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Prof Sarah Tabrizi

  • Telephone:

    0203 448 4053

  • Fax:

    0207 611 0129

  • Email:

    s.tabrizi@ucl.ac.uk

  • Webpage:

    http://www.hdresearch.ucl.ac.uk

  • Address:

    3.06 Institute of Neurology,
    UCL Queen Square,
    London,
    WC1N 3BG

  • Appointments:

    Professor of Clinical Neurology (Consultant), Neurodegenerative Diseases, Institute of Neurology

Summary

Sarah graduated in biochemistry and medicine in Edinburgh, and was awarded the University Prize for Biological Sciences for BSc for highest First class degree, and 9 other prizes at the University of Edinburgh Medical School including the Gold Medal for most distinguished MBChB graduate and the Hewlett-Packard Prize for top Scottish Graduate. Sarah has worked on research into neurodegenerative diseases since her PhD as an MRC clinical training fellow at UCL (1996 – 1999). Her PhD work produced 11 peer-reviewed publications, three of which have over 200 citations. After near-completion of her clinical training in neurology and neurogenetics (1999-2003), she was successful in obtaining a Department of Health National Clinician Scientist Fellowship in the Dept of Neurodegenerative Disease, Institute of Neurology, UCL in 2002. Sarah was made a UCL Clinical Senior Lecturer and Hon. Consultant Neurologist in 2003, and promoted to Reader in 2007 and Professor in 2009.  In 2006, Sarah was awarded one of the first HEFCE/NIHR New Blood Clinical Senior Lecturerships, and in the last 5 years has generated over £7 million grant funding for her research. Since establishing her own independent research group in 2003, she has published over 160 peer-reviewed publications (76 of these in 2008-2012), including senior-author papers in high impact journals such as Molecular Cell, Lancet Neurology, Nature Communications, Journal of Experimental Medicine, and PNAS.  Her research has been the subject of a review article in New England Journal of Medicine, scientific articles in The Economist, Lancet Neurology, Nature Reviews Molecular Cell Biology and Scientific American, and has had widespread lay media coverage. Sarah serves on executive advisory panels including the UK HD association, the European HD Network and to NINDS/NIH.

Research Summary

At UCL’s Institute of Neurology, Sarah leads a synergistic research programme in neurodegeneration from basic cellular mechanisms of protein misfolding (using prions as a model tool) to translational clinical research. Sarah has had a major research interest in Huntington’s disease (HD) since her PhD, and Sarah’s team is spearheading a major effort to develop and test new disease-modifying therapies for HD. Her work leading TRACK-HD, an international study to understand the neurobiology of HD, has already identified biomarkers of disease progression that track the earliest phase of the neurodegenerative disease process in clinically-well individuals who carry the HD expansion mutation and those with early disease symptoms.  Her work at the laboratory level aims to translate these approaches to patients within the next few years. Sarah also identified a key role for the innate immune system in the pathogenesis of HD that has given rise to important new avenues for research into biomarkers and disease-modifying therapies for HD.  Sarah’s research programme is translating HD research directly from the lab to patients with a programme that is ultimately aimed at preventing the neurodegenerative disease process itself.

Research Activities

  • Cellular mechanisms underlying neurodegeneration
  • Invited Speaker
  • Neurodegeneration

