Sarah J Tabrizi

Summary

Affiliation: University College London
Country: UK

Publications

  1. pmc A novel pathogenic pathway of immune activation detectable before clinical onset in Huntington's disease
    Maria 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
  2. pmc Rapid cell-surface prion protein conversion revealed using a novel cell system
    R Goold
    Department of Neurodegenerative Disease, Institute of Neurology, University College London, Queen Square, London WC1N 3BG, UK
    Nat Commun 2:281. 2011
  3. ncbi request reprint 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
    Sarah J Tabrizi
    UCL Institute of Neurology, University College London, London, UK
    Lancet Neurol 12:637-49. 2013
  4. doi request reprint Biomarkers for Huntington's disease
    Edward 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
  5. pmc Expressed Alu repeats as a novel, reliable tool for normalization of real-time quantitative RT-PCR data
    Manuela 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
  6. ncbi request reprint Biological and clinical changes in premanifest and early stage Huntington's disease in the TRACK-HD study: the 12-month longitudinal analysis
    Sarah J Tabrizi
    UCL Institute of Neurology, University College London, Department of Neurodegenerative Disease, Queen Square, London, UK
    Lancet Neurol 10:31-42. 2011
  7. ncbi request reprint Biomarkers for neurodegenerative diseases
    Susie M D Henley
    Dementia Research Centre, Institute of Neurology, University College London, London, UK
    Curr Opin Neurol 18:698-705. 2005
  8. pmc Biological and clinical manifestations of Huntington's disease in the longitudinal TRACK-HD study: cross-sectional analysis of baseline data
    Sarah J Tabrizi
    UCL Institute of Neurology, University College London, Queen Square, London, UK
    Lancet Neurol 8:791-801. 2009
  9. doi request reprint Relationship between CAG repeat length and brain volume in premanifest and early Huntington's disease
    Susie M D Henley
    Dementia Research Centre, Institute of Neurology, University College, London, UK
    J Neurol 256:203-12. 2009
  10. doi request reprint Cortical dopamine dysfunction in symptomatic and premanifest Huntington's disease gene carriers
    Nicola Pavese
    MRC Clinical Sciences Centre and Division of Neuroscience, Faculty of Medicine, Imperial College, Hammersmith Hospital, London, UK
    Neurobiol Dis 37:356-61. 2010

Detail Information

Publications78

  1. pmc A novel pathogenic pathway of immune activation detectable before clinical onset in Huntington's disease
    Maria 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...
  2. pmc Rapid cell-surface prion protein conversion revealed using a novel cell system
    R Goold
    Department of Neurodegenerative Disease, Institute of Neurology, University College London, Queen Square, London WC1N 3BG, UK
    Nat Commun 2:281. 2011
    ..We show that prion infection of cells is extremely rapid occurring within 1 min of prion exposure, and we demonstrate that the plasma membrane is the primary site of prion conversion...
  3. ncbi request reprint 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
    Sarah J Tabrizi
    UCL Institute of Neurology, University College London, London, UK
    Lancet Neurol 12:637-49. 2013
    ..We aimed to describe phenotypic changes in these participants over 36 months and identify baseline predictors of progression...
  4. doi request reprint Biomarkers for Huntington's disease
    Edward 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...
  5. pmc Expressed Alu repeats as a novel, reliable tool for normalization of real-time quantitative RT-PCR data
    Manuela 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...
  6. ncbi request reprint Biological and clinical changes in premanifest and early stage Huntington's disease in the TRACK-HD study: the 12-month longitudinal analysis
    Sarah 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...
  7. ncbi request reprint Biomarkers for neurodegenerative diseases
    Susie 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...
  8. pmc Biological and clinical manifestations of Huntington's disease in the longitudinal TRACK-HD study: cross-sectional analysis of baseline data
    Sarah 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...
  9. doi request reprint Relationship between CAG repeat length and brain volume in premanifest and early Huntington's disease
    Susie 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...
