Julie S Snowden

Summary

Affiliation: University of Manchester
Country: UK

Publications

  1. doi request reprint Frontotemporal dementia with amyotrophic lateral sclerosis: a clinical comparison of patients with and without repeat expansions in C9orf72
    Julie S Snowden
    Manchester Academic Health Sciences Centre, Cerebral Function Unit, Greater Manchester Neuroscience Centre, Salford Royal NHS Foundation Trust, Salford, UK
    Amyotroph Lateral Scler Frontotemporal Degener 14:172-6. 2013
  2. doi request reprint Progressive aphasia presenting with deep dyslexia and dysgraphia
    Julie S Snowden
    Cerebral Function Unit, Greater Manchester Neuroscience Centre, Salford Royal Foundation Trust, Salford, UK
    Cortex 48:1234-9. 2012
  3. pmc Distinct clinical and pathological characteristics of frontotemporal dementia associated with C9ORF72 mutations
    Julie S Snowden
    Cerebral Function Unit, Greater Manchester Neuroscience Centre, Salford Royal Foundation Trust, Salford, M6 8HD, UK
    Brain 135:693-708. 2012
  4. doi request reprint Famous people knowledge and the right and left temporal lobes
    Julie S Snowden
    Cerebral Function Unit, Greater Manchester Neuroscience Centre, Salford Royal Foundation Trust, Salford, UK
    Behav Neurol 25:35-44. 2012
  5. doi request reprint Progressive anomia revisited: focal degeneration associated with progranulin gene mutation
    Julie S Snowden
    School of Translational Medicine, University of Manchester, Hope Hospital, Salford, UK
    Neurocase 13:366-77. 2007
  6. doi request reprint Emotion recognition in Huntington's disease and frontotemporal dementia
    J S Snowden
    Cerebral Function Unit, Greater Manchester Neuroscience Centre, Salford Royal Foundation Trust, Hope Hospital, Salford, United Kingdom
    Neuropsychologia 46:2638-49. 2008
  7. ncbi request reprint Cognitive phenotypes in Alzheimer's disease and genetic risk
    Julie S Snowden
    Clinical Neuroscience Research Group, Greater Manchester Neuroscience Centre, Hope Hospital, Salford, UK
    Cortex 43:835-45. 2007
  8. ncbi request reprint Frontotemporal lobar degeneration: clinical and pathological relationships
    Julie Snowden
    Clinical Neurosciences Research Group, School of Translational Medicine, University of Manchester and Greater Manchester Neurosciences Centre, Salford Royal Foundation Trust, Salford, UK
    Acta Neuropathol 114:31-8. 2007
  9. doi request reprint The clinical diagnosis of early-onset dementias: diagnostic accuracy and clinicopathological relationships
    Julie S Snowden
    Cerebral Function Unit, Greater Manchester Neuroscience Centre, Salford Royal NHS Foundation Trust, Salford M6 8HD, UK
    Brain 134:2478-92. 2011
  10. doi request reprint Frequency and clinical characteristics of progranulin mutation carriers in the Manchester frontotemporal lobar degeneration cohort: comparison with patients with MAPT and no known mutations
    Stuart M Pickering-Brown
    Clinical Neuroscience Research Group, Faculty of Medical and Human Sciences, University of Manchester, Oxford Rd, Manchester M13 9PT, UK
    Brain 131:721-31. 2008

Detail Information

Publications58

  1. doi request reprint Frontotemporal dementia with amyotrophic lateral sclerosis: a clinical comparison of patients with and without repeat expansions in C9orf72
    Julie S Snowden
    Manchester Academic Health Sciences Centre, Cerebral Function Unit, Greater Manchester Neuroscience Centre, Salford Royal NHS Foundation Trust, Salford, UK
    Amyotroph Lateral Scler Frontotemporal Degener 14:172-6. 2013
    ..The presence of psychiatric symptoms in the context of FTD-ALS should alert clinicians to the possibility of C9orf72 expansions...