Recent Publications

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

  1. Tabrizi SJ,Scahill RI,Owen G,Durr A,Leavitt BR,Roos RA,Borowsky B,Landwehrmeyer B,Frost C,Johnson H,Craufurd D,Reilmann R,Stout JC,Langbehn DR,the TRACK-HD Investigators (2013) Predictors of phenotypic progression and disease onset in premanifest and early-stage Huntington's disease in the TRACK-HD study: analysis of 36-month observational data. Lancet Neurol. 10.1016/S1474-4422(13)70088-7.
  2. Scahill RI,Hobbs NZ,Say MJ,Bechtel N,Henley SM,Hyare H,Langbehn DR,Jones R,Leavitt BR,Roos RA,Durr A,Johnson H,Lehéricy S,Craufurd D,Kennard C,Hicks SL,Stout JC,Reilmann R,Tabrizi SJ,TRACK-HD investigators (2013) Clinical impairment in premanifest and early Huntington's disease is associated with regionally specific atrophy. Hum Brain Mapp, 34(3), 519 - 529. 10.1002/hbm.21449.
  3. Lansdorp BM,Tabrizi SJ,Dittmore A,Saleh OA (2013) A high-speed magnetic tweezer beyond 10,000 frames per second. Rev Sci Instrum, 84(4), 044301. 10.1063/1.4802678.
  4. Douglas I,Evans S,Rawlins MD,Smeeth L,Tabrizi SJ,Wexler NS (2013) Juvenile Huntington's disease: a population-based study using the General Practice Research Database. BMJ Open, 3(4). 10.1136/bmjopen-2012-002085.
  5. Träger U,Tabrizi SJ (2013) Peripheral inflammation in neurodegeneration. J Mol Med (Berl), 91(6), 673 - 681. 10.1007/s00109-013-1026-0.
  6. Borowsky B,Warner J,Leavitt BR,Tabrizi SJ,Roos RA,Durr A,Becker C,Sampaio C,Tobin AJ,Schulman H (2013) 8OHdG is not a biomarker for Huntington disease state or progression. Neurology, 80(21), 1934 - 1941. 10.1212/WNL.0b013e318293e1a1.
  7. Labuschagne I,Jones R,Callaghan J,Whitehead D,Dumas EM,Say MJ,Hart EP,Justo D,Coleman A,Dar Santos RC,Frost C,Craufurd D,Tabrizi SJ,Stout JC,TRACK-HD Investigators (2013) Emotional face recognition deficits and medication effects in pre-manifest through stage-II Huntington's disease. Psychiatry Res, 207(1-2), 118 - 126. 10.1016/j.psychres.2012.09.022.
  8. van den Bogaard SJ,Dumas EM,Hart EP,Milles J,Reilmann R,Stout JC,Craufurd D,Gibbard CR,Tabrizi SJ,van Buchem MA,van der Grond J,Roos RA (2013) Magnetization transfer imaging in premanifest and manifest huntington disease: a 2-year follow-up. AJNR Am J Neuroradiol, 34(2), 317 - 322. 10.3174/ajnr.A3303.
  9. Georgiou-Karistianis N,Scahill R,Tabrizi SJ,Squitieri F,Aylward E (2013) Structural MRI in Huntington's disease and recommendations for its potential use in clinical trials. Neurosci Biobehav Rev, 37(3), 480 - 490. 10.1016/j.neubiorev.2013.01.022.
  10. Holl AK,Wilkinson L,Tabrizi SJ,Painold A,Jahanshahi M (2013) Selective executive dysfunction but intact risky decision-making in early Huntington's disease. Mov Disord. 10.1002/mds.25388.
  11. Scheller E,Abdulkadir A,Peter J,Tabrizi SJ,Frackowiak RS,Klöppel S (2013) Interregional compensatory mechanisms of motor functioning in progressing preclinical neurodegeneration. Neuroimage, 75C, 146 - 154. 10.1016/j.neuroimage.2013.02.058.
  12. Beck J,Poulter M,Hensman D,Rohrer JD,Mahoney CJ,Adamson G,Campbell T,Uphill J,Borg A,Fratta P,Orrell RW,Malaspina A,Rowe J,Brown J,Hodges J,Sidle K,Polke JM,Houlden H,Schott JM,Fox NC,Rossor MN,Tabrizi SJ,Isaacs AM,Hardy J,Warren JD,Collinge J,Mead S (2013) Large C9orf72 hexanucleotide repeat expansions are seen in multiple neurodegenerative syndromes and are more frequent than expected in the UK population. Am J Hum Genet, 92(3), 345 - 353. 10.1016/j.ajhg.2013.01.011.
