Large-scale assessment of polyglutamine repeat expansions in Parkinson disease

Wang L., Aasly J.O., Annesi G., Bardien S., Bozi M., Brice A., Carr J., Chung S.J., Clarke C., Crosiers D., Deutschländer A., Eckstein G., Farrer M.J., Goldwurm S., Garraux G., Hadjigeorgiou G.M., Hicks A.A., Hattori N., Klein C., Jeon B., Kim Y.J., Lesage S., Lin J.-J., Lynch T., Lichtner P., Lang A.E., Mok V., Jasinska-Myga B., Mellick G.D., Morrison K.E., Opala G., PihlstrØm L., Pramstaller P.P., Park S.S., Quattrone A., Rogaeva E., Ross O.A., Stefanis L., Stockton J.D., Silburn P.A., Theuns J., Tan E.K., Tomiyama H., Toft M., Van Broeckhoven C., Uitti R.J., Wirdefeldt K., Wszolek Z., Xiromerisiou G., Yueh K.-C., Zhao Y., Gasser T., Maraganore D.M., Krüger R., Sharma M.

Συγγραφέας

Wang L., Aasly J.O., Annesi G., Bardien S., Bozi M., Brice A., Carr J., Chung S.J., Clarke C., Crosiers D., Deutschländer A., Eckstein G., Farrer M.J., Goldwurm S., Garraux G., Hadjigeorgiou G.M., Hicks A.A., Hattori N., Klein C., Jeon B., Kim Y.J., Lesage S., Lin J.-J., Lynch T., Lichtner P., Lang A.E., Mok V., Jasinska-Myga B., Mellick G.D., Morrison K.E., Opala G., PihlstrØm L., Pramstaller P.P., Park S.S., Quattrone A., Rogaeva E., Ross O.A., Stefanis L., Stockton J.D., Silburn P.A., Theuns J., Tan E.K., Tomiyama H., Toft M., Van Broeckhoven C., Uitti R.J., Wirdefeldt K., Wszolek Z., Xiromerisiou G., Yueh K.-C., Zhao Y., Gasser T., Maraganore D.M., Krüger R., Sharma M.

Ημερομηνία

2015

Γλώσσα

DOI

10.1212/WNL.0000000000002016

Εμφάνιση Μεταδεδομένων

Επιτομή

Objectives: We aim to clarify the pathogenic role of intermediate size repeat expansions of SCA2, SCA3, SCA6, and SCA17 as risk factors for idiopathic Parkinson disease (PD). Methods: We invited researchers from the Genetic Epidemiology of Parkinson's Disease Consortium to participate in the study. There were 12,346 cases and 8,164 controls genotyped, for a total of 4 repeats within the SCA2, SCA3, SCA6, and SCA17 genes. Fixed- and random-effects models were used to estimate the summary risk estimates for the genes. We investigated between-study heterogeneity and heterogeneity between different ethnic populations. Results: We did not observe any definite pathogenic repeat expansions for SCA2, SCA3, SCA6, and SCA17 genes in patients with idiopathic PD from Caucasian and Asian populations. Furthermore, overall analysis did not reveal any significant association between intermediate repeats and PD. The effect estimates (odds ratio) ranged from 0.93 to 1.01 in the overall cohort for the SCA2, SCA3, SCA6, and SCA17 loci. Conclusions: Our study did not support a major role for definite pathogenic repeat expansions in SCA2, SCA3, SCA6, and SCA17 genes for idiopathic PD. Thus, results of this large study do not support diagnostic screening of SCA2, SCA3, SCA6, and SCA17 gene repeats in the common idiopathic form of PD. Likewise, this largest multicentered study performed to date excludes the role of intermediate repeats of these genes as a risk factor for PD. © 2015 American Academy of Neurology.

URI

http://hdl.handle.net/11615/80778

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Δημοσιεύσεις σε περιοδικά, συνέδρια, κεφάλαια βιβλίων κλπ. [19735]

Showing items related by title, author, creator and subject.