  10. doi request reprint Cortical dopamine dysfunction in symptomatic and premanifest Huntington's disease gene carriers
    Nicola 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...
  11. pmc PINK1-associated Parkinson's disease is caused by neuronal vulnerability to calcium-induced cell death
    Sonia Gandhi
    Department of Molecular Neuroscience, Institute of Neurology, Queen Square, London, UK
    Mol Cell 33:627-38. 2009
    ..Our findings propose a mechanism by which PINK1 dysfunction renders neurons vulnerable to cell death...
  12. doi request reprint Clinical impairment in premanifest and early Huntington's disease is associated with regionally specific atrophy
    Rachael I Scahill
    Department of Neurodegenerative Disease, UCL Institute of Neurology, London, United Kingdom
    Hum Brain Mapp 34:519-29. 2013
    ..Our study reveals specific associations between atrophy and decline in a range of clinical modalities, demonstrating the utility of VBM correlation analysis for investigating these relationships in HD...
  13. doi request reprint The progression of regional atrophy in premanifest and early Huntington's disease: a longitudinal voxel-based morphometry study
    Nicola 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...
  14. ncbi request reprint Rate and acceleration of whole-brain atrophy in premanifest and early Huntington's disease
    Edward 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...
  15. ncbi request reprint Potential endpoints for clinical trials in premanifest and early Huntington's disease in the TRACK-HD study: analysis of 24 month observational data
    Sarah 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...
  16. pmc C9orf72 expansions are the most common genetic cause of Huntington disease phenocopies
    Davina J Hensman Moss
    From the Departments of Neurodegenerative Disease D J H M, P M, E J W, S M, S J T and Molecular Neuroscience H H, UCL Institute of Neurology, London MRC Prion Unit M P, J B, T C, G A, London and Neurogenetics Unit J H, J M P, E M, A H, M G S, H H, National Hospital for Neurology and Neurosurgery, University College London Hospitals, UK
    Neurology 82:292-9. 2014
    ..Our objective was to determine whether this mutation causes HD phenocopies...
  17. doi request reprint Microglial activation in regions related to cognitive function predicts disease onset in Huntington's disease: a multimodal imaging study
    Marios 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...
  18. pmc Abnormal motor cortex plasticity in premanifest and very early manifest Huntington disease
    Michael Orth
    Sobell Department of Motor Neuroscience and Movement Disorders, Institute of Neurology, Queen Square, London, UK
    J Neurol Neurosurg Psychiatry 81:267-70. 2010
    ....
  19. doi request reprint An event-based model for disease progression and its application in familial Alzheimer's disease and Huntington's disease
    Hubert 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...
  20. ncbi request reprint Huntington's disease phenocopies are clinically and genetically heterogeneous
    Edward 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...
  21. doi request reprint Whole-brain atrophy as a measure of progression in premanifest and early Huntington's disease
    Susie 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...
  22. pmc Altered brain mechanisms of emotion processing in pre-manifest Huntington's disease
    Marianne 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...
  23. doi request reprint 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
    Anna 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...
  24. doi request reprint Defective emotion recognition in early HD is neuropsychologically and anatomically generic
    Susie 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...
  25. ncbi request reprint Automated quantification of caudate atrophy by local registration of serial MRI: evaluation and application in Huntington's disease
    Nicola 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)...
  26. ncbi request reprint Quality of life in Huntington's disease: a comparative study investigating the impact for those with pre-manifest and early manifest disease, and their partners
    Joy Read
    UCL Institute of Neurology, University College London, Queen Square, London, UK
    J Huntingtons Dis 2:159-75. 2013
    ....
  27. ncbi request reprint The Potential of Composite Cognitive Scores for Tracking Progression in Huntington's Disease
    Rebecca Jones
    Department of Medical Statistics, London School of Hygiene and Tropical Medicine, London, UK
    J Huntingtons Dis 3:197-207. 2014
    ..Composite scores derived from joint statistical modelling of individual risk factors are widely used to identify individuals who are at increased risk of developing disease or of faster disease progression...
