Research Topics
Genomes and GenesSpecies | Sarah J TabriziSummaryAffiliation: University College London Country: UK Publications
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Detail Information
Publications
Biomarkers for Huntington's diseaseEdward J Wild
UCL Institute of Neurology, Department of Neurodegenerative Disease, Queen Square, London WC1N 3BG, UK 44 8451 555 000 44 207 676 2180
Expert Opin Med Diagn 2:47-62. 2008..A conceptual framework and pipeline for evaluating the large number of potential HD biomarkers is presented, and the need for systematic head-to-head comparison of candidate markers is highlighted...
Expressed Alu repeats as a novel, reliable tool for normalization of real-time quantitative RT-PCR dataManuela Marullo
Department of Pharmacological Sciences and Center for Stem Cell Research, University of Milan, 9 Via Balzaretti, Milan, 20133, Italy
Genome Biol 11:R9. 2010..This result is particularly important for clinical diagnosis and biomarker validation studies based on mRNA detection in human blood...
Biomarkers for neurodegenerative diseasesSusie M D Henley
Dementia Research Centre, Institute of Neurology, University College London, London, UK
Curr Opin Neurol 18:698-705. 2005..This review summarizes the field of biomarker research in the major neurodegenerative diseases...- Biological and clinical changes in premanifest and early stage Huntington's disease in the TRACK-HD study: the 12-month longitudinal analysisSarah J Tabrizi
UCL Institute of Neurology, University College London, Department of Neurodegenerative Disease, Queen Square, London, UK
Lancet Neurol 10:31-42. 2011..We report 12-month longitudinal changes, building on baseline findings... - Relationship between CAG repeat length and brain volume in premanifest and early Huntington's diseaseSusie M D Henley
Dementia Research Centre, Institute of Neurology, University College, London, UK
J Neurol 256:203-12. 2009..Overall we have demonstrated that increased CAG repeat length is associated with atrophy in extra-striatal as well as striatal regions, which has implications for the monitoring of disease-modifying therapies in the condition... - Biological and clinical manifestations of Huntington's disease in the longitudinal TRACK-HD study: cross-sectional analysis of baseline dataSarah J Tabrizi
UCL Institute of Neurology, University College London, Queen Square, London, UK
Lancet Neurol 8:791-801. 2009..Our aim was to identify sensitive and reliable biomarkers in premanifest carriers of mutated HTT and in individuals with early HD that could provide essential methodology for the assessment of therapeutic interventions... - The progression of regional atrophy in premanifest and early Huntington's disease: a longitudinal voxel-based morphometry studyNicola Z Hobbs
Dementia Research Centre, UCL Institute of Neurology, University College London, London, UK
J Neurol Neurosurg Psychiatry 81:756-63. 2010..They may also provide tools for assessing disease-modifying interventions. The authors investigated the progression of regional atrophy in premanifest and early HD compared with controls... - Cortical dopamine dysfunction in symptomatic and premanifest Huntington's disease gene carriersNicola Pavese
MRC Clinical Sciences Centre and Division of Neuroscience, Faculty of Medicine, Imperial College, Hammersmith Hospital, London, UK
Neurobiol Dis 37:356-61. 2010..It is an early event in HD pathophysiology and could contribute to the impairment in neuropsychological performance in these patients... - Potential endpoints for clinical trials in premanifest and early Huntington's disease in the TRACK-HD study: analysis of 24 month observational dataSarah J Tabrizi
UCL Institute of Neurology, University College London, Queen Square, London, UK
Lancet Neurol 11:42-53. 2012..TRACK-HD is a prospective observational biomarker study in premanifest and early Huntington's disease (HD). In this report we define a battery of potential outcome measures for therapeutic trials... - Rate and acceleration of whole-brain atrophy in premanifest and early Huntington's diseaseEdward J Wild
Dementia Research Centre, UCL Institute of Neurology, London, United Kingdom
Mov Disord 25:888-95. 2010..We conclude that the study of whole-brain atrophy has the potential to inform our understanding of the neurobiology of HD and warrants further study as one means of assessing the outcomes of future clinical trials... - Microglial activation in regions related to cognitive function predicts disease onset in Huntington's disease: a multimodal imaging studyMarios Politis
