John Hardy

Summary

Affiliation: University College London
Country: UK

Publications

  1. pmc Further analysis of previously implicated linkage regions for Alzheimer's disease in affected relative pairs
    Elin S Blom
    Section of Molecular Geriatrics, Department of Public Health and Caring Sciences, Uppsala University, Uppsala, Sweden
    BMC Med Genet 10:122. 2009
  2. ncbi request reprint Protected to death
    John Hardy
    Reta Lila Weston Laboratories, Department of Molecular Neuroscience, UCL Institute of Neurology, London, UK
    J Alzheimers Dis 20:409-13. 2010
  3. pmc Genetic analysis of pathways to Parkinson disease
    John Hardy
    Department of Molecular Neuroscience, UCL Institute of Neurology, London, UK
    Neuron 68:201-6. 2010
  4. ncbi request reprint The genetics of Parkinson's syndromes: a critical review
    John Hardy
    Reta Lila Weston Institute and Department of Molecular Neuroscience, UCL Institute of Neurology, Queen Square, London WC1N 3BG, England, UK
    Curr Opin Genet Dev 19:254-65. 2009
  5. ncbi request reprint The HapMap: charting a course for genetic discovery in neurological diseases
    John Hardy
    Department of Molecular Neuroscience and Reta Lila Weston Laboratories, Institute of Neurology, University College London, Queen Square, London WC1 3BG, England
    Arch Neurol 65:319-21. 2008
  6. ncbi request reprint The amyloid hypothesis for Alzheimer's disease: a critical reappraisal
    John Hardy
    Reta Lilla Weston Institute and Department of Molecular Neuroscience, UCL Institute of Neurology, Queen Square, London, UK
    J Neurochem 110:1129-34. 2009
  7. pmc TDP-43 pathology in a patient carrying G2019S LRRK2 mutation and a novel p.Q124E MAPT
    Helen Ling
    Reta Lila Weston Institute of Neurological Studies and Queen Square Brain Bank for Neurological Disorders, Department of Molecular Neuroscience, Institute of Neurology, University College London, London, UK
    Neurobiol Aging 34:2889.e5-9. 2013
  8. pmc The glucocerobrosidase E326K variant predisposes to Parkinson's disease, but does not cause Gaucher's disease
    Raquel Duran
    Reta Lila Weston Laboratories and Department of Molecular Neuroscience, UCL Institute of Neurology, London, UK
    Mov Disord 28:232-6. 2013
  9. pmc MAPT expression and splicing is differentially regulated by brain region: relation to genotype and implication for tauopathies
    Daniah Trabzuni
    Reta Lila Weston Institute and Department of Molecular Neuroscience, UCL Institute of Neurology, Queen Square, London WC1N 3BG, UK
    Hum Mol Genet 21:4094-103. 2012
  10. 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

Detail Information

Publications134 found, 100 shown here

  1. pmc Further analysis of previously implicated linkage regions for Alzheimer's disease in affected relative pairs
    Elin S Blom
    Section of Molecular Geriatrics, Department of Public Health and Caring Sciences, Uppsala University, Uppsala, Sweden
    BMC Med Genet 10:122. 2009
    ..Genome-wide linkage studies for Alzheimer's disease have implicated several chromosomal regions as potential loci for susceptibility genes...
  2. ncbi request reprint Protected to death
    John Hardy
    Reta Lila Weston Laboratories, Department of Molecular Neuroscience, UCL Institute of Neurology, London, UK
    J Alzheimers Dis 20:409-13. 2010
    ....
  3. pmc Genetic analysis of pathways to Parkinson disease
    John Hardy
    Department of Molecular Neuroscience, UCL Institute of Neurology, London, UK
    Neuron 68:201-6. 2010
    ....
  4. ncbi request reprint The genetics of Parkinson's syndromes: a critical review
    John Hardy
    Reta Lila Weston Institute and Department of Molecular Neuroscience, UCL Institute of Neurology, Queen Square, London WC1N 3BG, England, UK
    Curr Opin Genet Dev 19:254-65. 2009
    ....
  5. ncbi request reprint The HapMap: charting a course for genetic discovery in neurological diseases
    John Hardy
    Department of Molecular Neuroscience and Reta Lila Weston Laboratories, Institute of Neurology, University College London, Queen Square, London WC1 3BG, England
    Arch Neurol 65:319-21. 2008
    ..As the first reports of its application to neurological disease are described, we review this progress, explain the principles of the analysis, and discuss what the future is likely to be in this exciting area...
  6. ncbi request reprint The amyloid hypothesis for Alzheimer's disease: a critical reappraisal
    John Hardy
    Reta Lilla Weston Institute and Department of Molecular Neuroscience, UCL Institute of Neurology, Queen Square, London, UK
    J Neurochem 110:1129-34. 2009
    ....
  7. pmc TDP-43 pathology in a patient carrying G2019S LRRK2 mutation and a novel p.Q124E MAPT
    Helen Ling
    Reta Lila Weston Institute of Neurological Studies and Queen Square Brain Bank for Neurological Disorders, Department of Molecular Neuroscience, Institute of Neurology, University College London, London, UK
    Neurobiol Aging 34:2889.e5-9. 2013
    ..The role of the MAPT variant in the clinical and pathological manifestation in LRRK2 cases remains to be determined. ..
  8. pmc The glucocerobrosidase E326K variant predisposes to Parkinson's disease, but does not cause Gaucher's disease
    Raquel Duran
    Reta Lila Weston Laboratories and Department of Molecular Neuroscience, UCL Institute of Neurology, London, UK
    Mov Disord 28:232-6. 2013
    ..Our aim was to assess the contribution of GBA1 mutations in a series of early-onset PD...