  2. doi request reprint Progressive aphasia presenting with deep dyslexia and dysgraphia
    Julie S Snowden
    Cerebral Function Unit, Greater Manchester Neuroscience Centre, Salford Royal Foundation Trust, Salford, UK
    Cortex 48:1234-9. 2012
    ..The findings have potential practical implications for speech and language therapy in progressive aphasia. Moreover, they illustrate both the remarkable specificity yet clinical diversity in presentation of progressive aphasia...
  3. pmc Distinct clinical and pathological characteristics of frontotemporal dementia associated with C9ORF72 mutations
    Julie S Snowden
    Cerebral Function Unit, Greater Manchester Neuroscience Centre, Salford Royal Foundation Trust, Salford, M6 8HD, UK
    Brain 135:693-708. 2012
    ..Mutations in the C9ORF72 gene may be a major cause not only of frontotemporal dementia with motor neuron disease but also of late onset psychosis...
  4. doi request reprint Famous people knowledge and the right and left temporal lobes
    Julie S Snowden
    Cerebral Function Unit, Greater Manchester Neuroscience Centre, Salford Royal Foundation Trust, Salford, UK
    Behav Neurol 25:35-44. 2012
    ..The data present a challenge for the influential `semantic hub' model, which views the anterior temporal lobes as an area of convergence in which semantic information is represented in amodal form...
  5. doi request reprint Progressive anomia revisited: focal degeneration associated with progranulin gene mutation
    Julie S Snowden
    School of Translational Medicine, University of Manchester, Hope Hospital, Salford, UK
    Neurocase 13:366-77. 2007
    ..The case exemplifies the heterogeneity of clinical expression of FTLD and contributes to understanding of primary progressive aphasia...
  6. doi request reprint Emotion recognition in Huntington's disease and frontotemporal dementia
    J S Snowden
    Cerebral Function Unit, Greater Manchester Neuroscience Centre, Salford Royal Foundation Trust, Hope Hospital, Salford, United Kingdom
    Neuropsychologia 46:2638-49. 2008
    ..The data raise the possibility that linguistic influences and conceptual complexities of the emotion of disgust may contribute to the variable finding of selective disgust impairment in HD...
  7. ncbi request reprint Cognitive phenotypes in Alzheimer's disease and genetic risk
    Julie S Snowden
    Clinical Neuroscience Research Group, Greater Manchester Neuroscience Centre, Hope Hospital, Salford, UK
    Cortex 43:835-45. 2007
    ..The findings indicate that risk factors other than APOE epsilon4 allele underlie the non-familial, early onset posterior hemisphere presentations of AD...
  8. ncbi request reprint Frontotemporal lobar degeneration: clinical and pathological relationships
    Julie Snowden
    Clinical Neurosciences Research Group, School of Translational Medicine, University of Manchester and Greater Manchester Neurosciences Centre, Salford Royal Foundation Trust, Salford, UK
    Acta Neuropathol 114:31-8. 2007
    ..The findings emphasise the importance of refined delineation of both clinical and pathological phenotype in furthering understanding of FTLD and its molecular substrate...
  9. doi request reprint The clinical diagnosis of early-onset dementias: diagnostic accuracy and clinicopathological relationships
    Julie S Snowden
    Cerebral Function Unit, Greater Manchester Neuroscience Centre, Salford Royal NHS Foundation Trust, Salford M6 8HD, UK
    Brain 134:2478-92. 2011
    ..Moreover, careful clinical phenotyping allows prediction of histopathological subtype of frontotemporal lobar degeneration. The principles guiding diagnosis provide the foundation for future prospective studies...