Department of Clinical Neurosciences and MRC Clinical Sciences Centre, Faculty of Medicine, Hammersmith Hospital, Imperial College London, London, UK
Hum Brain Mapp 32:258-70. 2011..These data suggest that pathologically activated microglia in AST and other areas related to cognitive function, maybe better predictors of clinical onset and stresses the importance of early cognitive assessment in HD... - Abnormal motor cortex plasticity in premanifest and very early manifest Huntington diseaseMichael Orth
Sobell Department of Motor Neuroscience and Movement Disorders, Institute of Neurology, Queen Square, London, UK
J Neurol Neurosurg Psychiatry 81:267-70. 2010.... - Whole-brain atrophy as a measure of progression in premanifest and early Huntington's diseaseSusie M D Henley
Dementia Research Centre, Institute of Neurology, National Hospital for Neurology and Neurosurgery, University College London, Queen Square, London, United Kingdom
Mov Disord 24:932-6. 2009..Higher atrophy rates were associated with longer CAG repeat length. MRI-based measures of whole-brain atrophy may have potential as a measure of progression in HD... - Altered brain mechanisms of emotion processing in pre-manifest Huntington's diseaseMarianne J U Novak
Wellcome Trust Centre for Neuroimaging, University College London Institute of Neurology, Queen Square, London WC1N 3BG, UK
Brain 135:1165-79. 2012..Overall, these findings suggest that pathophysiological effects of Huntington's disease may precede the development of overt clinical symptoms and detectable cerebral atrophy... - An event-based model for disease progression and its application in familial Alzheimer's disease and Huntington's diseaseHubert M Fonteijn
Centre for Medical Image Computing, University College London, Gower Street, WC1E 6BT, London, UK
Neuroimage 60:1880-9. 2012..The model and its formulation extend naturally to a wide range of other diseases and developmental processes and accommodate cross-sectional and longitudinal input data... - Probabilistic classification learning with corrective feedback is selectively impaired in early Huntington's disease--evidence for the role of the striatum in learning with feedbackAnna K Holl
Sobell Department of Motor Neuroscience and Movement Disorders, UCL, Institute of Neurology, Queen Square, London, WC1N3BG, United Kingdom
Neuropsychologia 50:2176-86. 2012..Our findings are consistent with imaging evidence showing recruitment of the caudate during FB based WPT learning, while the MTL is associated with PA based learning... - Automated quantification of caudate atrophy by local registration of serial MRI: evaluation and application in Huntington's diseaseNicola Z Hobbs
Dementia Research Centre, UCL Institute of Neurology, University College London, UK
Neuroimage 47:1659-65. 2009..We describe and evaluate an automated technique based on a local registration and boundary shift integral (BSI) approach at the caudate-CSF and caudate-white matter boundaries; caudate boundary shift integral (CBSI)... - The structural involvement of the cingulate cortex in premanifest and early Huntington's diseaseNicola Z Hobbs
Department of Neurodegenerative Disease, UCL Institute of Neurology, University College London, London, United Kingdom
Mov Disord 26:1684-90. 2011..Cingulate atrophy may contribute to deficits in mood, emotional processing, and visual working memory in Huntington's disease... - Abnormal explicit but normal implicit sequence learning in premanifest and early Huntington's diseaseSusanne A Schneider
Sobell Department of Motor Neuroscience and Movement Disorders, UCL, Institute of Neurology, Queen Square, London, United Kingdom
Mov Disord 25:1343-9. 2010..Explicit sequence learning may be a useful cognitive biomarker for HD progression... - Clinical impairment in premanifest and early Huntington's disease is associated with regionally specific atrophyRachael I Scahill
Department of Neurodegenerative Disease, UCL Institute of Neurology, London, United Kingdom
Hum Brain Mapp 34:519-29. 2013..Hum Brain Mapp, 2013. © 2011 Wiley Periodicals, Inc... - Defective emotion recognition in early HD is neuropsychologically and anatomically genericSusie M D Henley
Dementia Research Centre, Institute of Neurology, University College London, UK
Neuropsychologia 46:2152-60. 2008..Even in early HD there is a wide-ranging impairment in recognition of negative emotions denoting 'threat'. Our findings implicate a generic fronto-subcortical network in the pathogenesis of these emotion recognition deficits... - Huntington's disease phenocopies are clinically and genetically heterogeneousEdward J Wild