  9. pmc MAPT expression and splicing is differentially regulated by brain region: relation to genotype and implication for tauopathies
    Daniah Trabzuni
    Reta Lila Weston Institute and Department of Molecular Neuroscience, UCL Institute of Neurology, Queen Square, London WC1N 3BG, UK
    Hum Mol Genet 21:4094-103. 2012
    ....
  10. 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...
  11. pmc Widespread Lewy body and tau accumulation in childhood and adult onset dystonia-parkinsonism cases with PLA2G6 mutations
    Coro Paisan-Ruiz
    Department of Molecular Neuroscience, UCL Institute of Neurology, London, UK
    Neurobiol Aging 33:814-23. 2012
    ..Later onset cases tended to have less tau involvement but still severe alpha-synuclein pathology. The clinical and neuropathological features clearly represent a link between PLA2G6 and parkinsonian disorders...
  12. pmc Genotype and phenotype in Parkinson's disease: lessons in heterogeneity from deep brain stimulation
    Aikaterina Angeli
    Sobell Department of Motor Neuroscience, University College London UCL Institute of Neurology, Queen Square, London, United Kingdom
    Mov Disord 28:1370-5. 2013
    ..DBS cohorts include large numbers of gene positive PD patients and can be clinically instructive in the exploration of genotype-phenotype relationships. ..
  13. doi request reprint Validation of next-generation sequencing technologies in genetic diagnosis of dementia
    John Beck
    MRC Prion Unit, Department of Neurodegenerative Disease, UCL Institute of Neurology, Queen Square, London, UK
    Neurobiol Aging 35:261-5. 2014
    ..The MRC Dementia Gene Panel and similar technologies are likely to be transformational in EOD diagnosis with a significant impact on the proportion of patients in whom a genetic cause is identified. ..
  14. pmc Widespread sex differences in gene expression and splicing in the adult human brain
    Daniah Trabzuni
    1 Reta Lilla Weston Laboratories, Department of Molecular Neuroscience, UCL Institute of Neurology, Queen Square, London WC1N 3BG, UK 2 Department of Genetics, King Faisal Specialist Hospital and Research Centre, PO Box 3354, Riyadh 11211, Saudi Arabia 3
    Nat Commun 4:2771. 2013
    ..We give examples of genes where sex-biased expression is both disease-relevant and likely to have functional consequences, and provide evidence suggesting that sex biases in expression may reflect sex-biased gene regulatory structures. ..
  15. pmc Fine-mapping, gene expression and splicing analysis of the disease associated LRRK2 locus
    Daniah Trabzuni
    Department of Molecular Neuroscience, UCL Institute of Neurology, Queen Square, London, United Kingdom
    PLoS ONE 8:e70724. 2013
    ..Our results characterize the LRRK2 locus, and highlight the importance and difficulties of fine-mapping and integration of multiple datasets to delineate pathogenic variants and thus develop an understanding of disease mechanisms. ..
  16. pmc Pathogenic Parkinson's disease mutations across the functional domains of LRRK2 alter the autophagic/lysosomal response to starvation
    Claudia Manzoni
    Department of Molecular Neuroscience, UCL Institute of Neurology, Queen Square, London WC1N 3BG, UK Electronic address
    Biochem Biophys Res Commun 441:862-6. 2013
    ..These data highlight the autophagy and lysosomal pathways as read outs for pathogenic LRRK2 function and as a marker for disease, and provide insight into the mechanisms linking LRRK2 function and mutations. ..
  17. pmc Mutations in the autoregulatory domain of β-tubulin 4a cause hereditary dystonia
    Joshua Hersheson
    Department of Molecular Neuroscience, University College London Institute of Neurology and National Hospital for Neurology and Neurosurgery, London, United Kingdom
    Ann Neurol 73:546-53. 2013
    ....
  18. pmc Inhibition of GSK-3 ameliorates Abeta pathology in an adult-onset Drosophila model of Alzheimer's disease
    Oyinkan Sofola
    Department of Genetics, Evolution, and Environment, Institute of Healthy Ageing and Research, University College London, London, United Kingdom
    PLoS Genet 6:e1001087. 2010
    ....
  19. pmc THAP1 mutations and dystonia phenotypes: genotype phenotype correlations
    Georgia Xiromerisiou
    Department of Molecular Neuroscience and Reta Lila Weston Institute, University College London Institute of Neurology, London, London, United Kingdom Department of Neurology, Faculty of Medicine University of Thessaly, Larissa, Greece
    Mov Disord 27:1290-4. 2012
    ..Greater mutation numbers in different populations will be important and mutation-specific functional studies will be essential to identify the pathogenicity of the various THAP1 mutations. © 2012 Movement Disorder Society...
  20. ncbi request reprint ATP13A2 mutations (PARK9) cause neurodegeneration with brain iron accumulation
    Susanne A Schneider
    Sobell Department of Motor Neuroscience and Movement Disorders, UCL Institute of Neurology, Queen Square, London, United Kingdom
    Mov Disord 25:979-84. 2010
    ..KRD should be considered in patients with dystonia-parkinsonism with iron on brain imaging and we suggest classifying as NBIA type 3...
  21. pmc Kohlschütter-Tönz syndrome: mutations in ROGDI and evidence of genetic heterogeneity
    Arianna Tucci
    Department of Molecular Neuroscience, Reta Lila Weston Research Laboratories and MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology, London, UK
    Hum Mutat 34:296-300. 2013
    ..The other families, mostly presenting with additional atypical features, were negative for ROGDI mutations, suggesting genetic heterogeneity of atypical forms of the disease...