  28. doi request reprint Selective executive dysfunction but intact risky decision-making in early Huntington's disease
    Anna K Holl
    Sobell Department of Motor Neuroscience and Movement Disorders, University College London, Institute of Neurology, London, United Kingdom
    Mov Disord 28:1104-9. 2013
    ..The current results demonstrate that the deterioration of executive functioning in HD is variable and that some types of executive processing might already be impaired in early HD, whereas others remain intact...
  29. ncbi request reprint Disease-associated prion protein oligomers inhibit the 26S proteasome
    Mark Kristiansen
    MRC Prion Unit, Institute of Neurology, University College London, Queen Square, London, UK
    Mol Cell 26:175-88. 2007
    ..Together, these data suggest a mechanism for intracellular neurotoxicity mediated by oligomers of misfolded prion protein...
  30. ncbi request reprint Plasma neurofilament heavy chain levels in Huntington's disease
    Edward 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...
  31. pmc Large C9orf72 hexanucleotide repeat expansions are seen in multiple neurodegenerative syndromes and are more frequent than expected in the UK population
    Jon 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...
  32. pmc Abnormal explicit but normal implicit sequence learning in premanifest and early Huntington's disease
    Susanne 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...
  33. ncbi request reprint The structural involvement of the cingulate cortex in premanifest and early Huntington's disease
    Nicola 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...
  34. ncbi request reprint Corpus callosal atrophy in premanifest and early Huntington's disease
    Helen E Crawford
    UCL Institute of Neurology, University College London, UK
    J Huntingtons Dis 2:517-26. 2013
    ..The current study focussed on the corpus callosum (CC) since it provides interhemispheric connections to vulnerable cortical areas...
  35. pmc Genetic risk factors for variant Creutzfeldt-Jakob disease: a genome-wide association study
    Simon Mead
    Medical Research Council Prion Unit and Department of Neurodegenerative Disease, Institute of Neurology, Queen Square, London, UK
    Lancet Neurol 8:57-66. 2009
    ....
  36. doi request reprint Hsa-miR-34b is a plasma-stable microRNA that is elevated in pre-manifest Huntington's disease
    Philip Michael Gaughwin
    Department of Experimental Medical Sciences, Wallenberg Neuroscience Center, Lund University, S 221 84 Lund, Sweden
    Hum Mol Genet 20:2225-37. 2011
    ..Interestingly, miR-34b is significantly elevated in plasma from HD gene carriers prior to symptom onset. This is the first study suggesting that plasma miRs might be used as biomarkers for HD...
  37. ncbi request reprint Progressive alterations in the hypothalamic-pituitary-adrenal axis in the R6/2 transgenic mouse model of Huntington's disease
    Maria 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...
  38. pmc Misfolded PrP and a novel mechanism of proteasome inhibition
    Ralph 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...
  39. ncbi request reprint Oculomotor deficits indicate the progression of Huntington's disease
    Stephen 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...
  40. doi request reprint Huntington's disease: clinical presentation and treatment
    Marianne 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...
  41. pmc Misfolded PrP impairs the UPS by interaction with the 20S proteasome and inhibition of substrate entry
    Pelagia 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...
  42. pmc HTT-lowering reverses Huntington's disease immune dysfunction caused by NFκB pathway dysregulation
    Ulrike Träger
    1 UCL Institute of Neurology, Department of Neurodegenerative Disease, London, UK
    Brain 137:819-33. 2014
    ....
  43. ncbi request reprint Harnessing immune alterations in neurodegenerative diseases
    Maria Björkqvist
    Neuronal Survival Unit, Department of Experimental Medical Sciences, Wallenberg Neuroscience Center, Lund University, S 221 84 Lund, Sweden
    Neuron 64:21-4. 2009
    ..Inflammation could be modified, with disease-slowing effects, by targeted interventions; it is also readily detectable and could serve as a source of valuable biomarkers...
  44. ncbi request reprint Huntington's disease phenocopy syndromes
    Edward 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...