  10. doi request reprint Frequency and clinical characteristics of progranulin mutation carriers in the Manchester frontotemporal lobar degeneration cohort: comparison with patients with MAPT and no known mutations
    Stuart M Pickering-Brown
    Clinical Neuroscience Research Group, Faculty of Medical and Human Sciences, University of Manchester, Oxford Rd, Manchester M13 9PT, UK
    Brain 131:721-31. 2008
    ..These findings complement recent clinico-pathological findings in suggesting identifiable associations between clinical phenotype and genotype in FTLD...
  11. doi request reprint Variability in cognitive presentation of Alzheimer's disease
    Cheryl L Stopford
    Cerebral Function Unit, Greater Manchester Neuroscience Centre, Salford Royal Hospital NHS Foundation Trust, Salford, UK
    Cortex 44:185-95. 2008
    ..The findings emphasise variability in presentation and indicate that distinct phenotypic variations appear to lie on a continuum rather than representing discrete forms of disease...
  12. doi request reprint Classification and pathology of primary progressive aphasia
    Jennifer M Harris
    From the Manchester Academic Health Sciences Centre J M H, C G, J C T, A M T R, D N, D d P, P P, D M A M, J S S, M J, Cerebral Function Unit, Greater Manchester Neuroscience Centre, Salford Royal NHS Foundation Trust, Salford and Institute of Brain, Behaviour and Mental Health J M H, D N, D M A M, J S S, M J, University of Manchester, UK
    Neurology 81:1832-9. 2013
    ..We aimed to determine the extent to which patients with progressive language impairment conform to 2011 primary progressive aphasia (PPA) classification and to examine clinicopathologic correlations within PPA variants...
  13. ncbi request reprint Apolipoprotein E epsilon4 allele frequency and age at onset of Alzheimer's disease
    Yvonne Davidson
    Clinical Neuroscience Research Group, Division of Medicine and Neuroscience, University of Manchester, Greater Manchester Neurosciences Centre, Hope Hospital, Salford, UK
    Dement Geriatr Cogn Disord 23:60-6. 2007
    ..44, was highest in the 60-69 years age class, progressively decreasing either side of this age group. APOE epsilon4 allele therefore has its maximum impact between onset ages of between 60 and 70 years...
  14. doi request reprint Working memory, attention, and executive function in Alzheimer's disease and frontotemporal dementia
    Cheryl L Stopford
    Cerebral Function Unit, Greater Manchester Neuroscience Centre, Salford Royal NHS Foundation Trust, UK
    Cortex 48:429-46. 2012
    ..They underline also the phenotypic variation within AD...
  15. ncbi request reprint Ubiquitinated pathological lesions in frontotemporal lobar degeneration contain the TAR DNA-binding protein, TDP-43
    Yvonne Davidson
    Clinical Neuroscience Research Group, Division of Medicine and Neuroscience, Greater Manchester Neurosciences Centre, Hope Hospital, University of Manchester, Salford, M6 8HD, UK
    Acta Neuropathol 113:521-33. 2007
    ..We conclude that the UBQ-ir lesions of FTLD and MND are defined by the presence of TDP-43, and that these disorders can be subsumed into a single disease entity under the umbrella of TDP-43 proteinopathy...
  16. doi request reprint TDP-43 pathological changes in early onset familial and sporadic Alzheimer's disease, late onset Alzheimer's disease and Down's syndrome: association with age, hippocampal sclerosis and clinical phenotype
    Yvonne S Davidson
    Mental Health and Neurodegeneration Research Group, Salford Royal Foundation Trust, University of Manchester, Salford M6 8HD, UK
    Acta Neuropathol 122:703-13. 2011
    ..005), but this association disappeared when TDP-43-positive cases were excluded from the analysis. TDP-43 may, after all, be integral to the pathology of AD, and to some extent determine the clinical phenotype present...