  22. pmc Initial assessment of the pathogenic mechanisms of the recently identified Alzheimer risk Loci
    Patrick Holton
    Department of Molecular Neuroscience, UCL Institute of Neurology, London, UK
    Ann Hum Genet 77:85-105. 2013
    ..Although these results are mainly negative, they allow us to start defining more realistic alternative approaches to determine the role of all the genetic loci involved in Alzheimer's disease...
  23. pmc Frontotemporal dementia with the C9ORF72 hexanucleotide repeat expansion: clinical, neuroanatomical and neuropathological features
    Colin J Mahoney
    Dementia Research Centre, Department of Neurodegenerative Diseases, UCL Institute of Neurology, London WC1N 3BG, UK
    Brain 135:736-50. 2012
    ....
  24. pmc The Parkinson's disease-linked proteins Fbxo7 and Parkin interact to mediate mitophagy
    Victoria S Burchell
    Department of Molecular Neuroscience, University College London Institute of Neurology, London, UK
    Nat Neurosci 16:1257-65. 2013
    ..Parkinson's disease-causing mutations in Fbxo7 interfered with this process, emphasizing the importance of mitochondrial dysfunction in Parkinson's disease pathogenesis. ..
  25. pmc Creation of an open-access, mutation-defined fibroblast resource for neurological disease research
    Selina Wray
    Department of Molecular Neuroscience, University College London Institute of Neurology, London, United Kingdom
    PLoS ONE 7:e43099. 2012
    ..This represents a significant resource that will advance the use of patient cells as disease models by the scientific community...
  26. ncbi request reprint Glucocerebrosidase mutations do not cause increased Lewy body pathology in Parkinson's disease
    Laura Parkkinen
    Queen Square Brain Bank for Neurological Disorders, Institute of Neurology, University College London, UK
    Mol Genet Metab 103:410-2. 2011
    ..Our results do not support GBA carriers to have a more advanced neuropathologic disease i.e. increased density of protein aggregates...
  27. pmc Assessment of common variability and expression quantitative trait loci for genome-wide associations for progressive supranuclear palsy
    Raffaele Ferrari
    Laboratory of Neurogenetics, Department of Internal Medicine, Texas Tech University Health Sciences Center, Lubbock, TX, USA Reta Lila Weston Institute, UCL Institute of Neurology, London, UK Department of Molecular Neuroscience, UCL Institute of Neurology, London, UK
    Neurobiol Aging 35:1514.e1-12. 2014
    ....
  28. ncbi request reprint Genetic influences on atrophy patterns in familial Alzheimer's disease: a comparison of APP and PSEN1 mutations
    Rachael I Scahill
    Dementia Research Centre, Department of Neurodegeneration, UCL Institute of Neurology, London, UK
    J Alzheimers Dis 35:199-212. 2013
    ..We conclude that the mechanisms by which APP and PSEN1 mutations cause neuronal loss may differ which furthers our understanding of the neuropathology underlying AD and may inform future therapeutic strategies and trial designs...
  29. pmc Parkin disease: a clinicopathologic entity?
    Karen M Doherty
    Reta Lila Weston Institute for Neurological Studies, University College London, London, England
    JAMA Neurol 70:571-9. 2013
    ..The few available detailed neuropathologic reports suggest that homozygous and compound heterozygous parkin mutations are characterized by severe substantia nigra pars compacta neuronal loss...
  30. pmc The MAPT p.A152T variant is a risk factor associated with tauopathies with atypical clinical and neuropathological features
    Eleanna Kara
    Reta Lila Weston Laboratories and Department of Molecular Neuroscience, UCL Institute of Neurology, Queen Square, London, UK
    Neurobiol Aging 33:2231.e7-2231.e14. 2012
    ..We suggest that the A152T variant is a risk factor associated with the development of atypical neurodegenerative conditions with abnormal tau accumulation...
  31. doi request reprint Parkinson's disease and α-synuclein expression
    Michael J Devine
    Department of Molecular Neuroscience, UCL Institute of Neurology, Queen Square, London, UK
    Mov Disord 26:2160-8. 2011
    ..Finally, we discuss potential strategies for disease-modifying therapies for this currently incurable disorder...
  32. pmc Novel C12orf65 mutations in patients with axonal neuropathy and optic atrophy
    Arianna Tucci
    Department of Molecular Neuroscience and Reta Lila Weston Research Laboratories, UCL Institute of Neurology and the National Hospital for Neurology and Neurosurgery, London, UK
    J Neurol Neurosurg Psychiatry 85:486-92. 2014
    ..Mutations in Mitofusin 2 have been found to cause dominant forms of CMT6. Phosphoribosylpyrophosphate synthetase-I mutations cause X-linked CMT6, but until now, mutations in the recessive forms of disease have never been identified...
  33. pmc Molecular nexopathies: a new paradigm of neurodegenerative disease
    Jason D Warren
    Dementia Research Centre, Department of Neurodegenerative Disease, UCL Institute of Neurology, University College London, London, UK Electronic address
    Trends Neurosci 36:561-9. 2013
    ..g., toxic-gain-of-function versus loss-of-function) on gradients of network damage. The paradigm has implications for understanding and predicting neurodegenerative disease biology. ..
  34. pmc Pantothenate kinase-associated neurodegeneration is not a synucleinopathy
    Abi Li
    Department of Molecular Neuroscience, UCL Institute of Neurology, London, UK Queen Square Brain Bank, UCL Institute of Neurology, London, UK Department of Pediatrics, University of Maryland, Baltimore, MD, USA Rita Lila Weston Institute of Neurological Studies, London, UK
    Neuropathol Appl Neurobiol . 2012
    ..2012 The Authors. Neuropathology and Applied Neurobiology © 2012 British Neuropathological Society...
