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Prof Tony Schapira

  • Telephone:

    020 7830 2012

  • Extension:

    #6 292 x34363

  • Fax:

    020 7472 6829

  • Email:

    a.schapira@ucl.ac.uk

  • Address:

    3B-94, Upper 3rd Floor Institute of Neurology,
    Hampstead Campus. Rowland Hill St.,
    London ,
    NW3 2PF

  • Appointments:

    Professor of Neurological Science, Clinical Neuroscience, Institute of Neurology

Summary

CURRENT POSITION


Head of the Department of Clinical Neurosciences at UCL Institute of Neurology (ION), Professor of Neurology and Consultant Neurologist at the National Hospital for Neurology and Neurosurgery (NHNN) and the Royal Free Hospital.


 


BIOGRAPHICAL PROFILE


Undergraduate training as a Scholar at Westminster Medical School. Completed post-graduate training in London and was appointed to the University Chair of Clinical Neurosciences in 1990. Currently Vice Dean of the University College London Medical School, and Director of the Royal Free Campus. Visiting Professor at Harvard in 2009 and at Yale in 2010. Co-Editor in Chief of the European Journal of Neurology, and is on several Editorial Boards of neurology and neuroscience journals. Elected a Fellow of the Academy of Medical Sciences in 1999.


 


RESEARCH INTERESTS


Main research interests are in neurodegeneration and are focussed on the molecular pathogenesis of Parkinson’s disease (PD) and in the development of drugs for slowing the progress of this disease. Basic science expertise includes mitochondrial biology, and his group was the first to identify mitochondrial abnormalities as a contributing factor to the pathogenesis of Parkinson’s disease. He direct a large group investigating the interaction of PINK1, parkin and alpha synuclein mutations in PD and how these lead to neuronal dysfunction and death, and the biochemical relationship between glucocerebrosidase mutations and an increased risk for PD. His clinical research is focussed on PD and encompasses both symptomatic and disease modifying therapies. Principal investigator on several international clinical trials in the development of novel symptomatic treatments for PD and neuroprotection studies. Currently leading research on the clinical phenotype of patients at risk of developing PD including those with glucocerebrosidase mutations. This work is designed to identify clinical and biochemical features of prodromal PD. Co-Principal Investigator on the MRC-Wellcome Strategic Award in Neurodegeneration (6 million) and on the Wolfson Award (£20 million)

Research Summary

The University Department comprises Professor A H V Schapira, Head of Department and Chairman of Clinical Neurosciences Specialties, Professor Wise and Professor Warner, 3 Readers (Drs Anette Schrag,  Jan-Willem Taanman, Dr JM Cooper,) 1 clinical Senior Lecturers (Dr Orrell), 2 permanent senior technicians and one academic secretary. Additional research staff includes post-doctoral scientists, post-graduate PhD students, MRC Training Fellows, Wellcome Training Fellows and research technicians. The primary area of research in the department is the investigation of the aetiology and pathogenesis of neurodegenerative disorders. Specifically the department has an interest in the genetics and biochemistry of Parkinson's disease, Huntington's disease and Friedreich's ataxia. The department has established an international reputation in this area and in the area of diseases of the mitochondrial respiratory chain and inborn errors of mitochondrial function. There are also extensive research programmes on the genetics and pathogenesis of dystonia, motor neurone disease and peripheral nerve disorders. A joint appointment with the Hammersmith Hospital has provided an additional research interest in neuropsychology. Facilities for research are extensive. There are general laboratories for biochemistry, molecular biology, tissue preparation etc, in addition to specialist laboratory space for tissue culture (4 hoods), molecular biology, radioactive work, fluorimetry, spectrophotometry, lipid chemistry and histochemistry. There are advanced facilities for image analysis including an electron microscope.