  17. doi request reprint Sensitivity and specificity of FTDC criteria for behavioral variant frontotemporal dementia
    Jennifer M Harris
    Manchester Academic Health Sciences Centre, Cerebral Function Unit, Greater Manchester Neuroscience Centre, Salford Royal NHS Foundation Trust, Salford, UK
    Neurology 80:1881-7. 2013
    ..We aimed to assess sensitivity and specificity of the updated criteria for behavioral variant frontotemporal dementia (bvFTD) based on a large autopsy-confirmed cohort of patients with dementia...
  18. ncbi request reprint Progressive anomia with preserved oral spelling and automatic speech
    Julie S Snowden
    Cerebral Function Unit, Greater Manchester Neuroscience Centre, Hope Hospital, Salford, UK
    Neurocase 9:27-43. 2003
    ....
  19. doi request reprint Longitudinal evaluation of neuropsychiatric symptoms in Huntington's disease
    Jennifer C Thompson
    Cerebral Function Unit, Greater Manchester Neuroscience Centre, Salford Royal NHS Foundation Trust, Salford, UK
    J Neuropsychiatry Clin Neurosci 24:53-60. 2012
    ..Depression did not increase significantly at any stage of disease. The neuropsychiatric syndrome of apathy appears to be intrinsic to the evolution and progression of HD...
  20. doi request reprint Cognitive phenotypes in Alzheimer's disease and genetic variants in ACE and IDE
    Emma R L C Vardy
    Cerebral Function Unit, Salford Royal NHS Foundation Trust, Salford, UK
    Neurobiol Aging 33:1486.e1-2. 2012
    ..Of the 10 genetic variants of IDE, and the 3 genetic variants of ACE studied, only ACErs4291 and ACErs1800764 were nominally associated with the amnestic presentation...
  21. ncbi request reprint New learning and remote memory in atypical Alzheimer's disease
    Jennifer C Thompson
    Cerebral Function Unit, Greater Manchester Neuroscience Centre, Hope Hospital, Manchester, Salford, UK
    Cortex 39:751-66. 2003
    ..e. 'old' versus 'recent') are considered, with particular reference to the contrasting theoretical frameworks that have recently been advanced by Squire and Moscovitch...
  22. ncbi request reprint TDP-43 gene analysis in frontotemporal lobar degeneration
    Sara Rollinson
    Division of Regenerative Medicine, Department of Medicine, University of Manchester, Oxford Road, Manchester M13 9PT, UK
    Neurosci Lett 419:1-4. 2007
    ..We found no evidence of TDP-43 variation increasing risk for FTLD in this cohort. These data suggest that TDP-43 accumulation is a consequence of the disease process underlying FTLD...
  23. doi request reprint The most common type of FTLD-FUS (aFTLD-U) is associated with a distinct clinical form of frontotemporal dementia but is not related to mutations in the FUS gene
    Julie S Snowden
    Mental Health and Neurodegeneration Research Group, Faculty of Human and Medical Sciences, University of Manchester, Manchester, UK
    Acta Neuropathol 122:99-110. 2011
    ..Whether mutations in the FUS gene cause some cases of FTLD remains unresolved...
  24. ncbi request reprint Histopathological changes underlying frontotemporal lobar degeneration with clinicopathological correlation
    Jing Shi
    Clinical Neuroscience Research Group, University of Manchester, Greater Manchester Neurosciences Centre, Hope Hospital, Stott Lane, Salford M6 8HD, UK
    Acta Neuropathol 110:501-12. 2005
    ....
  25. doi request reprint Understanding quantity in semantic dementia
    Camille L Julien
    Cerebral Function Unit, Greater Manchester Neuroscience Centre, Salford Royal Foundation Trust, Salford, UK
    Cogn Neuropsychol 27:3-29. 2010
    ..The findings challenge the view that knowledge of quantity is totally preserved in SD and suggest that the temporal lobes have a contributory role in the conceptual understanding of quantity...