Department of Neurodegenerative Disease, UCL Institute of Neurology National Hospital for Neurology and Neurosurgery, Queen Square, London, United Kingdom
Mov Disord 23:716-20. 2008..When undertaken, it should be clinically directed and patients and clinicians should be prepared for the low probability of reaching a genetic diagnosis in this group of patients... - Huntington's disease: clinical presentation and treatmentMarianne J U Novak
The National Hospital for Neurology and Neurosurgery, London, UK
Int Rev Neurobiol 98:297-323. 2011..We then describe the pharmacological and nonpharmacological options available for management of specific symptoms... - Plasma neurofilament heavy chain levels in Huntington's diseaseEdward J Wild
Department of Neurodegenerative Disease, Institute of Neurology, National Hospital for Neurology and Neurosurgery, University College London, Queen Square, London WC1N 3BG, UK
Neurosci Lett 417:231-3. 2007..We conclude that plasma NfH concentration is not a useful biomarker of onset or progression in HD... - Emotion recognition in Huntington's disease: a systematic reviewSusie M D Henley
Research Department of Clinical, Educational and Health Psychology, University College London, London WC1E 6BT, UK
Neurosci Biobehav Rev 36:237-53. 2012..Future work should focus on using more ecologically-valid tests, and testing inter-modality differences... - Oculomotor deficits indicate the progression of Huntington's diseaseStephen L Hicks
Department of Clinical Neuroscience, Imperial College, London, UK
Prog Brain Res 171:555-8. 2008..These results suggest that saccadometry and a cognitively demanding oculomotor task may be useful as an indicator of function in HD... - Visuomotor integration deficits precede clinical onset in Huntington's diseaseMiranda J Say
UCL Institute of Neurology, University College London, Queen Square, London, WC1N 3BG, UK
Neuropsychologia 49:264-70. 2011..However, given evidence of posterior cortical atrophy in premanifest HD, we predicted visuomotor integration would be adversely affected, with greater impairment under conditions of indirect visual feedback... - Large C9orf72 hexanucleotide repeat expansions are seen in multiple neurodegenerative syndromes and are more frequent than expected in the UK populationJon Beck
Medical Research Council Prion Unit, Department of Neurodegenerative Disease, University College London Institute of Neurology, Queen Square, London, UK
Am J Hum Genet 92:345-53. 2013..C9orf72-related disease might mimic several neurodegenerative disorders and, with potentially 90,000 carriers in the United Kingdom, is more common than previously realized... - Misfolded PrP and a novel mechanism of proteasome inhibitionRalph Andre
Department of Neurodegenerative Disease, University College London Institute of Neurology, Queen Square, London, UK
Prion 6:32-6. 2012..Targeting the UPS to restore proteostasis in neurodegenerative disorders in which misfolded proteins accumulate offers a possible target for therapeutic intervention... - 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 diseaseHans Peter Müller
Dept of Neurology, University of Ulm, Ulm, Germany Department of Neurodegenerative Disease, UCL Institute of Neurology, London, UK and Freiburg Brain Imaging, Department of Psychiatry and Psychotherapy University of Freiburg
PLoS Curr 3:RRN1292. 2011..e. without GD corrupted by motion) were observed even for numbers of eliminated GD up to 13. Even in one data set in which 46 GD had to be eliminated, the results showed a moderate agreement... - Abnormal motor cortex excitability in preclinical and very early Huntington's diseaseSven Schippling
Sobell Department of Motor Neuroscience and Movement Disorders, Institute of Neurology, Queen Square, London, United Kingdom
Biol Psychiatry 65:959-65. 2009..In Huntington's disease (HD), the cerebral cortex is involved early in the disease process. The study of cortical excitability can therefore contribute to understanding HD pathophysiology... - Hypothalamic involvement in Huntington's disease: an in vivo PET studyMarios Politis
Division of Clinical Neurosciences and MRC Clinical Sciences Centre, Faculty of Medicine, Hammersmith Hospital, Imperial College London, London, UK
Brain 131:2860-9. 2008.... - Genetic risk factors for variant Creutzfeldt-Jakob disease: a genome-wide association studySimon Mead