  45. pmc Abnormal motor cortex excitability in preclinical and very early Huntington's disease
    Sven 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...
  46. doi request reprint Emotion recognition in Huntington's disease: a systematic review
    Susie 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...
  47. doi request reprint Visuomotor integration deficits precede clinical onset in Huntington's disease
    Miranda 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...
  48. ncbi request reprint Mouse models as a tool for understanding neurodegenerative diseases
    Azlina Ahmad-Annuar
    Institute of Neurology, National Hospital of Neurology and Neurosurgery, London, UK
    Curr Opin Neurol 16:451-8. 2003
    ..We briefly touch on the technologies used to make these models, and then focus on recent results from new models. We discuss why such models are useful when they do - and do not - mimic the human disorder...
  49. doi request reprint Hypothalamic involvement in Huntington's disease: an in vivo PET study
    Marios 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
    ....
  50. doi request reprint Prions and the proteasome
    Pelagia 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...
  51. ncbi request reprint Increased levels of hemoglobin and alpha1-microglobulin in Huntington's disease
    Magnus G Olsson
    Division of Infection Medicine, Department of Clinical Sciences, Lund University, 221 84 Lund, Sweden
    Front Biosci (Elite Ed) 4:950-7. 2012
    ..The results suggest that hemolysis may be linked to the pathogenesis of Huntington's disease and that assay of hemoglobin and alpha1-microglobulin may provide biomarkers that are linked to biologically relevant processes...
  52. pmc 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
    Hans 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...
  53. doi request reprint An ITPR1 gene deletion causes spinocerebellar ataxia 15/16: a genetic, clinical and radiological description
    Marianne 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...
  54. ncbi request reprint Spinocerebellar ataxia type 17: extension of phenotype with putaminal rim hyperintensity on magnetic resonance imaging
    Clement 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...
  55. pmc Alternative fates of newly formed PrPSc upon prion conversion on the plasma membrane
    Rob Goold
    Department of Neurodegenerative Disease, UCL Institute of Neurology, University College London, Queen Square, London WC1N 3BG, UK
    J Cell Sci 126:3552-62. 2013
    ..This pathway leads to lysosomal degradation, and we show that this is the dominant PrP(Sc) degradative mechanism in the early stages of prion infection. ..
  56. doi request reprint White matter integrity in premanifest and early Huntington's disease is related to caudate loss and disease progression
    Marianne J U Novak
    National Hospital for Neurology and Neurosurgery, London, UK Wellcome Trust Centre for Neuroimaging, UCL Institute of Neurology, London, UK
    Cortex 52:98-112. 2014
    ..Our aim was to systematically assess interactions between these changes and genetic markers of disease progression; we are not aware of previous studies in which this has been explicitly tested...
  57. doi request reprint Peripheral inflammation in neurodegeneration
    Ulrike Träger
    Department of Neurodegenerative Disease, UCL Institute of Neurology, Queen Square, London, WC1N 3BG, UK
    J Mol Med (Berl) 91:673-81. 2013
    ..In addition, the easy accessibility of blood immune cells and markers makes them ideal candidates for use as possible biomarkers and a potential model of central immune cells...
  58. ncbi request reprint White matter connections reflect changes in voluntary-guided saccades in pre-symptomatic Huntington's disease
    Stefan 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...
  59. ncbi request reprint Biomarker development for Huntington's disease
    Ralph Andre
    UCL Institute of Neurology, Department of Neurodegenerative Disease, Queen Square, London WC1N 3BG, UK
    Drug Discov Today 19:972-9. 2014
    ..Functional, neuroimaging and biochemical biomarkers continue to be investigated for use in the development of disease-modifying treatments of HD. ..
  60. pmc PINK1 is necessary for long term survival and mitochondrial function in human dopaminergic neurons
    Alison Wood-Kaczmar
    Department of Molecular Neuroscience, Institute of Neurology, London, United Kingdom
    PLoS ONE 3:e2455. 2008
    ..The phenotypic effects of PINK1 loss-of-function described here in mammalian neurons provides mechanistic insight into the age-related degeneration of nigral dopaminergic neurons seen in PD...