  35. pmc α-Synuclein mutations cluster around a putative protein loop
    Eleanna Kara
    Reta Lila Weston Research Laboratories, Department of Molecular Neuroscience, UCL Institute of Neurology, London WC1N 3BG, UK
    Neurosci Lett 546:67-70. 2013
    ..We discuss this localisation in terms of the proposed mechanisms for mutation pathogenicity...
  36. pmc Pathogenic VCP mutations induce mitochondrial uncoupling and reduced ATP levels
    Fernando Bartolomé
    Department of Molecular Neuroscience, UCL Institute of Neurology, Queen Square, London WC1N 3BG, UK
    Neuron 78:57-64. 2013
    ..Our findings propose a mechanism by which pathogenic VCP mutations lead to cell death...
  37. pmc Genetic analysis of inherited leukodystrophies: genotype-phenotype correlations in the CSF1R gene
    Rita Guerreiro
    Reta Lilla Weston Laboratories, Department of Molecular Neuroscience, Institute of Neurology, University College London, London, England
    JAMA Neurol 70:875-82. 2013
    ..The detection of mutations in this gene in cases diagnosed with different clinical entities further demonstrated the difficulties in the clinical diagnosis of HDLS...
  38. pmc α-Synucleinopathy associated with G51D SNCA mutation: a link between Parkinson's disease and multiple system atrophy?
    Aoife P Kiely
    Queen Square Brain Bank, UCL Institute of Neurology, London, UK
    Acta Neuropathol 125:753-69. 2013
    ..Greater understanding of the disease mechanism underlying the G51D mutation could aid in understanding of α-synuclein biology and its impact on disease phenotype...
  39. pmc Study of the genetic variability in a Parkinson's Disease gene: EIF4G1
    Arianna Tucci
    Department of Molecular Neuroscience and Reta Lila Weston Laboratories, Institute of Neurology, Queen Square House, Queen Square, London WC1N 3BG, United Kingdom
    Neurosci Lett 518:19-22. 2012
    ..Our data also suggests that the protein can tolerate some extent of variability particularly at this point of the gene...
  40. pmc Myoclonus-dystonia syndrome due to tyrosine hydroxylase deficiency
    Maria Stamelou
    Sobell Department of Motor Neuroscience and Movement Disorders, UCL Institute of Neurology, London, UK
    Neurology 79:435-41. 2012
    ....
  41. ncbi request reprint Parkinson's disease
    Andrew J Lees
    Department of Molecular Neuroscience and Reta Lila Weston Institute of Neurological Studies, Institute of Neurology, University College London and the National Hospital for Neurology and Neurosurgery, London, UK
    Lancet 373:2055-66. 2009
    ..Embryonic stem cells and gene therapy are promising research therapeutic approaches...
  42. pmc Parkinson's disease in GTP cyclohydrolase 1 mutation carriers
    Niccolò E Mencacci
    1 Department of Molecular Neuroscience, UCL Institute of Neurology, London WC1N 3BG, UK2 IRCCS Istituto Auxologico Italiano, Department of Neurology and Laboratory of Neuroscience Department of Pathophysiology and Transplantation, Dino Ferrari Centre, Universita degli Studi di Milano, 20149 Milan, Italy
    Brain 137:2480-92. 2014
    ..Further insight into GCH1-associated pathogenetic mechanisms will shed light on the role of dopamine metabolism in nigral degeneration and Parkinson's disease. ..
  43. ncbi request reprint Insights from cerebellar transcriptomic analysis into the pathogenesis of ataxia
    Conceição Bettencourt
    Department of Molecular Neuroscience, UCL Institute of Neurology, London, England
    JAMA Neurol 71:831-9. 2014
    ..The examination of overlapping mechanisms and the interpretation of how ataxia genes interact will be important in the discovery of potential disease-modifying agents...
  44. pmc Frontotemporal dementia and its subtypes: a genome-wide association study
    Raffaele Ferrari
    Laboratory of Neurogenetics, Department of Internal Medicine, Texas Tech University Health Science Center, Lubbock, Texas, USA Reta Lila Weston Research Laboratories, Department of Molecular Neuroscience, UCL Institute of Neurology, London, UK
    Lancet Neurol 13:686-99. 2014
    ..Mutations in three genes-MAPT, GRN, and C9orf72--have been associated with FTD. We sought to identify novel genetic risk loci associated with the disorder...
  45. pmc Homozygosity analysis in amyotrophic lateral sclerosis
    Kin Mok
    Reta Lila Weston Research Laboratories, Department of Molecular Neuroscience, and Department of Clinical Neuroscience, UCL Institute of Neurology, Queen Square, London, UK
    Eur J Hum Genet 21:1429-35. 2013
    ..There are more than twenty potential genes in these regions. These findings point to further possible rare recessive genetic causes of ALS, which are not identified as common variants in GWAS. ..
  46. pmc A novel A781V mutation in the CSF1R gene causes hereditary diffuse leucoencephalopathy with axonal spheroids
    Rebekah Ahmed
    Dementia Research Centre, Department of Neurodegenerative Disease, University College London, Institute of Neurology, Queen Square, London, UK
    J Neurol Sci 332:141-4. 2013
    ..2342C>T (p.A781V) in the CSF1R gene in two brothers of the family. This report highlights the difficulties in diagnosing HDLS and discusses the indications for testing for mutations in the CSF1R gene. ..
  47. doi request reprint Blockage of CR1 prevents activation of rodent microglia
    Helen Crehan
    Department of Neuroinflammation, University College London, Institute of Neurology, 1 Wakefield Street, London WC1 N1PJ, UK
    Neurobiol Dis 54:139-49. 2013
    ..Together, these results indicate that microglial CR1 plays a role in the neuronal death observed in AD and investigating this further may provide a possible strategy to control neurotoxicity in the AD brain...