  26. pmc Granular expression of prolyl-peptidyl isomerase PIN1 is a constant and specific feature of Alzheimer's disease pathology and is independent of tau, Aβ and TDP-43 pathology
    Ayoub Dakson
    Mental Health and Neurodegeneration Research Group, School of Community Based Medicine, Faculty of Medical and Human Sciences, Hope Hospital, Greater Manchester Neurosciences Centre, University of Manchester, Stott Lane, Salford, M6 8HD, UK
    Acta Neuropathol 121:635-49. 2011
    ..Present findings indicate that PIN1 changes are a constant feature of AD pathology and could serve as a biomarker of the onset or spread of AD neuropathology independent of tau or Aβ...
  27. ncbi request reprint Distinct memory profiles in Alzheimer's disease
    Cheryl L Stopford
    Cerebral Function Unit, Greater Manchester Neuroscience Centre, Hope Hospital, Salford, UK
    Cortex 43:846-57. 2007
    ..The link between working memory and language performance, together with findings of posterior hemisphere abnormalities on neuroimaging, lead us to reassess the nature of working memory deficits in AD...
  28. doi request reprint Personal experience and arithmetic meaning in semantic dementia
    Camille L Julien
    Cerebral Function Unit, Greater Manchester Neuroscience Centre, Salford Royal Foundation Trust, Salford, UK
    Neuropsychologia 48:278-87. 2010
    ..The findings provide convincing evidence that autobiographical relevance influences SD patients' arithmetic performance. Moreover, they challenge current views on conceptual number knowledge as a unitary, abstract competence...
  29. doi request reprint Automaticity and attention in Huntington's disease: when two hands are not better than one
    Jennifer C Thompson
    Cerebral Function Unit, Greater Manchester Neuroscience Centre, Salford Royal NHS Foundation Trust, M6 8HD, UK
    Neuropsychologia 48:171-8. 2010
    ..The findings have implications for the interpretation of 'high level' deficits in attention and executive function previously reported in HD...
  30. doi request reprint Behaviour in amyotrophic lateral sclerosis
    Zoe C Gibbons
    Cerebral Function Unit, Greater Manchester Neuroscience Centre, Hope Hospital, Salford, UK
    Amyotroph Lateral Scler 9:67-74. 2008
    ..Thus, behavioural changes of the type seen in FTD may be present even in a small consecutive cohort of ALS patients. Detection of behavioural change is crucial for optimal management...
  31. pmc Nuclear Carrier and RNA Binding Proteins in Frontotemporal Lobar Degeneration associated with Fused in Sarcoma (FUS) pathological changes
    Yvonne S Davidson
    Mental Health and Neurodegeneration Research Group, Faculty of Human and Medical Sciences, University of Manchester, Manchester, UK Northwestern CNADC Neuropathology Core, Northwestern University Feinberg School of Medicine, Chicago, USA Department of Neuropathology, Walton Centre for Neurology and Neurosurgery, Liverpool, UK Neuropathology Cellular Pathology, Royal Victoria Infirmary, Newcastle upon Tyne, UK Institute for Ageing and Health, Campus for Ageing and Vitality, Newcastle University, Newcastle upon Tyne, UK Departments of Neurology and Pathology and Immunology, Washington University School of Medicine, St Louis, Missouri 63110, USA Cerebral Function Unit, Greater Manchester Neuroscience Centre, Salford Royal Foundation Trust, UK
    Neuropathol Appl Neurobiol . 2012
    ..2012 The Authors. Neuropathology and Applied Neurobiology © 2012 British Neuropathological Society...
  32. ncbi request reprint Frontotemporal dementia
    Julie S Snowden
    Greater Manchester Neuroscience Centre, Hope Hospital, Salford, UK
    Br J Psychiatry 180:140-3. 2002
    ..Frontotemporal dementia accounts for up to 20% of cases of dementia in the presenium, yet remains poorly recognised. Diagnostic criteria have been devised to aid clinical diagnosis...