  13. Evans SJW,Douglas I,Rawlins MD,Wexler NS,Tabrizi SJ,Smeeth L (2013) Prevalence of adult Huntington's disease in the UK based on diagnoses recorded in general practice records Journal of Neurology, Neurosurgery and Psychiatry.
  14. Kwan W,Magnusson A,Chou A,Adame A,Carson MJ,Kohsaka S,Masliah E,Möller T,Ransohoff R,Tabrizi SJ,Björkqvist M,Muchowski PJ (2012) Bone marrow transplantation confers modest benefits in mouse models of Huntington's disease. J Neurosci, 32(1), 133 - 142. 10.1523/JNEUROSCI.4846-11.2012.
  15. Scahill RI,Wild EJ,Tabrizi SJ (2012) Biomarkers for Huntington's disease: an update. Expert Opin Med Diagn, 6(5), 371 - 375. 10.1517/17530059.2012.701205.
  16. Dumas EM,van den Bogaard SJ,Ruber ME,Reilman RR,Stout JC,Craufurd D,Hicks SL,Kennard C,Tabrizi SJ,van Buchem MA,van der Grond J,Roos RA (2012) Early changes in white matter pathways of the sensorimotor cortex in premanifest Huntington's disease. Hum Brain Mapp, 33(1), 203 - 212. 10.1002/hbm.21205.
  17. Andre R,Wild EJ,Tabrizi SJ (2012) Huntington's disease: fighting on many fronts. Brain, 135(Pt 4), 998 - 1001. 10.1093/brain/aws060.
  18. Andre R,Tabrizi SJ (2012) Misfolded PrP and a novel mechanism of proteasome inhibition PRION, 6(1), 32 - 36. 10.4161/pri.6.1.18272.
  19. Andre R,Tabrizi SJ (2012) Misfolded PrP and a novel mechanism of proteasome inhibition. Prion, 6(1).
  20. Weiss A,Trager U,Wild E,Grueninger S,Farmer R,Landles C,Scahill R,Lahiri N,Haider S,MacDonald D,Frost C,Bates G,Bilbe G,Kuhn R,Andre R,Tabrizi SJ (2012) Mutant huntingtin fragmentation in immune cells tracks Huntington’s disease progression Journal of Clinical Investigation.
  21. Bouchard J,Truong J,Bouchard K,Dunkelberger D,Desrayaud S,Moussaoui S,Tabrizi SJ,Stella N,Muchowski PJ (2012) Cannabinoid receptor 2 signaling in peripheral immune cells modulates disease onset and severity in mouse models of Huntington's disease. J Neurosci, 32(50), 18259 - 18268. 10.1523/JNEUROSCI.4008-12.2012.
  22. Tabrizi S (2012) TRACK-HD AND TRACK-ON HD: YIELDING NEW INSIGHTS IN HUNTINGTON'S DISEASE JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY, 83(10). 10.1136/jnnp-2012-303538.2.
  23. Kwan W,Träger U,Davalos D,Chou A,Bouchard J,Andre R,Miller A,Weiss A,Giorgini F,Cheah C,Möller T,Stella N,Akassoglou K,Tabrizi SJ,Muchowski PJ (2012) Mutant huntingtin impairs immune cell migration in Huntington disease. J Clin Invest, 122(12), 4737 - 4747. 10.1172/JCI64484.
  24. Olsson MG,Davidsson S,Muhammad ZD,Lahiri N,Tabrizi SJ,Akerstrom B,Bjorkqvist M (2012) Increased levels of hemoglobin and alpha1-microglobulin in Huntington's disease. Front Biosci (Elite Ed), 4, 950 - 957.
  25. Tabrizi SJ,Reilmann R,Roos RA,Durr A,Leavitt B,Owen G,Jones R,Johnson H,Craufurd D,Hicks SL,Kennard C,Landwehrmeyer B,Stout JC,Borowsky B,Scahill RI,Frost C,Langbehn DR,TRACK-HD investigators (2012) Potential endpoints for clinical trials in premanifest and early Huntington's disease in the TRACK-HD study: analysis of 24 month observational data. Lancet Neurol, 11(1), 42 - 53. 10.1016/S1474-4422(11)70263-0.