  48. doi request reprint RANTing about C9orf72
    Tammaryn Lashley
    Reta Lila Weston Laboratories and Department of Molecular Neuroscience, University College London Institute of Neurology, London WC1N 3BG, UK
    Neuron 77:597-8. 2013
    ..In this issue of Neuron, Ash et al. (2013) show that despite being noncoding the repeats are translated, leading to widespread neuronal aggregates of the translated proteins...
  49. pmc Tau acts as an independent genetic risk factor in pathologically proven PD
    Gavin Charlesworth
    Department of Molecular Neuroscience, UCL Institute of Neurology, Queen Square, London, UK
    Neurobiol Aging 33:838.e7-11. 2012
    ..Using only neuropathologically proven PD, we show that the MAPT association remains and is independent of the PSP Association...
  50. pmc Disintegrating brain networks: from syndromes to molecular nexopathies
    Jason D Warren
    Dementia Research Centre, Department of Neurodegenerative Disease, University College London Institute of Neurology, London WC1N 3BG, UK
    Neuron 73:1060-2. 2012
    ..2012) use graph theory to suggest that neurodegenerative diseases spread diffusively via intrinsic brain networks. These studies provide a powerful model for understanding and predicting disease-specific profiles of neurodegeneration...
  51. ncbi request reprint Whole genome expression as a quantitative trait
    John Hardy
    Reta Lila Weston Laboratories, UCL Institute of Neurology, Queen Square, London WC1H 3BG, UK
    Biochem Soc Trans 37:1276-7. 2009
    ..With this background, we have embarked on a comprehensive project to determine the effects of common genetic variability on whole genome gene expression...
  52. pmc Genetic variability at the PARK16 locus
    Arianna Tucci
    Department of Molecular Neuroscience and Reta Lila Weston Institute, UCL Institute of Neurology, London, UK
    Eur J Hum Genet 18:1356-9. 2010
    ....
  53. ncbi request reprint Early-onset L-dopa-responsive parkinsonism with pyramidal signs due to ATP13A2, PLA2G6, FBXO7 and spatacsin mutations
    Coro Paisan-Ruiz
    Department of Molecular Neuroscience, UCL Institute of Neurology, London, United Kingdom
    Mov Disord 25:1791-800. 2010
    ..These data suggest that these four genes account for many cases of Levodopa responsive parkinsonism with pyramidal signs cases formerly categorized clinically as pallido-pyramidal syndrome...
  54. ncbi request reprint Complicated recessive dystonia parkinsonism syndromes
    Susanne A Schneider
    Sobell Department of Motor Neuroscience and Movement Disorders, Institute of Neurology, University College London, Queen Square, London WC1N 3BG, United Kingdom
    Mov Disord 24:490-9. 2009
    ..We concentrate on PANK2-, PLA2G6-, ATP13A2-, FBX07, TAF1-, and PRKRA-associated neurodegeneration. Parkin, PINK1, and DJ-1 are also briefly reviewed...
  55. pmc Parkinson's disease--the debate on the clinical phenomenology, aetiology, pathology and pathogenesis
    Peter Jenner
    Neurodegenerative Diseases Research Group, Institute of Pharmaceutical Sciences, School of Biomedical Sciences, King s College, London, UK
    J Parkinsons Dis 3:1-11. 2013
    ..These are likely to include--Parkinson's syndrome, Parkinson's syndrome likely to be Lewy body PD, clinical PD (defined by QSBB criteria), Lewy body disease (PD, LBD, REM SBD) and synucleinopathies (including LBD, MSA)...
  56. pmc Genomewide association study in cervical dystonia demonstrates possible association with sodium leak channel
    Kin Y Mok
    Department of Molecular Neuroscience, University College London UCL Institute of Neurology, London, United Kingdom
    Mov Disord 29:245-51. 2014
    ..Dysfunction of this ion channel is a plausible cause for dystonia. Further replication in another cohort is needed to confirm this finding. We make this data publicly available to encourage further analyses of this disorder...
  57. pmc PREDICT-PD: identifying risk of Parkinson's disease in the community: methods and baseline results
    Alastair J Noyce
    Reta Lila Weston Institute of Neurological Studies, UCL Institute of Neurology, London, UK
    J Neurol Neurosurg Psychiatry 85:31-7. 2014
    ..To present methods and baseline results for an online screening tool to identify increased risk for Parkinson's disease (PD) in the UK population...
  58. pmc G2019S leucine-rich repeat kinase 2 causes uncoupling protein-mediated mitochondrial depolarization
    Tatiana D Papkovskaia
    Department of Clinical Neurosciences, Institute of Neurology, University College London, London NW3 2PF, UK
    Hum Mol Genet 21:4201-13. 2012
    ....
  59. doi request reprint Use of next-generation sequencing and other whole-genome strategies to dissect neurological disease
    Jose Bras
    Reta Lilla Weston Laboratories and Department of Molecular Neuroscience, Institute of Neurology, University College London, Queen Square, London WC1N 3BG, UK
    Nat Rev Neurosci 13:453-64. 2012
    ..Here, we review these advances and discuss how they have changed the approaches being used to study neurological disorders...
  60. pmc Integration of GWAS SNPs and tissue specific expression profiling reveal discrete eQTLs for human traits in blood and brain
    Dena G Hernandez
    Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD 20892 3707, USA
    Neurobiol Dis 47:20-8. 2012
    ..These observations suggest that design of eQTL mapping experiments should consider tissue of interest for the disease or other traits studied...