Global, regional, and national age-sex specifc mortality for 264 causes of death, 1980-2016: A systematic analysis for the Global Burden of Disease Study 2016

Naghavi M., Abajobir A.A., Abbafati C., Abbas K.M., Abd-Allah F., Abera S.F., Aboyans V., Adetokunboh O., Ärnlöv J., Afshin A., Agrawal A., Kiadaliri A.A., Ahmadi A., Ahmed M.B., Aichour A.N., Aichour I., Aichour M.T.E., Aiyar S., Al-Eyadhy A., Alahdab F., Al-Aly Z., Alam K., Alam N., Alam T., Alene K.A., Ali S.D., Alizadeh-Navaei R., Alkaabi J.M., Alkerwi A., Alla F., Allebeck P., Allen C., Al-Raddadi R., Alsharif U., Altirkawi K.A., Alvis-Guzman N., Amare A.T., Amini E., Ammar W., Amoako Y.A., Anber N., Andersen H.H., Andrei C.L., Androudi S., Ansari H., Antonio C.A.T., Anwari P., Arora M., Artaman A., Aryal K.K., Asayesh H., Asgedom S.W., Atey T.M., Avila-Burgos L., Avokpaho E.F.G.A., Awasthi A., Quintanilla B.P.A., Béjot Y., Babalola T.K., Bacha U., Balakrishnan K., Barac A., Barboza M.A., Barker-Collo S.L., Barquera S., Barregard L., Barrero L.H., Baune B.T., Bedi N., Beghi E., Bekele B.B., Bell M.L., Bennett J.R., Bensenor I.M., Berhane A., Bernabé E., Betsu B.D., Beuran M., Bhatt S., Biadgilign S., Bienhof K., Bikbov B., Bisanzio D., Bourne R.R.A., Breitborde N.J.K., Bulto L.N.B., Bumgarner B.R., Butt Z.A., Cárdenas R., Cahuana-Hurtado L., Cameron E., Campuzano J.C., Car J., Carrero J.J., Carter A., Casey D.C., Castañeda-Orjuela C.A., Catalá-López F., Charlson F.J., Chibueze C.E., Chimed-Ochir O., Chisumpa V.H., Chitheer A.A., Christopher D.J., Ciobanu L.G., Cirillo M., Cohen A.J., Colombara D., Cooper C., Cowie B.C., Criqui M.H., Dandona L., Dandona R., Dargan P.I., Das Neves J., Davitoiu D.V., Davletov K., De Courten B., Degenhardt L., Deiparine S., Deribe K., Deribew A., Dey S., Dicker D., Ding E.L., Djalalinia S., Do H.P., Doku D.T., Douwes-Schultz D., Driscoll T.R., Dubey M., Duncan B.B., Echko M., El-Khatib Z.Z., Ellingsen C.L., Enayati A., Erskine H.E., Eskandarieh S., Esteghamati A., Ermakov S.P., Estep K., Sa Farinha C.S., Faro A., Farzadfar F., Feigin V.L., Fereshtehnejad S.-M., Fernandes J.C., Ferrari A.J., Feyissa T.R., Filip I., Finegold S., Fischer F., Fitzmaurice C., Flaxman A.D., Foigt N., Frank T., Fraser M., Fullman N., Fürst T., Furtado J.M., Gakidou E., Garcia-Basteiro A.L., Gebre T., Gebregergs G.B., Gebrehiwot T.T., Gebremichael D.Y., Geleijnse J.M., Genova-Maleras R., Gesesew H.A., Gething P.W., Gillum R.F., Ginawi I.A.M., Giref A.Z., Giroud M., Giussani G., Godwin W.W., Gold A.L., Goldberg E.M., Gona P.N., Gopalani S.V., Gouda H.N., Goulart A.C., Griswold M., Gupta P.C., Gupta R., Gupta T., Gupta V., Haagsma J.A., Hafezi-Nejad N., Hailu A.D., Hailu G.B., Hamadeh R.R., Hambisa M.T., Hamidi S., Hammami M., Hancock J., Handal A.J., Hankey G.J., Hao Y., Harb H.L., Hareri H.A., Hassanvand M.S., Havmoeller R., Hay S.I., He F., Hedayati M.T., Henry N.J., Heredia-Pi I.B., Herteliu C., Hoek H.W., Horino M., Horita N., Hosgood H.D., Hostiuc S., Hotez P.J., Hoy D.G., Huynh C., Iburg K.M., Ikeda C., Ileanu B.V., Irenso A.A., Irvine C.M.S., Jürisson M., Jacobsen K.H., Jahanmehr N., Jakovljevic M.B., Javanbakht M., Jayaraman 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Thrift A.G., Tobe-Gai R., Topor-Madry R., Torre A., Tortajada M., Towbin J.A., Tran B.X., Troeger C., Truelsen T., Tsoi D., Tuzcu E.M., Tyrovolas S., Ukwaja K.N., Undurraga E.A., Updike R., Uthman O.A., Uzochukwu B.S.C., Van Boven J.F.M., Vasankari T., Venketasubramanian N., Violante F.S., Vlassov V.V., Vollset S.E., Vos T., Wakayo T., Wallin M.T., Wang Y.-P., Weiderpass E., Weintraub R.G., Weiss D.J., Werdecker A., Westerman R., Whetter B., Whiteford H.A., Wijeratne T., Wiysonge C.S., Woldeyes B.G., Wolfe C.D.A., Woodbrook R., Workicho A., Xavier D., Xiao Q., Xu G., Yaghoubi M., Yakob B., Yano Y., Yaseri M., Yimam H.H., Yonemoto N., Yoon S.-J., Yotebieng M., Younis M.Z., Zaidi Z., El Sayed Zaki M., Zegeye E.A., Zenebe Z.M., Zerfu T.A., Zhang A.L., Zhang X., Zipkin B., Zodpey S., Lopez A.D., Murray C.J.L., GBD 2016 Causes of Death Collaborators (2017)