  26. Weiss A,Traeger U,Wild E,Grueninger S,Farmer R,Landles C,Scahill R,Lahiri N,Haider S,Macdonald D,Frost C,Bates G,Bilbe G,Kuhn R,Andre R,Tabrizi S (2012) Mutant huntingtin fragmentation in immune cells tracks Huntington’s disease progression Journal of Clinical Investigation, In press.
  27. Fonteijn HM,Modat M,Clarkson MJ,Barnes J,Lehmann M,Hobbs NZ,Scahill RI,Tabrizi SJ,Ourselin S,Fox NC,Alexander DC (2012) An event-based model for disease progression and its application in familial Alzheimer's disease and Huntington's disease. Neuroimage, 60(3), 1880 - 1889. 10.1016/j.neuroimage.2012.01.062.
  28. Novak MJ,Warren JD,Henley SM,Draganski B,Frackowiak RS,Tabrizi SJ (2012) Altered brain mechanisms of emotion processing in pre-manifest Huntington's disease. Brain, 135(Pt 4), 1165 - 1179. 10.1093/brain/aws024.
  29. Holl AK,Wilkinson L,Tabrizi SJ,Painold A,Jahanshahi M (2012) Probabilistic classification learning with corrective feedback is selectively impaired in early Huntington's disease--evidence for the role of the striatum in learning with feedback. Neuropsychologia, 50(9), 2176 - 2186. 10.1016/j.neuropsychologia.2012.05.021.
  30. Mead S,Beck J,Poulter M,Rohrer J,Adamson G,Hensman D,Polke J,Campbell T,Uphill J,Borg A,Tabrizi S,Isaacs A,Hardy J,Warren J,Collinge J (2012) Large C9ORF72 hexanucleotide expansions arise spontaneously in the healthy population but can be distinguished from pathogenic mutations by Sothern Blotting DEMENTIA AND GERIATRIC COGNITIVE DISORDERS, 33, 285 - 286.
  31. Quarrell OW,Handley O,O'Donovan K,Dumoulin C,Ramos-Arroyo M,Biunno I,Bauer P,Kline M,Landwehrmeyer GB,Network EHD (2012) Discrepancies in reporting the CAG repeat lengths for Huntington's disease EUROPEAN JOURNAL OF HUMAN GENETICS, 20(1), 20 - 26. 10.1038/ejhg.2011.136.
  32. Delmaire C,Dumas EM,Sharman MA,van den Bogaard SJ,Valabregue R,Jauffret C,Justo D,Reilmann R,Stout JC,Craufurd D,Tabrizi SJ,Roos RA,Durr A,Lehéricy S (2012) The structural correlates of functional deficits in early huntington's disease. Hum Brain Mapp. 10.1002/hbm.22055.
  33. Stout JC,Jones R,Labuschagne I,O'Regan AM,Say MJ,Dumas EM,Queller S,Justo D,Santos RD,Coleman A,Hart EP,Dürr A,Leavitt BR,Roos RA,Langbehn DR,Tabrizi SJ,Frost C (2012) Evaluation of longitudinal 12 and 24 month cognitive outcomes in premanifest and early Huntington's disease. J Neurol Neurosurg Psychiatry, 83(7), 687 - 694. 10.1136/jnnp-2011-301940.
  34. Henley SM,Novak MJ,Frost C,King J,Tabrizi SJ,Warren JD (2012) Emotion recognition in Huntington's disease: a systematic review. Neurosci Biobehav Rev, 36(1), 237 - 253. 10.1016/j.neubiorev.2011.06.002.
  35. Müller HP,Süssmuth SD,Landwehrmeyer GB,Ludolph A,Tabrizi SJ,Kloppel S,Kassubek J (2011) Stability effects on results of diffusion tensor imaging analysis by reduction of the number of gradient directions due to motion artifacts: an application to presymptomatic Huntington's disease. PLoS Curr, 3, RRN1292. 10.1371/currents.RRN1292.
  36. Burgunder JM,Schöls L,Baets J,Andersen P,Gasser T,Szolnoki Z,Fontaine B,Van Broeckhoven C,Di Donato S,De Jonghe P,Lynch T,Mariotti C,Spinazzola A,Tabrizi SJ,Tallaksen C,Zeviani M,Harbo HF,Finsterer J,EFNS (2011) EFNS guidelines for the molecular diagnosis of neurogenetic disorders: motoneuron, peripheral nerve and muscle disorders. Eur J Neurol, 18(2), 207 - 217. 10.1111/j.1468-1331.2010.03069.x.