Research Activities

  • A systematic investigation into the pathogenesis and course of Parkinson's syndrome
  • Generation of a cell model of a novel SNCA mutation
  • Investigation of alpha-synuclein mosaicism in Parkinson's disease
  • Mitochondrial dysfunction
  • Neurodegenerative diseases particularly: Parkinson's disease, Huntington's disease and Friedreich's Ataxi and the molecular mechanisms involved in the pathogenesis
  • Somatic mutations in SNCA in Parkinson's disease

Recent Publications

Displaying 50 most recent publications. For the full list please visit UCL Discovery

  1. Schapira AH,McDermott MP,Barone P,Comella CL,Albrecht S,Hsu HH,Massey DH,Mizuno Y,Poewe W,Rascol O,Marek K (2013) Pramipexole in patients with early Parkinson's disease (PROUD): a randomised delayed-start trial. Lancet Neurol. 10.1016/S1474-4422(13)70117-0.
  2. Ferreira JJ,Katzenschlager R,Bloem BR,Bonuccelli U,Burn D,Deuschl G,Dietrichs E,Fabbrini G,Friedman A,Kanovsky P,Kostic V,Nieuwboer A,Odin P,Poewe W,Rascol O,Sampaio C,Schüpbach M,Tolosa E,Trenkwalder C,Schapira A,Berardelli A,Oertel WH (2013) Summary of the recommendations of the EFNS/MDS-ES review on therapeutic management of Parkinson's disease. Eur J Neurol, 20(1), 5 - 15. 10.1111/j.1468-1331.2012.03866.x.
  3. Chau KY,Cooper JM,Schapira AH (2013) Pramipexole Reduces Phosphorylation of α-Synuclein at Serine-129. J Mol Neurosci. 10.1007/s12031-013-0030-8.
  4. Osellame LD,Rahim AA,Hargreaves IP,Gegg ME,Richard-Londt A,Brandner S,Waddington SN,Schapira AHV,Duchen MR (2013) Mitochondria and quality control defects in a mouse model of Gaucher disease - links to Parkinson’s Disease Cell Metabolism.
  5. Sarkozy A,Hicks D,Hudson J,Laval SH,Barresi R,Hilton-Jones D,Deschauer M,Harris E,Rufibach L,Hwang E,Bashir R,Walter MC,Krause S,van den Bergh P,Illa I,Pénisson-Besnier I,De Waele L,Turnbull D,Guglieri M,Schrank B,Schoser B,Seeger J,Schreiber H,Gläser D,Eagle M,Bailey G,Walters R,Longman C,Norwood F,Winer J,Muntoni F,Hanna M,Roberts M,Bindoff LA,Brierley C,Cooper RG,Cottrell DA,Davies NP,Gibson A,Gorman GS,Hammans S,Jackson AP,Khan A,Lane R,McConville J,McEntagart M,Al-Memar A,Nixon J,Panicker J,Parton M,Petty R,Price CJ,Rakowicz W,Ray P,Schapira AH,Swingler R,Turner C,Wagner KR,Maddison P,Shaw PJ,Straub V,Bushby K,Lochmüller H (2013) ANO5 Gene Analysis in a Large Cohort of Patients with Anoctaminopathy: Confirmation of Male Prevalence and High Occurrence of the Common Exon 5 Gene Mutation. Hum Mutat. 10.1002/humu.22342.
  6. Warren Olanow C,Kieburtz K,Rascol O,Poewe W,Schapira AH,Emre M,Nissinen H,Leinonen M,Stocchi F,Stalevo Reduction in Dyskinesia Evaluation in Parkinson's Disease (STRIDE-PD) Investigators (2013) Factors predictive of the development of levodopa-induced dyskinesia and wearing-off in Parkinson's disease. Mov Disord. 10.1002/mds.25364.
  7. McNeill A,Roberti G,Lascaratos G,Hughes D,Mehta A,Garway-Heath DF,Schapira AH (2013) Retinal thinning in Gaucher disease patients and carriers: Results of a pilot study. Mol Genet Metab, 109(2), 221 - 223. 10.1016/j.ymgme.2013.04.001.