  33. ncbi request reprint Behavior in Huntington's disease: dissociating cognition-based and mood-based changes
    Jennifer C Thompson
    Cerebral Function Unit, Greater Manchester Neuroscience Center, Salford, United Kingdom
    J Neuropsychiatry Clin Neurosci 14:37-43. 2002
    ..The findings suggest that certain behavioral alterations are intrinsic to the evolution and progression of HD, whereas others are more variable and are independent of other indices of disease progression...
  34. pmc Psychiatric disorders in preclinical Huntington's disease
    Camille L Julien
    Cerebral Function Unit, Greater Manchester Neuroscience Centre, Hope Hospital, Salford, UK
    J Neurol Neurosurg Psychiatry 78:939-43. 2007
    ..Few studies have investigated the temporal course of psychiatric disorder across the preclinical period...
  35. pmc Qualitative neuropsychological performance characteristics in frontotemporal dementia and Alzheimer's disease
    J C Thompson
    Cerebral Function Unit, Greater Manchester Neuroscience Centre, Hope Hospital, Salford M6 8HD, UK
    J Neurol Neurosurg Psychiatry 76:920-7. 2005
    ..A possible reason is that studies typically rely on overall accuracy scores, which may obscure differences in reasons for failure...
  36. ncbi request reprint Knowledge of famous faces and names in semantic dementia
    J S Snowden
    Cerebral Function Unit, Greater Manchester Neuroscience Centre, Hope Hospital, Salford M6 8HD, UK
    Brain 127:860-72. 2004
    ..Moreover, they lead us to argue that the focal syndrome of progressive prosopagnosia is one of the clinical presentations of semantic dementia and not a separate clinical entity...
  37. doi request reprint Arithmetic knowledge in semantic dementia: is it invariably preserved?
    C L Julien
    Cerebral Function Unit, Greater Manchester Neuroscience Centre, Salford Royal Hospital, Stott Lane, Salford M6 8HD, UK
    Neuropsychologia 46:2732-44. 2008
    ..The findings challenge the notion of arithmetic knowledge as a totally separate semantic domain and suggest that the temporal lobes play an important role in arithmetic understanding...
  38. doi request reprint Sporadic Creutzfeldt-Jakob disease presenting as progressive nonfluent aphasia with speech apraxia
    Christopher Kobylecki
    Cerebral Function Unit Department of Neuroradiology, Greater Manchester Neurosciences Centre, Salford Mental Health and Neurodegeneration Research Group, School of Community Based Medicine School of Cancer and Enabling Sciences, University of Manchester, Manchester Department of Neurology, Royal Preston Hospital, Preston National CJD Research and Surveillance Unit, Western General Hospital, Edinburgh, UK
    Alzheimer Dis Assoc Disord 27:384-6. 2013
    ..While the presence of PNFA with speech apraxia is thought to predict underlying tauopathy, sporadic Creutzfeldt-Jakob disease may mimic this presentation and present in a highly circumscribed form not previously described. ..
  39. ncbi request reprint Relearning of verbal labels in semantic dementia
    Julie S Snowden
    Cerebral Function Unit, Greater Manchester Neuroscience Centre, Hope Hospital, Salford, Manchester, UK
    Neuropsychologia 40:1715-28. 2002
    ..The findings challenge the traditional semantic-episodic memory dichotomy and are consistent with a "levels of meaning" account of semantic memory...
  40. pmc Qualitative performance characteristics differentiate dementia with Lewy bodies and Alzheimer's disease
    E K Doubleday
    Greater Manchester Neuroscience Centre, Hope Hospital, Salford, UK
    J Neurol Neurosurg Psychiatry 72:602-7. 2002
    ..To determine whether dementia with Lewy bodies (DLB) and Alzheimer's disease (AD) can be differentiated on the basis of qualitative performance characteristics during neuropsychological evaluation...