  61. pmc Quality control parameters on a large dataset of regionally dissected human control brains for whole genome expression studies
    Daniah Trabzuni
    Reta Lilla Weston Laboratories and Departments of Molecular Neuroscience, UCL Institute of Neurology, London, UK
    J Neurochem 119:275-82. 2011
    ..QuantiGene gave very similar expression profiles as array data. This study is the first step in our initiative to make human, regional brain expression freely available...
  62. pmc Clinical and neuroanatomical signatures of tissue pathology in frontotemporal lobar degeneration
    Jonathan D Rohrer
    Dementia Research Centre, UCL Institute of Neurology, Queen Square, London WC1N 3BG, UK
    Brain 134:2565-81. 2011
    ....
  63. pmc Parkinson's disease induced pluripotent stem cells with triplication of the α-synuclein locus
    Michael J Devine
    MRC Centre for Regenerative Medicine, Institute for Stem Cell Research, University of Edinburgh, Edinburgh EH9 3JQ, UK
    Nat Commun 2:440. 2011
    ..This model represents a new experimental system to identify compounds that reduce levels of α-synuclein, and to investigate the mechanistic basis of neurodegeneration caused by α-synuclein dysfunction...
  64. pmc The pallidopyramidal syndromes: nosology, aetiology and pathogenesis
    Eleanna Kara
    Department of Molecular Neuroscience, Reta Lila Weston Research Laboratories, UCL Institute of Neurology, London, UK
    Curr Opin Neurol 26:381-94. 2013
    ....
  65. pmc Novel pathogenic mutations in the glucocerebrosidase locus
    Raquel Duran
    Reta Lilla Weston Laboratories and Departments of Molecular Neuroscience, UCL Institute of Neurology, Queen Square, London WC1N 3BG, UK
    Mol Genet Metab 106:495-7. 2012
    ....
  66. pmc Exome sequencing in an SCA14 family demonstrates its utility in diagnosing heterogeneous diseases
    Anna Sailer
    Department of Molecular Neuroscience and Reta Lila Weston Laboratories, Institute of Neurology, University College London, London, UK
    Neurology 79:127-31. 2012
    ..Here we describe the use of exome sequencing to investigate a large, 5-generational British kindred with an autosomal dominant, progressive cerebellar ataxia in which conventional genetic testing had not revealed a causal etiology...
  67. doi request reprint Complement receptor 1 (CR1) and Alzheimer's disease
    Helen Crehan
    Reta Lila Weston Laboratories and Department of Molecular Neuroscience, UCL Institute of Neurology, Queen Square, London, United Kingdom
    Immunobiology 217:244-50. 2012
    ..Finally, we discuss the possible impact of CR1 genetic polymorphisms in relation to the amyloid cascade hypothesis of AD and the way in which CR1 may lead to AD pathogenesis...
  68. pmc Duplication of amyloid precursor protein (APP), but not prion protein (PRNP) gene is a significant cause of early onset dementia in a large UK series
    Daniel McNaughton
    MRC Prion Unit, Department of Neurodegenerative Disease, UCL Institute of Neurology, Queen Square, London, UK
    Neurobiol Aging 33:426.e13-21. 2012
    ..The recognized phenotype may be expanded to include the possibility of early seizures and apparently sporadic disease which, in part, may be due to different mutational mechanisms. The pros and cons of our screening method are discussed...
  69. ncbi request reprint GLUT1 gene mutations cause sporadic paroxysmal exercise-induced dyskinesias
    Susanne A Schneider
    Sobell Department of Motor Neuroscience and Movement Disorders, Institute of Neurology, UCL, Queen Square, London, United Kingdom
    Mov Disord 24:1684-8. 2009
    ..Brain MRI showed cerebellar atrophy in one case. Mutations in GLUT1 are one cause of apparently sporadic PED. The detection of this has important implications for treatment as ketogenic diet has been reported to be beneficial...
  70. pmc Glucocerebrosidase mutations in clinical and pathologically proven Parkinson's disease
    Juliane Neumann
    Department of Molecular Neuroscience, Institute of Neurology, University College London, London, UK
    Brain 132:1783-94. 2009
    ....
  71. pmc Assessment of Parkinson's disease risk loci in Greece
    Eleanna Kara
    Reta Lila Weston Laboratories and Department of Molecular Neuroscience, Institute of Neurology, University College London, London, UK
    Neurobiol Aging 35:442.e9-442.e16. 2014
    ..27% of Greek PD patients. Collectively, these results indicate that there is likely a substantial genetic component to PD in Greece, similarly to other worldwide populations, that remains to be discovered. ..
  72. pmc Genetic analysis in neurology: the next 10 years
    Alan Pittman
    Department of Molecular Neuroscience and Reta Lila Weston Laboratories, Institute of Neurology, University College London, England
    JAMA Neurol 70:696-702. 2013
    ..Herein, we review how these technological advances have changed the approaches being used to study the genetic basis of neurological disease and how the research findings will be translated into clinical utility...
  73. pmc Genetics and Pathophysiology of Neurodegeneration with Brain Iron Accumulation (NBIA)
    Susanne A Schneider
    Department of Neurology University of Kiel, 24105 Kiel, Germany Sobell Department of Motor Neuroscience and Movement Disorders, Institute of Neurology, UCL, Queen Square, London WC1N 3BG, UK
    Curr Neuropharmacol 11:59-79. 2013
    ..We also discuss genetic and molecular underpinnings of the NBIA syndromes. ..