  8. Desouza R,Moro E,Lang A,Schapira A (2013) Timing of deep brain stimulation in Parkinson's disease: A need for reappraisal? Ann Neurol. 10.1002/ana.23890.
  9. Alvarez-Erviti L,Seow Y,Schapira AH,Rodriguez-Oroz MC,Obeso JA,Cooper JM (2013) Influence of microRNA deregulation on chaperone-mediated autophagy and α-synuclein pathology in Parkinson's disease. Cell Death Dis, 4, e545. 10.1038/cddis.2013.73.
  10. Schapira AH,Gegg ME (2013) Glucocerebrosidase in the pathogenesis and treatment of Parkinson disease. Proc Natl Acad Sci U S A, 110(9), 3214 - 3215. 10.1073/pnas.1300822110.
  11. Mullin S,Schapira A (2013) Α-synuclein and mitochondrial dysfunction in Parkinson's disease. Mol Neurobiol, 47(2), 587 - 597. 10.1007/s12035-013-8394-x.
  12. Batla A,Stamelou M,Mencacci N,Schapira AH,Bhatia KP (2013) Ropinirole monotherapy induced severe reversible dyskinesias in Parkinson's disease. Mov Disord. 10.1002/mds.25318.
  13. Holmans P,Moskvina V,Jones L,Sharma M,International Parkinson's Disease Genomics Consortium ,Vedernikov A,Buchel F,Sadd M,Bras JM,Bettella F,Nicolaou N,Simón-Sánchez J,Mittag F,Gibbs JR,Schulte C,Durr A,Guerreiro R,Hernandez D,Brice A,Stefánsson H,Majamaa K,Gasser T,Heutink P,Wood NW,Martinez M,Singleton AB,Nalls MA,Hardy J,Morris HR,Williams NM (2013) A pathway-based analysis provides additional support for an immune-related genetic susceptibility to Parkinson's disease. Hum Mol Genet, 22(5), 1039 - 1049. 10.1093/hmg/dds492.
  14. Kilpatrick BS,Eden ER,Schapira AH,Futter CE,Patel S (2013) Direct mobilisation of lysosomal Ca2+ triggers complex Ca2+ signals. J Cell Sci, 126(Pt 1), 60 - 66. 10.1242/jcs.118836.
  15. Cleeter MW,Chau KY,Gluck C,Mehta A,Hughes DA,Duchen M,Wood NW,Hardy J,Mark Cooper J,Schapira AH (2013) Glucocerebrosidase inhibition causes mitochondrial dysfunction and free radical damage. Neurochem Int, 62(1), 1 - 7. 10.1016/j.neuint.2012.10.010.
  16. Schapira AH,Stocchi F,Borgohain R,Onofrj M,Bhatt M,Lorenzana P,Lucini V,Giuliani R,Anand R,Study 017 Investigators (2013) Long-term efficacy and safety of safinamide as add-on therapy in early Parkinson's disease. Eur J Neurol, 20(2), 271 - 280. 10.1111/j.1468-1331.2012.03840.x.
  17. Schapira AH,Barone P,Hauser RA,Mizuno Y,Rascol O,Busse M,Debieuvre C,Fraessdorf M,Poewe W (2013) Success rate, efficacy, and safety/tolerability of overnight switching from immediate- to extended-release pramipexole in advanced Parkinson's disease. Eur J Neurol, 20(1), 180 - 187. 10.1111/j.1468-1331.2012.03822.x.
  18. Schapira AH,Barone P,Hauser RA,Mizuno Y,Rascol O,Busse M,Debieuvre C,Fraessdorf M,Poewe W,Pramipexole ER Studies Group (2013) Patient-reported convenience of once-daily versus three-times-daily dosing during long-term studies of pramipexole in early and advanced Parkinson's disease. Eur J Neurol, 20(1), 50 - 56. 10.1111/j.1468-1331.2012.03712.x.
  19. Proukakis C,Houlden H,Schapira AH (2013) Somatic alpha-synuclein mutations in Parkinson's disease: Hypothesis and preliminary data. Mov Disord. 10.1002/mds.25502.