  41. ncbi request reprint Inferring thought and action in motor neurone disease
    Z C Gibbons
    Cerebral Function Unit, Greater Manchester Neuroscience Centre, Hope Hospital, Salford M6 8HD, UK
    Neuropsychologia 45:1196-207. 2007
    ..The findings contribute to the understanding of ToM performance in neurodegenerative disease and provide further evidence of the association between MND and FTD...
  42. pmc Distinct neuropsychological characteristics in Creutzfeldt-Jakob disease
    J S Snowden
    Greater Manchester Neuroscience Centre, Hope Hospital, Salford, UK
    J Neurol Neurosurg Psychiatry 73:686-94. 2002
    ..To characterise the nature of cognitive change in Creutzfeldt-Jakob disease (CJD)...
  43. ncbi request reprint Social cognition in frontotemporal dementia and Huntington's disease
    J S Snowden
    Cerebral Function Unit, Greater Manchester Neuroscience Centre, Hope Hospital, Salford M6 8HD, UK
    Neuropsychologia 41:688-701. 2003
    ..It is concluded that social breakdown in FTD and HD may have a different underlying basis and that the frontal neocortex and striatum have distinct contributions to social behaviour...
  44. ncbi request reprint Diagnostic patterns of regional atrophy on MRI and regional cerebral blood flow change on SPECT in young onset patients with Alzheimer's disease, frontotemporal dementia and vascular dementia
    A R Varma
    Cerebral Function Unit, Neurology Department, Manchester Royal Infirmary, Central Manchester Healthcare Trust, Manchester, UK
    Acta Neurol Scand 105:261-9. 2002
    ....
  45. pmc Accuracy of single-photon emission computed tomography in differentiating frontotemporal dementia from Alzheimer's disease
    R McNeill
    Department of Neurology, Cerebral Function Unit, Greater Manchester Neurosciences Centre, Salford, Manchester, UK
    J Neurol Neurosurg Psychiatry 78:350-5. 2007
    ..Confirmation is often sought from neuroimaging, including single-photon emission computed tomography (SPECT). Most previous SPECT studies lack pathological validation...
  46. ncbi request reprint Diagnostic value of high signal abnormalities on T2 weighted MRI in the differentiation of Alzheimer's, frontotemporal and vascular dementias
    Anoop R Varma
    Cerebral Function Unit, Neurology Department, Manchester Royal Infirmary, Central Manchester Healthcare Trust, Oxford Road, Manchester, UK
    Acta Neurol Scand 105:355-64. 2002
    ..We studied the potential of high signal changes on magnetic resonance imaging (MRI) in differentiating Alzheimer's disease (AD), frontotemporal dementia (FTD) and vascular dementia (VaD) in younger patients...
  47. ncbi request reprint Progranulin gene mutations associated with frontotemporal dementia and progressive non-fluent aphasia
    J S Snowden
    Clinical Neuroscience Research Group, University of Manchester Salford, Manchester, UK
    Brain 129:3091-102. 2006
    ..The findings provide compelling evidence for the link between FTD and PNFA, while raising the possibility of identifiable clinical differences between FTLD patients with MAPT and PGRN mutations...
  48. ncbi request reprint Inherited frontotemporal dementia in nine British families associated with intronic mutations in the tau gene
    S M Pickering-Brown
    The School of Biological Sciences, Division of Neuroscience, University of Manchester, UK
    Brain 125:732-51. 2002
    ..All eight families with the +16 mutation seem to be part of a common extended pedigree, possibly originating from a founder member residing within the North Wales region of Great Britain...
  49. ncbi request reprint Frontotemporal dementia with Pick-type histology associated with Q336R mutation in the tau gene
    S M Pickering-Brown
    Greater Manchester Neurosciences Centre, Humphrey Booth Building, Hope Hospital, Stott Lane, Salford M6 8HD, UK
    Brain 127:1415-26. 2004
    ....
