená grantem MeSH
Research Support, N.I.H., Extramural MeSH

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