  20. Berg D,Lang AE,Postuma RB,Maetzler W,Deuschl G,Gasser T,Siderowf A,Schapira AH,Oertel W,Obeso JA,Olanow CW,Poewe W,Stern M (2013) Changing the research criteria for the diagnosis of Parkinson's disease: obstacles and opportunities. Lancet Neurol, 12(5), 514 - 524. 10.1016/S1474-4422(13)70047-4.
  21. Ray Chaudhuri K,Rojo JM,Schapira AH,Brooks DJ,Stocchi F,Odin P,Antonini A,Brown RJ,Martinez-Martin P (2013) A proposal for a comprehensive grading of Parkinson's disease severity combining motor and non-motor assessments: meeting an unmet need. PLoS One, 8(2), e57221. 10.1371/journal.pone.0057221.
  22. Klebe S,Golmard JL,Nalls MA,Saad M,Singleton AB,Bras JM,Hardy J,Simon-Sanchez J,Heutink P,Kuhlenbäumer G,Charfi R,Klein C,Hagenah J,Gasser T,Wurster I,Lesage S,Lorenz D,Deuschl G,Durif F,Pollak P,Damier P,Tison F,Durr A,Amouyel P,Lambert JC,Tzourio C,Maubaret C,Charbonnier-Beaupel F,Tahiri K,Vidailhet M,Martinez M,Brice A,Corvol JC,French Parkinson's Disease Genetics Study Group and the International Parkinson's Disease Genomics Consortium (IPDGC) (2013) The Val158Met COMT polymorphism is a modifier of the age at onset in Parkinson's disease with a sexual dimorphism. J Neurol Neurosurg Psychiatry, 84(6), 666 - 673. 10.1136/jnnp-2012-304475.
  23. Schapira AHV (2013) Mitochondrial diseases EUROPEAN JOURNAL OF CLINICAL INVESTIGATION, 43, 1 - 1.
  24. Schapira AH,Tan EK (2012) Optimizing treatment for Parkinson's disease. Eur J Neurol, 19(12), 1483 - 1486. 10.1111/ene.12025.
  25. Stocchi F,Borgohain R,Onofrj M,Schapira AH,Bhatt M,Lucini V,Giuliani R,Anand R,Study 015 Investigators (2012) A randomized, double-blind, placebo-controlled trial of safinamide as add-on therapy in early Parkinson's disease patients. Mov Disord, 27(1), 106 - 112. 10.1002/mds.23954.
  26. Osellame LD,Rahim A,Gegg ME,Waddington S,Schapira AHV,Duchen MR (2012) Accumulation of damaged mitochondria in neuropathic Gaucher disease, the most prevalent risk factor for Parkinson's disease, is due to defective cellular degradation machinery BIOCHIMICA ET BIOPHYSICA ACTA-BIOENERGETICS, 1817, S79 - S80. 10.1016/j.bbabio.2012.06.217.
  27. Schapira AH,Hillbom M (2012) Advances in neurology 2011-12. Eur J Neurol, 19(10), 1267 - 1275. 10.1111/j.1468-1331.2012.03870.x.
  28. Mizuno Y,Yamamoto M,Kuno S,Hasegawa K,Hattori N,Kagimura T,Sarashina A,Rascol O,Schapira AH,Barone P,Hauser RA,Poewe W,Pramipexole ER Study Group (2012) Efficacy and safety of extended- versus immediate-release pramipexole in Japanese patients with advanced and L-dopa-undertreated Parkinson disease: a double-blind, randomized trial. Clin Neuropharmacol, 35(4), 174 - 181. 10.1097/WNF.0b013e31825f77b9.
  29. Papkovskaia TD,Chau KY,Inesta-Vaquera F,Papkovsky DB,Healy DG,Nishio K,Staddon J,Duchen MR,Hardy J,Schapira AH,Cooper JM (2012) G2019S leucine-rich repeat kinase 2 causes uncoupling protein-mediated mitochondrial depolarization. Hum Mol Genet, 21(19), 4201 - 4213. 10.1093/hmg/dds244.
  30. Duran R,McNeill A,Mehta A,Hughes D,Cox T,Deegan P,Schapira AH,Hardy J (2012) Novel pathogenic mutations in the glucocerebrosidase locus. Mol Genet Metab, 106(4), 495 - 497. 10.1016/j.ymgme.2012.05.006.