  50. pmc Autopsy proven sporadic frontotemporal dementia due to microvacuolar-type histology, with onset at 21 years of age
    J S Snowden
    Neuroscience Research Group, University of Manchester, Greater Manchester Neurosciences Centre, Hope Hospital, Salford, UK
    J Neurol Neurosurg Psychiatry 75:1337-9. 2004
    ..There was no family history of dementia and no mutation in the tau gene. We believe this patient represents the youngest (so far) recorded case of FTD associated with this particular histological form of the disorder...
  51. pmc The apolipoprotein E epsilon4 allele selectively increases the risk of frontotemporal lobar degeneration in males
    R Srinivasan
    Clinical Neurosciences Research Group, University of Manchester, UK
    J Neurol Neurosurg Psychiatry 77:154-8. 2006
    ..To determine whether polymorphic variations in the apolipoprotein E gene (APOE) are associated with increased risk of frontotemporal lobar degeneration (FTLD) when mutation in tau gene is absent...
  52. pmc Genetic associations between cathepsin D exon 2 C-->T polymorphism and Alzheimer's disease, and pathological correlations with genotype
    Y Davidson
    Clinical Neuroscience Research Group, University of Manchester, Greater Manchester Neurosciences Centre, Hope Hospital, Stott Lane, Salford M6 8HD, Manchester, UK
    J Neurol Neurosurg Psychiatry 77:515-7. 2006
    ....
  53. ncbi request reprint Phenotypic variability associated with progranulin haploinsufficiency in patients with the common 1477C-->T (Arg493X) mutation: an international initiative
    Rosa Rademakers
    Department of Neuroscience, Mayo Clinic College of Medicine, Jacksonville, FL 32224, USA
    Lancet Neurol 6:857-68. 2007
    ..The most common mutation in GRN is Arg493X. We aimed to establish the contribution of this mutation to FTLD and related disorders...
  54. ncbi request reprint Frontotemporal dementia
    David Neary
    Clinical Neuroscience Group, Hope Hospital, Salford, Greater Manchester M6 8HD, UK
    Lancet Neurol 4:771-80. 2005
    ..FTD provides a challenge both for clinical management and for theoretical understanding of its neurobiological substrate...
  55. ncbi request reprint Mutations in progranulin cause tau-negative frontotemporal dementia linked to chromosome 17
    Matt Baker
    Department of Neuroscience, Mayo Clinic College of Medicine, 4500 San Pablo Road, Jacksonville, Florida 32224, USA
    Nature 442:916-9. 2006
    ..Our results identify mutations in PGRN as a cause of neurodegenerative disease and indicate the importance of PGRN function for neuronal survival...
  56. ncbi request reprint CHMP2B mutations are not a common cause of frontotemporal lobar degeneration
    Ashley Cannon
    Department of Neuroscience, Mayo Clinic College of Medicine, 4500 San Pablo Road, Jacksonville, FL 32224, USA
    Neurosci Lett 398:83-4. 2006
    ..Polymorphisms were detected but were present in control samples. We conclude that mutations in CHMP2B are a rare cause of familial FTLD and may be specific to the Danish pedigree...
  57. ncbi request reprint Dilatation of the Virchow-Robin space is a sensitive indicator of cerebral microvascular disease: study in elderly patients with dementia
    Tufail F Patankar
    Institutions Imaging Science and Biomedical Engineering, School of Medicine, University of Manchester, UK
    AJNR Am J Neuroradiol 26:1512-20. 2005
    ..The aim of our study was to test the hypothesis that dilatation of VRS is associated with subcortical vascular dementia...
  58. ncbi request reprint Evidence of a founder effect in families with frontotemporal dementia that harbor the tau +16 splice mutation
    Stuart Pickering-Brown
    Institute of Psychiatry, Section of Old Age Psychiatry, Denmark Hill, London, United Kingdom
    Am J Med Genet B Neuropsychiatr Genet 125:79-82. 2004
    ..Furthermore, this single large pedigree may be of use in the identification of disease modifying loci in FTD...