  37. Orth M,European Huntington's Disease Network ,Handley OJ,Schwenke C,Dunnett S,Wild EJ,Tabrizi SJ,Landwehrmeyer GB (2011) Observing Huntington's disease: the European Huntington's Disease Network's REGISTRY. J Neurol Neurosurg Psychiatry, 82(12), 1409 - 1412. 10.1136/jnnp.2010.209668.
  38. Novak MJ,Tabrizi SJ (2011) A man with deteriorating ability to live independently. BMJ, 343, d7463.
  39. Saft C,Epplen JT,Wieczorek S,Landwehrmeyer GB,Roos RA,de Yebenes JG,Dose M,Tabrizi SJ,Craufurd D,REGISTRY Investigators of the European Huntington's Disease Network ,Arning L (2011) NMDA receptor gene variations as modifiers in Huntington disease: a replication study. PLoS Curr, 3, RRN1247. 10.1371/currents.RRN1247.
  40. Wild E,Magnusson A,Lahiri N,Krus U,Orth M,Tabrizi SJ,Björkqvist M (2011) Abnormal peripheral chemokine profile in Huntington's disease. PLoS Curr, 3, RRN1231. 10.1371/currents.RRN1231.
  41. Goold R,Rabbanian S,Sutton L,Andre R,Arora P,Moonga J,Clarke AR,Schiavo G,Jat P,Collinge J,Tabrizi SJ (2011) Rapid cell-surface prion protein conversion revealed using a novel cell system NAT COMMUN, 2. 10.1038/ncomms1282.
  42. Ross CA,Tabrizi SJ (2011) Huntington's disease: from molecular pathogenesis to clinical treatment. Lancet Neurol, 10(1), 83 - 98. 10.1016/S1474-4422(10)70245-3.
  43. Novak MJU,Tabrizi SJ (2011) A man with deteriorating ability to live independently BRITISH MEDICAL JOURNAL, 343. 10.1136/bmj.d7463.
  44. van den Bogaard SJ,Dumas EM,Acharya TP,Johnson H,Langbehn DR,Scahill RI,Tabrizi SJ,van Buchem MA,van der Grond J,Roos RA,TRACK-HD Investigator Group (2011) Early atrophy of pallidum and accumbens nucleus in Huntington's disease. J Neurol, 258(3), 412 - 420. 10.1007/s00415-010-5768-0.
  45. Novak MJ,Tabrizi SJ (2011) Huntington's disease: clinical presentation and treatment. Int Rev Neurobiol, 98, 297 - 323. 10.1016/B978-0-12-381328-2.00013-4.
  46. Zuccato C,Marullo M,Vitali B,Tarditi A,Mariotti C,Valenza M,Lahiri N,Wild EJ,Sassone J,Ciammola A,Bachoud-Lèvi AC,Tabrizi SJ,Di Donato S,Cattaneo E (2011) Brain-derived neurotrophic factor in patients with Huntington's disease. PLoS One, 6(8), e22966. 10.1371/journal.pone.0022966.
  47. Deriziotis P,André R,Smith DM,Goold R,Kinghorn KJ,Kristiansen M,Nathan JA,Rosenzweig R,Krutauz D,Glickman MH,Collinge J,Goldberg AL,Tabrizi SJ (2011) Misfolded PrP impairs the UPS by interaction with the 20S proteasome and inhibition of substrate entry. EMBO J, 30(15), 3065 - 3077. 10.1038/emboj.2011.224.
  48. Müller HP,Glauche V,Novak MJ,Nguyen-Thanh T,Unrath A,Lahiri N,Read J,Say MJ,Tabrizi SJ,Kassubek J,Kloppel S (2011) Stability of white matter changes related to Huntington's disease in the presence of imaging noise: a DTI study. PLoS Curr, 3, RRN1232. 10.1371/currents.RRN1232.
  49. Hobbs NZ,Pedrick AV,Say MJ,Frost C,Dar Santos R,Coleman A,Sturrock A,Craufurd D,Stout JC,Leavitt BR,Barnes J,Tabrizi SJ,Scahill RI (2011) The structural involvement of the cingulate cortex in premanifest and early Huntington's disease. Mov Disord, 26(9), 1684 - 1690. 10.1002/mds.23747.
  50. Gaughwin PM,Ciesla M,Lahiri N,Tabrizi SJ,Brundin P,Björkqvist M (2011) Hsa-miR-34b is a plasma-stable microRNA that is elevated in pre-manifest Huntington's disease. Hum Mol Genet, 20(11), 2225 - 2237. 10.1093/hmg/ddr111.