  31. McNeill A,Duran R,Proukakis C,Bras J,Hughes D,Mehta A,Hardy J,Wood NW,Schapira AH (2012) Hyposmia and cognitive impairment in Gaucher disease patients and carriers. Mov Disord, 27(4), 526 - 532. 10.1002/mds.24945.
  32. Schapira AH (2012) Targeting mitochondria for neuroprotection in Parkinson's disease. Antioxid Redox Signal, 16(9), 965 - 973. 10.1089/ars.2011.4419.
  33. Devine MJ,Kaganovich A,Ryten M,Mamais A,Trabzuni D,Manzoni C,McGoldrick P,Chan D,Dillman A,Zerle J,Horan S,Taanman JW,Hardy J,Marti-Masso JF,Healy D,Schapira AH,Wolozin B,Bandopadhyay R,Cookson MR,van der Brug MP,Lewis PA (2012) Correction: Pathogenic LRRK2 Mutations Do Not Alter Gene Expression in Cell Model Systems or Human Brain Tissue. PLoS One, 7(1). 10.1371/annotation/c12e4f9e-5aae-424b-a69f-fddf16976dc5.
  34. Wray S,Self M,NINDS Parkinson's Disease iPSC Consortium ,NINDS Huntington's Disease iPSC Consortium ,NINDS ALS iPSC Consortium ,Lewis PA,Taanman JW,Ryan NS,Mahoney CJ,Liang Y,Devine MJ,Sheerin UM,Houlden H,Morris HR,Healy D,Marti-Masso JF,Preza E,Barker S,Sutherland M,Corriveau RA,D'Andrea M,Schapira AH,Uitti RJ,Guttman M,Opala G,Jasinska-Myga B,Puschmann A,Nilsson C,Espay AJ,Slawek J,Gutmann L,Boeve BF,Boylan K,Stoessl AJ,Ross OA,Maragakis NJ,Van Gerpen J,Gerstenhaber M,Gwinn K,Dawson TM,Isacson O,Marder KS,Clark LN,Przedborski SE,Finkbeiner S,Rothstein JD,Wszolek ZK,Rossor MN,Hardy J (2012) Creation of an open-access, mutation-defined fibroblast resource for neurological disease research. PLoS One, 7(8), e43099. 10.1371/journal.pone.0043099.
  35. Gegg ME,Burke D,Heales SJ,Cooper JM,Hardy J,Wood NW,Schapira AH (2012) Glucocerebrosidase deficiency in substantia nigra of parkinson disease brains Ann.Neurol., 72(3), 455 - 463. 10.1002/ana.23614.
  36. Klionsky DJ,Abdalla FC,Abeliovich H,Abraham RT,Acevedo-Arozena A,Adeli K,Agholme L,Agnello M,Agostinis P,Aguirre-Ghiso JA,Ahn HJ,Ait-Mohamed O,Ait-Si-Ali S,Akematsu T,Akira S,Al-Younes HM,Al-Zeer MA,Albert ML,Albin RL,Alegre-Abarrategui J,Aleo MF,Alirezaei M,Almasan A,Almonte-Becerril M,Amano A,Amaravadi R,Amarnath S,Amer AO,Andrieu-Abadie N,Anantharam V,Ann DK,Anoopkumar-Dukie S,Aoki H,Apostolova N,Arancia G,Aris JP,Asanuma K,Asare NYO,Ashida H,Askanas V,Askew DS,Auberger P,Baba M,Backues SK,Baehrecke EH,Bahr BA,Bai X-Y,Bailly Y,Baiocchi R,Baldini G,Balduini W,Ballabio A,Bamber BA,Bampton ETW,Bánhegyi G,Bartholomew CR,Bassham DC,Bast Jr RC,Batoko H,Bay B-H,Beau I,Béchet DM,Begley TJ,Behl C,Behrends C,Bekri S,Bellaire B,Bendall LJ,Benetti L,Berliocchi L,Bernardi H,Bernassola F,Besteiro S,Bhatia-Kissova I,Bi X,Biard-Piechaczyk M,Blum JS,Boise LH,Bonaldo P,Boone DL,Bornhauser BC,Bortoluci KR,Bossis I,Bost F,Bourquin J-P,Boya P,Boyer-Guittaut M,Bozhkov PV,Brady NR,Brancolini C,Brech A,Brenman JE,Brennand A,Bresnick EH,Brest P,Bridges D,Bristol ML,Brookes PS,Brown EJ,Brumell JH,Brunetti-Pierri N,Brunk UT,Bulman DE,Bultman SJ,Bultynck G,Burbulla LF,Bursch W,Butchar JP,Buzgariu W,Bydlowski SP,Cadwell K,Cahová M,Cai