Background: Monitoring levels and trends in premature mortality is crucial to understanding how societies can address prominent sources of early death. The Global Burden of Disease 2016 Study (GBD 2016) provides a comprehensive ...
Healthcare access and quality index based on mortality from causes amenable to personal health care in 195 countries and territories, 1990-2015: A novel analysis from the global burden of disease study 2015

Barber R.M., Fullman N., Sorensen R.J.D., Bollyky T., McKee M., Nolte E., Abajobir A.A., Abate K.H., Abbafati C., Abbas K.M., Abd-Allah F., Abdulle A.M., Abdurahman A.A., Abera S.F., Abraham B., Abreha G.F., Adane K., Adelekan A.L., Adetifa I.M.O., Afshin A., Agarwal A., Agarwal S.K., Agarwal S., Agrawal A., Ahmad Kiadaliri A., Ahmadi A., Ahmed K.Y., Ahmed M.B., Akinyemi R.O., Akinyemiju T.F., Akseer N., Al-Aly Z., Alam K., Alam N., Alam S.S., Alemu Z.A., Alene K.A., Alexander L., Ali R., Ali S.D., Alizadeh-Navaei R., Alkerwi A., Alla F., Allebeck P., Allen C., Al-Raddadi R., Alsharif U., Altirkawi K.A., Alvarez Martin E., Alvis-Guzman N., Amare A.T., Amini E., Ammar W., Amo-Adjei J., Amoako Y.A., Anderson B.O., Androudi S., Ansari H., Ansha M.G., Antonio C.A.T., Ärnlöv J., Artaman A., Asayesh H., Assadi R., Astatkie A., Atey T.M., Atique S., Atnafu N.T., Atre S.R., Avila-Burgos L., Avokpaho E.F.G.A., Ayala Quintanilla B.P., Awasthi A., Ayele N.N., Azzopardi P., Ba Saleem H.O., 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Background National levels of personal health-care access and quality can be approximated by measuring mortality rates from causes that should not be fatal in the presence of effective medical care (ie, amenable mortality). ...
SARS-CoV-2 pathophysiology and its clinical implications: An integrative overview of the pharmacotherapeutic management of COVID-19

Tsatsakis A., Calina D., Falzone L., Petrakis D., Mitrut R., Siokas V., Pennisi M., Lanza G., Libra M., Doukas S.G., Doukas P.G., Kavali L., Bukhari A., Gadiparthi C., Vageli D.P., Kofteridis D.P., Spandidos D.A., Paoliello M.M.B., Aschner M., Docea A.O. (2020)

Common manifestations of COVID-19 are respiratory and can extend from mild symptoms to severe acute respiratory distress. The severity of the illness can also extend from mild disease to life-threatening acute respiratory ...