  74. pmc Ageing increases vulnerability to aβ42 toxicity in Drosophila
    Iain Rogers
    Institute of Healthy Ageing and GEE, University College London, London, United Kingdom
    PLoS ONE 7:e40569. 2012
    ..Our results suggest that reduced protein turnover, increased duration of exposure and increased vulnerability to protein toxicity at later ages in combination could explain the late age-of-onset of neurodegenerative phenotypes...
  75. doi request reprint Epigenetic mechanisms in Alzheimer's disease: progress but much to do
    Robert Balazs
    Reta Lilla Weston Research Laboratories and Department of Molecular Neuroscience, UCL Institute of Neurology, London, UK
    Neurobiol Aging 32:1181-7. 2011
    ..The interesting review from Mastroeni and colleagues highlights recent progress on epigenetic analysis of Alzheimer's disease, but it also illustrates how much we still need to do...
  76. pmc Cancer and neurodegeneration: between the devil and the deep blue sea
    Helene Plun-Favreau
    Department of Molecular Neuroscience, UCL Institute of Neurology, London, United Kingdom
    PLoS Genet 6:e1001257. 2010
    ..In this review, we discuss recent and sometimes as yet incomplete genetic discoveries that highlight the overlap of molecular pathways implicated in cancer and neurodegeneration...
  77. ncbi request reprint Syndromes of neurodegeneration with brain iron accumulation (NBIA): an update on clinical presentations, histological and genetic underpinnings, and treatment considerations
    Susanne A Schneider
    Schilling Section of Clinical and Molecular Neurogenetics at the Department of Neurology, University of Lubeck, Lubeck, Germany
    Mov Disord 27:42-53. 2012
    ..Our aim in this review is to provide an overview of not only the historical developments, clinical features, investigational findings, and therapeutic results but also the genetic and molecular underpinnings of the NBIA syndromes...
  78. ncbi request reprint Human ataxias: a genetic dissection of inositol triphosphate receptor (ITPR1)-dependent signaling
    Stephanie Schorge
    Reta Lila Weston Laboratories and Department of Molecular Neuroscience, Institute of Neurology, University College London, London, WC1N 3BG, UK
    Trends Neurosci 33:211-9. 2010
    ....
  79. pmc Pathogenic LRRK2 mutations do not alter gene expression in cell model systems or human brain tissue
    Michael J Devine
    Department of Molecular Neuroscience, UCL Institute of Neurology, London, United Kingdom
    PLoS ONE 6:e22489. 2011
    ..This work suggests that LRRK2 is unlikely to play a direct role in modulation of gene expression, although it remains possible that this protein can influence mRNA expression under pathogenic cicumstances...
  80. ncbi request reprint Genotypic analysis of gene expression in the dissection of the aetiology of complex neurological and psychiatric diseases
    Mina Ryten
    Department of Molecular Neuroscience and Reta Lilla Weston Laboratories, Institute of Neurology, Queen Square, London, WC1N 3BG, UK
    Brief Funct Genomic Proteomic 8:194-8. 2009
    ..Such effects can be dissected by studies, which use genetic variability in mRNA expression as quantitative traits and regress these traits against genotype...
  81. pmc Parietal lobe deficits in frontotemporal lobar degeneration caused by a mutation in the progranulin gene
    Jonathan D Rohrer
    Dementia Research Centre, Institute of Neurology, University College London, London, England
    Arch Neurol 65:506-13. 2008
    ..To describe the clinical, neuropsychologic, and radiologic features of a family with a C31LfsX35 mutation in the progranulin gene CCDS11483.1)...
  82. doi request reprint Alzheimer's disease genetics: lessons to improve disease modelling
    Rita J Guerreiro
    Department of Molecular Neuroscience, University College London Institute of Neurology, Queen Square, London WC1N 3BG, UK
    Biochem Soc Trans 39:910-6. 2011
    ..These topics are essential for the development of animal models, which will be fundamental to our complete understanding of AD...
  83. ncbi request reprint Genome-wide analysis of the parkinsonism-dementia complex of Guam
    Huw R Morris
    Department of Molecular Pathogenesis and Sara Koe PSP Research Centre, Queen Square Brain Bank for Neurological Disorders, Insatitute of Neurology, University College London, London, England, UK
    Arch Neurol 61:1889-97. 2004
    ..It occurs in focal geographic isolates, including Guam and the Kii peninsula of Japan. The familial clustering of the disease has suggested that a genetic factor could be important in its etiology...
  84. ncbi request reprint The tau locus is not significantly associated with pathologically confirmed sporadic Parkinson's disease
    Rohan de Silva
    Reta Lila Weston Institute of Neurological Studies, Royal Free and University College Medical School, London, UK
    Neurosci Lett 330:201-3. 2002
    ....
  85. pmc PINK1 in mitochondrial function
    Helene Plun-Favreau
    Department of Molecular Neuroscience and Reta Lila Weston Laboratories, Institute of Neurology, University College London, Queen Square, London WC1N 3BG, United Kingdom
    Proc Natl Acad Sci U S A 105:11041-2. 2008
  86. ncbi request reprint G2019S dardarin substitution is a common cause of Parkinson's disease in a Portuguese cohort
    Jose Miguel Bras
    Neurology Service, Coimbra University Hospital, Coimbra, Portugal
    Mov Disord 20:1653-5. 2005
    ..Thus, LRRK2 mutations appear to be a common cause of typical Parkinson's disease and as such will alter clinical practice...
  87. ncbi request reprint Chromosome 21 BACE2 haplotype associates with Alzheimer's disease: a two-stage study
    Liisa Myllykangas
    Department of Pathology, Helsinki University Central Hospital, Helsinki, Finland
    J Neurol Sci 236:17-24. 2005
    ..08). BACE2 haplotype association with AD in two independent datasets provides further evidence for an AD susceptibility locus on chromosome 21q within or close to BACE2...