D,Cai J,Cai Q,Calabretta B,Calvo-Garrido J,Camougrand N,Campanella M,Campos-Salinas J,Candi E,Cao L,Caplan AB,Carding SR,Cardoso SM,Carew JS,Carlin CR,Carmignac V,Carneiro LAM,Carra S,Caruso RA,Casari G,Casas C,Castino R,Cebollero E,Cecconi F,Celli J,Chaachouay H,Chae H-J,Chai C-Y,Chan DC,Chan EY,Chang RC-C,Che C-M,Chen C-C,Chen G-C,Chen G-Q,Chen M,Chen Q,Chen SS-L,Chen W,Chen X,Chen Y-G,Chen Y,Chen Y-J,Chen Z,Cheng A,Cheng CHK,Cheng Y,Cheong H,Cheong J-H,Cherry S,Chess-Williams R,Cheung ZH,Chevet E,Chiang H-L,Chiarelli R,Chiba T,Chin L-S,Chiou S-H,Chisari FV,Cho CH,Cho D-H,Choi AMK,Choi D,Choi KS,Choi ME,Chouaib S,Choubey D,Choubey V,Chu CT,Chuang T-H,Chueh S-H,Chun T,Chwae Y-J,Chye M-L,Ciarcia R,Ciriolo MR,Clague MJ,Clark RSB,Clarke PGH,Clarke R,Codogno P,Coller HA,Colombo MI,Comincini S,Condello M,Condorelli F,Cookson MR,Coombs GH,Coppens I,Corbalan R,Cossart P,Costelli P,Costes S,Coto-Montes A,Couve E,Coxon FP,Cregg JM,Crespo JL,Cronjé MJ,Cuervo AM,Cullen JJ,Czaja MJ,D'Amelio M,Darfeuille-Michaud A,Davids LM,Davies FE,De Felici M,De Groot JF,De Haan CAM,De Martino L,De Milito A,De Tata V,Debnath J,Degterev A,Dehay B,Delbridge LMD,Demarchi F,Deng YZ,Dengjel J,Dent P,Denton D,Deretic V,Desai SD,Devenish RJ,Di Gioacchino M,Di Paolo G,Di Pietro C,Díaz-Araya G,Díaz-Laviada I,Diaz-Meco MT,Diaz-Nido J,Dikic I,Dinesh-Kumar SP,Ding W-X,Distelhorst CW,Diwan A,Djavaheri-Mergny M,Dokudovskaya S,Dong Z,Dorsey FC,Dosenko V,Dowling JJ,Doxsey S,Dreux M,Drew ME,Duan Q,Duchosal MA,Duff K,Dugail I,Durbeej M,Duszenko M,Edelstein CL,Edinger AL,Egea G,Eichinger L,Eissa NT,Ekmekcioglu S,El-Deiry WS,Elazar Z,Elgendy M,Ellerby LM,Er Eng K,Engelbrecht A-M,Engelender S,Erenpreisa J,Escalante R,Esclatine A,Eskelinen E-L,Espert L,Espina V,Fan H,Fan J,Fan Q-W,Fan Z,Fang S,Fang Y,Fanto M,Fanzani A,Farkas T,Farré J-C,Faure M,Fechheimer M,Feng CG,Feng J,Feng Q,Feng Y,Fésüs L,Feuer R,Figueiredo-Pereira ME,Fimia GM,Fingar DC,Finkbeiner S,Finkel T,Finley KD,Fiorito F,Fisher EA,Fisher PB,Flajolet M,Florez-McClure ML,Florio S,Fon EA,Fornai F,Fortunato F,Fotedar R,Fowler DH,Fox HS,Franco R,Frankel LB,Fransen M,Fuentes JM,Fueyo J,Fujii J,Fujisaki K,Fujita E,Fukuda M,Furukawa RH,Gaestel M,Gailly P,Gajewska M,Galliot B,Galy V,Ganesh S,Ganetzky B,Ganley IG,Gao F-B,Gao G (2012) Guidelines for the use and interpretation of assays for monitoring autophagy Autophagy, 8(4), 445 - 544.
  37. Duran R,Mencacci NE,Angeli AV,Shoai M,Deas E,Houlden H,Mehta A,Hughes D,Cox TM,Deegan P,Schapira AH,Lees AJ,Limousin P,Jarman PR,Bhatia KP,Wood NW,Hardy J,Foltynie T (2012) The glucocerobrosidase E326K variant predisposes to Parkinson's disease, but does not cause Gaucher's disease Movement Disorders.
  38. Mittag F,Büchel F,Saad M,Jahn A,Schulte C,Bochdanovits Z,Simón-Sánchez J,Nalls MA,Keller M,Hernandez DG,Gibbs JR,Lesage S,Brice A,Heutink P,Martinez M,Wood NW,Hardy J,Singleton AB,Zell A,Gasser T,Sharma M (2012) Use of support vector machines for disease risk prediction in genome-wide association studies: Concerns and opportunities Human Mutation.