Biography

Sarah graduated in biochemistry and medicine in Edinburgh, and was awarded the University Prize for Biological Sciences for BSc for highest First class degree, and 9 other prizes at the University of Edinburgh Medical School including the Gold Medal for most distinguished MBChB graduate and the Hewlett-Packard Prize for top Scottish Graduate. Sarah has worked on research into neurodegenerative diseases since her PhD as an MRC clinical training fellow at UCL (1996 – 1999). Her PhD work produced 11 peer-reviewed publications, three of which have over 200 citations. After near-completion of her clinical training in neurology and neurogenetics (1999-2003), she was successful in obtaining a Department of Health National Clinician Scientist Fellowship in the Dept of Neurodegenerative Disease, Institute of Neurology, UCL in 2002. Sarah was made a UCL Clinical Senior Lecturer and Hon. Consultant Neurologist in 2003, and promoted to Reader in 2007 and Professor in 2009.  In 2006, Sarah was awarded one of the first HEFCE/NIHR New Blood Clinical Senior Lecturerships, and in the last 5 years has generated over £7 million grant funding for her research. Since establishing her own independent research group in 2003, she has published over 160 peer-reviewed publications (76 of these in 2008-2012), including senior-author papers in high impact journals such as Molecular Cell, Lancet Neurology, Nature Communications, Journal of Experimental Medicine, and PNAS.  Her research has been the subject of a review article in New England Journal of Medicine, scientific articles in The Economist, Lancet Neurology, Nature Reviews Molecular Cell Biology and Scientific American, and has had widespread lay media coverage. Sarah serves on executive advisory panels including the UK HD association, the European HD Network and to NINDS/NIH.

Qualifications

  • 2007: Fellow of the Royal College of Physicians, Royal College of Physicians
  • 2000: Doctor of Philosophy, University College London
  • 1995: Member of the Royal College of Physicians, Royal College of Physicians
  • 1992: Bachelor of Medicine, Bachelor of Surgery, University of Edinburgh
  • 1986: Bachelor of Science (Honours), Heriot-Watt University

Keywords

  • Cell culture
  • Cellular Mechanisms of Neurodegeneration
  • Confocal microscopy
  • Cross-sectional and cohort studies
  • Enzyme assays
  • Eye movement recording
  • Fluorescence microscopy techniques
  • Genetic manipulation (including knockout/knockin)
  • Huntington's disease
  • Image analysis
  • Light microscopic techniques
  • Magnetic resonance imaging (MRI)
  • Microarrays
  • Molecular imaging
  • Neurodegeneration
  • Neurodegeneration
  • Neurodegenerative diseases
  • Prion diseases
  • Protein aggregation
  • Protein misfolding
  • Protein transport/localisation
  • Proteomics
  • Transgenic mice
  • Transmissible spongiform encephalopathies (TSEs)
  • transmissible spongiform encephalopathies (TSEs)