Medical Research Council Prion Unit and Department of Neurodegenerative Disease, Institute of Neurology, Queen Square, London, UK
Lancet Neurol 8:57-66. 2009.... - Prions and the proteasomePelagia Deriziotis
Department of Neurodegenerative Disease, Institute of Neurology, University College London, London, WC1N 3BG, UK
Biochim Biophys Acta 1782:713-22. 2008..Here we review potential interactions between prions and the proteasome outlining how the UPS may be implicated in prion-mediated neurodegeneration... - An ITPR1 gene deletion causes spinocerebellar ataxia 15/16: a genetic, clinical and radiological descriptionMarianne J U Novak
Department of Neurogenetics, The National Hospital for Neurology and Neurosurgery, London, UK
Mov Disord 25:2176-82. 2010..Patients with nonprogressive or slowly progressive ataxia should be screened for ITPR1 defects... - White matter connections reflect changes in voluntary-guided saccades in pre-symptomatic Huntington's diseaseStefan Kloppel
Wellcome Trust Centre for Neuroimaging, Institute if Neurology, UCL, London, UK
Brain 131:196-204. 2008..Our findings suggest a specific patho-physiological basis for these symptoms by indicating selective vulnerability of the associated white matter tracts... - Misfolded PrP impairs the UPS by interaction with the 20S proteasome and inhibition of substrate entryPelagia Deriziotis
Department of Neurodegenerative Disease, University College London Institute of Neurology, Queen Square, London, UK
EMBO J 30:3065-77. 2011..A similar inhibition of substrate entry into the proteasome may occur in other neurodegenerative diseases where misfolded β-sheet-rich proteins accumulate... - Huntington's disease phenocopy syndromesEdward J Wild
UCL Institute of Neurology, National Hospital for Neurology and Neurosurgery, London, UK
Curr Opin Neurol 20:681-7. 2007..The differential diagnosis of such Huntington's disease phenocopy syndromes has not recently been reviewed... - Abnormal peripheral chemokine profile in Huntington's diseaseEdward Wild
UCL Institute of Neurology, London, UK Bristol University, UK Department of Experimental Medical Science, Wallenberg Neuroscience Center, Lund University, Lund, Sweden Department of Neurodegenerative Disease, UCL Institute of Neurology, London, UK Lund University Diabetes Center Malmö Sweden and Department of Neurology, University of Ulm, Ulm, Germany
PLoS Curr 3:RRN1231. 2011..We conclude that, like cytokines, chemokines may be linked to the pathogenesis of HD, and that immune molecules may be valuable in tracking and exploring the pathogenesis of HD... - Biomarkers for Huntington's disease: an updateRachael I Scahill
UCL Institute of Neurology, TRACK HD, Department of Neurodegenerative Disease, Queen Square, London WC1N 3BG, UK
Expert Opin Med Diagn 6:371-5. 2012..Building on a tradition of collaborative research in HD, great advances have been made in the field since that time and a range of outcome measures are now being recommended in order to assess efficacy in future therapeutic trials... - Stability of white matter changes related to Huntington's disease in the presence of imaging noise: a DTI studyHans Peter Müller
Dept of Neurology, University of Ulm, Ulm, Germany Freiburg Brain Imaging, Department of Neurology, University Freiburg Medical Center, Germany Wellcome Trust Centre for Neuroimaging, UCL Institute of Neurology, London, UK Department of Neuroradiology, University Medical Center Freiburg, Germany Department of Neurodegenerative Disease, UCL Institute of Neurology, London, UK and Freiburg Brain Imaging, Department of Psychiatry and Psychotherapy University of Freiburg
PLoS Curr 3:RRN1232. 2011..These findings demonstrate the robustness of the FA value in the presence of movement and thus encourage multi-center imaging studies in HD... - Models of Parkinson's diseaseMichael Orth
Department of Clinical and Experimental Epilepsy, Institute of Neurology, London, United Kingdom
Mov Disord 18:729-37. 2003..This study briefly reviews toxin-induced models and the genetics of PD. It focuses on recently developed animal models of PD, as well as in vitro approaches to model the disease... - Spinocerebellar ataxia type 17: extension of phenotype with putaminal rim hyperintensity on magnetic resonance imagingClement T Loy
National Hospital for Neurology and Neurosurgery, Queen Square, London, United Kingdom
Mov Disord 20:1521-3. 2005..This is the first case of SCA-17 reported to show MRI signal change in the basal ganglia, and extends the phenotypic manifestation of SCA-17... - Mouse models as a tool for understanding neurodegenerative diseasesAzlina Ahmad-Annuar