  39. Cnop M,Igoillo-Esteve M,Rai M,Begu A,Serroukh Y,Depondt C,Musuaya AE,Marhfour I,Ladrière L,Moles Lopez X,Lefkaditis D,Moore F,Brion JP,Cooper JM,Schapira AH,Clark A,Koeppen AH,Marchetti P,Pandolfo M,Eizirik DL,Féry F (2012) Central role and mechanisms of β-cell dysfunction and death in friedreich ataxia-associated diabetes. Ann Neurol, 72(6), 971 - 982. 10.1002/ana.23698.
  40. Keller MF,Saad M,Bras J,Bettella F,Nicolaou N,Simón-Sánchez J,Mittag F,Büchel F,Sharma M,Gibbs JR,Schulte C,Moskvina V,Durr A,Holmans P,Kilarski LL,Guerreiro R,Hernandez DG,Brice A,Ylikotila P,Stefánsson H,Majamaa K,Morris HR,Williams N,Gasser T,Heutink P,Wood NW,Hardy J,Martinez M,Singleton AB,Nalls MA,International Parkinson's Disease Genomics Consortium (IPDGC) ,Wellcome Trust Case Control Consortium 2 (WTCCC2) (2012) Using genome-wide complex trait analysis to quantify 'missing heritability' in Parkinson's disease. Hum Mol Genet, 21(22), 4996 - 5009. 10.1093/hmg/dds335.
  41. McNeill A,Duran R,Hughes DA,Mehta A,Schapira AH (2012) A clinical and family history study of Parkinson's disease in heterozygous glucocerebrosidase mutation carriers. J Neurol Neurosurg Psychiatry, 83(8), 853 - 854. 10.1136/jnnp-2012-302402.
  42. Lascaratos G,Garway-Heath DF,Willoughby CE,Chau KY,Schapira AH (2012) Mitochondrial dysfunction in glaucoma: understanding genetic influences. Mitochondrion, 12(2), 202 - 212. 10.1016/j.mito.2011.11.004.
  43. Gardiner AR,Bhatia KP,Stamelou M,Dale RC,Kurian MA,Schneider SA,Wali GM,Counihan T,Schapira AH,Spacey SD,Valente EM,Silveira-Moriyama L,Teive HA,Raskin S,Sander JW,Lees A,Warner T,Kullmann DM,Wood NW,Hanna M,Houlden H (2012) PRRT2 gene mutations: from paroxysmal dyskinesia to episodic ataxia and hemiplegic migraine. Neurology, 79(21), 2115 - 2121. 10.1212/WNL.0b013e3182752c5a.
  44. Tan EK,Schapira AH (2011) New LRRK2 variants identified in Parkinson's disease. Eur J Neurol, 18(3), 369 - 370. 10.1111/j.1468-1331.2010.03163.x.
  45. Schapira AH,Gegg M (2011) Mitochondrial contribution to Parkinson's disease pathogenesis. Parkinsons Dis, 2011, 159160. 10.4061/2011/159160.
  46. Schapira AH,Hillbom M (2011) Publishing changes and information delivery in the clinical neurosciences. Eur J Neurol, 18(12), 1365 - 1372. 10.1111/j.1468-1331.2011.03594.x.
  47. Schapira AH (2011) Mitochondrial pathology in Parkinson's disease. Mt Sinai J Med, 78(6), 872 - 881. 10.1002/msj.20303.
  48. Schapira AH,Barone P,Hauser RA,Mizuno Y,Rascol O,Busse M,Salin L,Juhel N,Poewe W,Pramipexole ER Studies Group (2011) Extended-release pramipexole in advanced Parkinson disease: a randomized controlled trial. Neurology, 77(8), 767 - 774. 10.1212/WNL.0b013e31822affdb.
  49. Poewe W,Rascol O,Barone P,Hauser RA,Mizuno Y,Haaksma M,Salin L,Juhel N,Schapira AH,Pramipexole ER Studies Group (2011) Extended-release pramipexole in early Parkinson disease: a 33-week randomized controlled trial. Neurology, 77(8), 759 - 766. 10.1212/WNL.0b013e31822affb0.
  50. Schapira AH (2011) Aetiopathogenesis of Parkinson's disease. J Neurol, 258(Suppl 2), S307 - S310. 10.1007/s00415-011-6016-y.