  88. ncbi request reprint Genome screen for loci influencing age at onset and rate of decline in late onset Alzheimer's disease
    Peter Holmans
    Biostatistics and Bioinformatics Unit, Wales College of Medicine, Heath Park, Cardiff, United Kingdom
    Am J Med Genet B Neuropsychiatr Genet 135:24-32. 2005
    ..08) and chromosome 9 (max LOD = 3.34). The previously reported genome-wide linkage of AD to chromosome 10 was not influenced by any of the covariates studied...
  89. ncbi request reprint No evidence for tau duplications in frontal temporal dementia families showing genetic linkage to the tau locus in which tau mutations have not been found
    Janel Johnson
    Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Building 10, Room 6C103, MSC1589, Bethesda, MD 20892, USA
    Neurosci Lett 363:99-101. 2004
    ..We did not find any such mutations...
  90. ncbi request reprint The dardarin G 2019 S mutation is a common cause of Parkinson's disease but not other neurodegenerative diseases
    Dena Hernandez
    Laboratory of Neurogenetics, National Institutes on Aging and of Neurological Diseases and Stroke, Bethesda, MD 20892, USA
    Neurosci Lett 389:137-9. 2005
    ..The mutation was found only in Parkinson's disease patients or their relatives and not in those with other neurodegenerative disease...
  91. ncbi request reprint Mutations in neurofilament genes are not a significant primary cause of non-SOD1-mediated amyotrophic lateral sclerosis
    Michael L Garcia
    Ludwig Institute for Cancer Research and Department of Neurosciences, University of California at San Diego, 9500 Gilman Drive, CMM E Room 3072, La Jolla, CA 92093 0670, USA
    Neurobiol Dis 21:102-9. 2006
    ..Thus, mutations in neurofilaments are possible risk factors that may contribute to pathogenesis in ALS in conjunction with one or more additional genetic or environmental factors, but are not significant primary causes of ALS...
  92. pmc Phosphodiesterase 4D and 5-lipoxygenase activating protein in ischemic stroke
    James F Meschia
    Department of Neurology, Mayo Clinic, Jacksonville, FL 32224, USA
    Ann Neurol 58:351-61. 2005
    ..There was no evidence of association between variants of ALOX5AP and ischemic stroke. These data suggest that common variants in PDE4D may contribute to the genetic risk for ischemic stroke in multiple populations...
  93. ncbi request reprint Taiwanese cases of SCA2 are derived from a single founder
    Parastoo Momeni
    Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, Maryland 20952, USA
    Mov Disord 20:1633-6. 2005
    ..In fact, our analysis showed that all SCA2 mutations carriers had the same ataxin 2 haplotype: haplotype B, which accounts for only 15% of control haplotypes, implying that there is a common founder for all Taiwanese SCA2 patients...
  94. ncbi request reprint Full genome screen for Alzheimer disease: stage II analysis
    Amanda Myers
    Department of Psychiatry, Washington University School of Medicine, St Louis, Missouri 63110, USA
    Am J Med Genet 114:235-44. 2002
    ..Of the seven markers we tested in family-based and case control samples, the only nominally positive association we found was with the 167 bp allele of marker D10S1217 (chi-square=7.11, P=0.045, df=1)...
  95. ncbi request reprint Interleukin-1A polymorphism is not associated with late onset Alzheimer's disease
    Liana Fidani
    Department of Pharmacology, School of Medicine, Aristotle University, 540 06, Thessaloniki, Greece
    Neurosci Lett 323:81-3. 2002
    ..No significant difference was detected in genotype or allele frequencies (odds ratios of 0.929 and 0.743, respectively; P>0.5). We conclude that IL-1A genotype is not a major risk factor for LOAD...
  96. ncbi request reprint Apolipoprotein E4 and tau allele frequencies among Choctaw Indians
    J Neil Henderson
    Department of Health Promotion Sciences, University of Oklahoma, Oklahoma City 73190, USA
    Neurosci Lett 324:77-9. 2002
    ....
  97. ncbi request reprint The human sideroflexin 5 (SFXN5) gene: sequence, expression analysis and exclusion as a candidate for PARK3
    Paul J Lockhart
    Mayo Clinic Jacksonville, Birdsall Building, 4500 San Pablo Road, Jacksonville, FL 32224, USA
    Gene 285:229-37. 2002
    ..Sequence analysis of 2p13 linked individuals affected with PD did not reveal any potentially pathogenic mutations within SFXN5, suggesting SFXN5 does not correspond to PARK3...
  98. ncbi request reprint SCA2 may present as levodopa-responsive parkinsonism
    Haydeh Payami
    Department of Neurology, Oregon Health and Science University, Portland, Oregon, USA
    Mov Disord 18:425-9. 2003
    ..The absence of borderline mutations in the normal population, and the co-segregation of the expanded allele with neurological signs in one kindred suggest that SCA2 mutations may be responsible for a subset of familial parkinsonism...
  99. ncbi request reprint Familial clustering of stroke according to proband age at onset of presenting ischemic stroke
    James F Meschia
    Dept of Neurology, Mayo Clinic, Jacksonville, Fla, USA
    Stroke 34:e89-91. 2003
    ..We investigated the relationship between age and inherited risk of stroke...
  100. ncbi request reprint Sequence variation in the CHAT locus shows no association with late-onset Alzheimer's disease
    Denise Harold
    Department of Psychological Medicine, University of Wales College of Medicine, CF14 4XN, Cardiff, UK
    Hum Genet 113:258-67. 2003
    ..Levels of linkage disequilibrium were generally low across the CHAT locus but two of the coding variants, D7N and A120T, proved to be in complete linkage disequilibrium...