  61. pmc Abnormal peripheral chemokine profile in Huntington's disease
    Edward 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...
  62. ncbi request reprint Somatic and germline mosaicism in sporadic early-onset Alzheimer's disease
    Jonathan A Beck
    MRC Prion Unit and Department of Neurodegenerative Disease, Institute of Neurology UCL, Queen Square, London, UK
    Hum Mol Genet 13:1219-24. 2004
    ..This finding has important implications for the aetiology of sporadic AD, and for other apparently sporadic neurodegenerative diseases such as Parkinson's disease, motor neuron disease and Creutzfeldt-Jakob disease...
  63. ncbi request reprint Disease-related prion protein forms aggresomes in neuronal cells leading to caspase activation and apoptosis
    Mark Kristiansen
    Medical Research Council Prion Unit and Department of Neurodegenerative Disease, Institute of Neurology, University College London, Queen Square, London WC1N 3BG, United Kingdom
    J Biol Chem 280:38851-61. 2005
    ..This, in turn, triggers caspase-dependent apoptosis and further implicates proteasome dysfunction in the pathogenesis of prion diseases...
  64. pmc Prevalence of adult Huntington's disease in the UK based on diagnoses recorded in general practice records
    Stephen J W Evans
    Department of Epidemiology, London School of Hygiene and Tropical Medicine, University of London, London, UK
    J Neurol Neurosurg Psychiatry 84:1156-60. 2013
    ..Recently, it has been suggested that the prevalence may be substantially greater than previously reported. This study was undertaken to estimate the overall UK prevalence in adults diagnosed with HD, using data from primary care...
  65. pmc Stability of white matter changes related to Huntington's disease in the presence of imaging noise: a DTI study
    Hans 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...
  66. ncbi request reprint Prion diseases
    Edward McKintosh
    Department of Neurodegenerative Disease MRC Prion Unit, Institute of Neurology, University College London, London, United Kingdom
    J Neurovirol 9:183-93. 2003
    ..This article reviews the history and epidemiology of these diseases, and then focuses on important areas of current research in human prion disorders...
  67. ncbi request reprint Models of Parkinson's disease
    Michael 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...
  68. ncbi request reprint Mouse models for neurological disease
    Majid Hafezparast
    Department of Neurodegenerative Disease, National Hospital for Neurology and Neurosurgery, London, UK
    Lancet Neurol 1:215-24. 2002
    ..Molecular genetics has had a major influence on our understanding of the causes of neurological disorders in human beings, and much of this has come from work in mice...
  69. doi request reprint Biomarkers for Huntington's disease: an update
    Rachael 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...
  70. ncbi request reprint Microglial activation in presymptomatic Huntington's disease gene carriers
    Yen 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...
  71. ncbi request reprint Gene expression in Huntington's disease skeletal muscle: a potential biomarker
    Andrew 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...
  72. ncbi request reprint Proteomic profiling of plasma in Huntington's disease reveals neuroinflammatory activation and biomarker candidates
    Annette 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...
  73. pmc Analysis of potential transcriptomic biomarkers for Huntington's disease in peripheral blood
    Heike 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...
  74. ncbi request reprint Metabolic characterization of the R6/2 transgenic mouse model of Huntington's disease by high-resolution MAS 1H NMR spectroscopy
    Tsz 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...
  75. doi request reprint Increased thirst and drinking in Huntington's disease and the R6/2 mouse
    Nigel 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...
  76. ncbi request reprint Hsp27 overexpression in the R6/2 mouse model of Huntington's disease: chronic neurodegeneration does not induce Hsp27 activation
    Alexandra 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...
  77. ncbi request reprint Imaging microglial activation in Huntington's disease
    Yen 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...
  78. ncbi request reprint Predict-HD and the future of therapeutic trials
    Edward J Wild
    Lancet Neurol 5:724-5. 2006