Biography

CURRENT POSITION


Head of the Department of Clinical Neurosciences at UCL Institute of Neurology (ION), Professor of Neurology and Consultant Neurologist at the National Hospital for Neurology and Neurosurgery (NHNN) and the Royal Free Hospital.


 


BIOGRAPHICAL PROFILE


Undergraduate training as a Scholar at Westminster Medical School. Completed post-graduate training in London and was appointed to the University Chair of Clinical Neurosciences in 1990. Currently Vice Dean of the University College London Medical School, and Director of the Royal Free Campus. Visiting Professor at Harvard in 2009 and at Yale in 2010. Co-Editor in Chief of the European Journal of Neurology, and is on several Editorial Boards of neurology and neuroscience journals. Elected a Fellow of the Academy of Medical Sciences in 1999.


 


RESEARCH INTERESTS


Main research interests are in neurodegeneration and are focussed on the molecular pathogenesis of Parkinson’s disease (PD) and in the development of drugs for slowing the progress of this disease. Basic science expertise includes mitochondrial biology, and his group was the first to identify mitochondrial abnormalities as a contributing factor to the pathogenesis of Parkinson’s disease. He direct a large group investigating the interaction of PINK1, parkin and alpha synuclein mutations in PD and how these lead to neuronal dysfunction and death, and the biochemical relationship between glucocerebrosidase mutations and an increased risk for PD. His clinical research is focussed on PD and encompasses both symptomatic and disease modifying therapies. Principal investigator on several international clinical trials in the development of novel symptomatic treatments for PD and neuroprotection studies. Currently leading research on the clinical phenotype of patients at risk of developing PD including those with glucocerebrosidase mutations. This work is designed to identify clinical and biochemical features of prodromal PD. Co-Principal Investigator on the MRC-Wellcome Strategic Award in Neurodegeneration (6 million) and on the Wolfson Award (£20 million)

Qualifications

  • 1982: Member of the Royal College of Physicians, Royal College of Physicians
  • 1979: Bachelor of Medicine/Bachelor of Surgery, Charing Cross and Westminster Medical School
  • 1976: Bachelor of Science (Honours), King's College London

Keywords

  • Ageing
  • Alpha-synuclein
  • Anti-sense and morpholino approaches
  • Ataxias
  • Autophagy
  • Basal ganglia
  • Brain
  • Cell culture
  • Charcot-Marie-Tooth disease
  • Chronic inflammatory demyelinating polyneuropathy
  • Disorders of striated muscle
  • Dopamine
  • Dystonia
  • Enzyme assays
  • Fabry disease
  • Friederich's ataxia
  • Gait and balance disorders
  • Gaucher disease
  • Genetic manipulation (including knockout/knockin)
  • Genetics
  • Glutamate
  • Huntington's disease
  • Huntington's disease
  • Immunohistochemistry
  • Leber's congenital amaurosis
  • MRNA
  • Metabolic myopathies
  • Mitochondria
  • Mitochondrial encephalomyopathies
  • Motor Neurone Disease
  • Movement disorders
  • Neurodegeneration
  • Neurodegenerative diseases
  • Neuroimaging
  • Neuromuscular junction
  • Neuroscience
  • Parkinson's disease
  • Parkinson's disease
  • Protein aggregation
  • Protein misfolding
  • Recombinant protein expression