Institute of Neurology, National Hospital of Neurology and Neurosurgery, London, UK
Curr Opin Neurol 16:451-8. 2003..of the disorder in the mouse. This approach is clearly bearing fruit for our understanding and treatment of human neurodegeneration... - Microglial activation in presymptomatic Huntington's disease gene carriersYen F Tai
MRC Clinical Sciences Centre, Imperial College London, Hammersmith Hospital, Du Cane Road, London W12 0NN, UK
Brain 130:1759-66. 2007..PK PET may be a useful marker of active subclinical disease and a means of investigating the efficacy of neuroprotection strategies in PGCs... - Gene expression in Huntington's disease skeletal muscle: a potential biomarkerAndrew D Strand
Clinical Research Division, Fred Hutchinson Cancer Research Center, Seattle, WA 98109, USA
Hum Mol Genet 14:1863-76. 2005..Furthermore, an understanding of the molecular basis of muscle dysfunction in HD should provide insight into mechanisms involved in neuronal abnormalities and neurodegeneration... - Progressive alterations in the hypothalamic-pituitary-adrenal axis in the R6/2 transgenic mouse model of Huntington's diseaseMaria Björkqvist
Neuronal Survival Unit, Department of Experimental Medical Science, Wallenberg Neuroscience Center, BMC A10, Lund, Sweden
Hum Mol Genet 15:1713-21. 2006..This progressive increase in cortisol may contribute to the clinical symptoms, such as muscular wasting, mood changes and some of the cognitive deficits that occur in HD... - Metabolic characterization of the R6/2 transgenic mouse model of Huntington's disease by high-resolution MAS 1H NMR spectroscopyTsz M Tsang
Biological Chemistry, Biomedical Sciences Division, Faculty of Medicine, Imperial College, London, SW7 2AZ, United Kingdom
J Proteome Res 5:483-92. 2006..Clear differentiation of R6/2 and wild-type mice was also obtained for urine and blood metabolite profiles that may have applicability for monitoring HD in human populations... - Predict-HD and the future of therapeutic trialsEdward J Wild
Lancet Neurol 5:724-5. 2006 - Imaging microglial activation in Huntington's diseaseYen F Tai
Division of Neuroscience and Psychological Medicine, Hammersmith Hospital, Imperial College London, UK
Brain Res Bull 72:148-51. 2007..Further longitudinal studies are needed to fully elucidate this link... - Hsp27 overexpression in the R6/2 mouse model of Huntington's disease: chronic neurodegeneration does not induce Hsp27 activationAlexandra Zourlidou
Department of Medical and Molecular Genetics, King s College London, School of Medicine, London SE1 9RT, UK
Hum Mol Genet 16:1078-90. 2007..Our study is the first to suggest a differential modulation of Hsp27 activation in vivo and, importantly, it illustrates the diverse effect of Hsp27 on acute versus chronic models of disease... - A novel pathogenic pathway of immune activation detectable before clinical onset in Huntington's diseaseMaria Björkqvist
Neuronal Survival Unit, Department of Experimental Medical Sciences, Wallenberg Neuroscience Center, Lund University, S 221 00 Lund, Sweden
J Exp Med 205:1869-77. 2008..Collectively, our data suggest parallel central nervous system and peripheral pathogenic pathways of immune activation in HD... - Proteomic profiling of plasma in Huntington's disease reveals neuroinflammatory activation and biomarker candidatesAnnette Dalrymple
Proteome Sciences plc, Cobham, Surrey, United Kingdom
J Proteome Res 6:2833-40. 2007..Proteins of interest were evaluated using immunoblotting and ELISA in plasma from 2 populations, CSF and R6/2 mice. The identified proteins demonstrate neuroinflammation in HD and warrant further investigation as possible biomarkers... - Analysis of potential transcriptomic biomarkers for Huntington's disease in peripheral bloodHeike Runne
Laboratory of Functional Neurogenomics, Brain Mind Institute, Ecole Polytechnique Federale de Lausanne EPFL, CH 1015 Lausanne, Switzerland
Proc Natl Acad Sci U S A 104:14424-9. 2007..2005) Proc Natl Acad Sci USA 102:11023-11028]. The present results may nonetheless inform the future design and testing of HD biomarker strategies... - Increased thirst and drinking in Huntington's disease and the R6/2 mouseNigel I Wood
Department of Pharmacology, University of Cambridge, Tennis Court Road, Cambridge CB2 1PD, United Kingdom
Brain Res Bull 76:70-9. 2008..We suggest that increased thirst may be an important and clinically relevant biomarker for the study of disease progression in HD...