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Genomes and GenesSpecies | Julie S SnowdenSummaryAffiliation: University of Manchester Country: UK Publications
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Publications
Frontotemporal dementia with amyotrophic lateral sclerosis: a clinical comparison of patients with and without repeat expansions in C9orf72Julie 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...- Progressive aphasia presenting with deep dyslexia and dysgraphiaJulie 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... 
Distinct clinical and pathological characteristics of frontotemporal dementia associated with C9ORF72 mutationsJulie 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...- Famous people knowledge and the right and left temporal lobesJulie 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... - The clinical diagnosis of early-onset dementias: diagnostic accuracy and clinicopathological relationshipsJulie 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... - Progressive anomia revisited: focal degeneration associated with progranulin gene mutationJulie 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... - Emotion recognition in Huntington's disease and frontotemporal dementiaJ 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... 
Cognitive phenotypes in Alzheimer's disease and genetic riskJulie 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...- Frontotemporal lobar degeneration: clinical and pathological relationshipsJulie 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... - Frequency and clinical characteristics of progranulin mutation carriers in the Manchester frontotemporal lobar degeneration cohort: comparison with patients with MAPT and no known mutationsStuart 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... - Variability in cognitive presentation of Alzheimer's diseaseCheryl 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... - Working memory, attention, and executive function in Alzheimer's disease and frontotemporal dementiaCheryl 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... - Ubiquitinated pathological lesions in frontotemporal lobar degeneration contain the TAR DNA-binding protein, TDP-43Yvonne 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... - 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 phenotypeYvonne 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... - Progressive anomia with preserved oral spelling and automatic speechJulie S Snowden
Cerebral Function Unit, Greater Manchester Neuroscience Centre, Hope Hospital, Salford, UK
Neurocase 9:27-43. 2003.... - Longitudinal evaluation of neuropsychiatric symptoms in Huntington's diseaseJennifer 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... - Apolipoprotein E epsilon4 allele frequency and age at onset of Alzheimer's diseaseYvonne 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... - Histopathological changes underlying frontotemporal lobar degeneration with clinicopathological correlationJing Shi
Clinical Neuroscience Research Group, University of Manchester, Greater Manchester Neurosciences Centre, Hope Hospital, Stott Lane, Salford M6 8HD, UK
Acta Neuropathol (Berl) 110:501-12. 2005.... - New learning and remote memory in atypical Alzheimer's diseaseJennifer 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... - 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 geneJulie 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... - TDP-43 gene analysis in frontotemporal lobar degenerationSara 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... - Understanding quantity in semantic dementiaCamille 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... - 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 pathologyAyoub 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... - Distinct memory profiles in Alzheimer's diseaseCheryl 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... - Automaticity and attention in Huntington's disease: when two hands are not better than oneJennifer 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... - Personal experience and arithmetic meaning in semantic dementiaCamille 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... - Nuclear Carrier and RNA Binding Proteins in Frontotemporal Lobar Degeneration associated with Fused in Sarcoma (FUS) pathological changesYvonne 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... - Behavior in Huntington's disease: dissociating cognition-based and mood-based changesJennifer 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... - Frontotemporal dementiaJulie 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... - Psychiatric disorders in preclinical Huntington's diseaseCamille 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... - Behaviour in amyotrophic lateral sclerosisZoe 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... - Cognitive phenotypes in Alzheimer's disease and genetic variants in ACE and IDEEmma 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... - Knowledge of famous faces and names in semantic dementiaJ 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... - Qualitative neuropsychological performance characteristics in frontotemporal dementia and Alzheimer's diseaseJ 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... - 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... - Relearning of verbal labels in semantic dementiaJulie 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... - Qualitative performance characteristics differentiate dementia with Lewy bodies and Alzheimer's diseaseE K Doubleday
Greater Manchester Neuroscience Centre, Hope Hospital, Salford, UK
J Neurol Neurosurg Psychiatry 72:602-7. 2002..As many features are amenable to detection at clinical interview, they ought to contribute to clinicians' diagnostic armoury, leading to improved clinical recognition of DLB... - Social cognition in frontotemporal dementia and Huntington's diseaseJ 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... - Distinct neuropsychological characteristics in Creutzfeldt-Jakob diseaseJ 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)... - Inferring thought and action in motor neurone diseaseZ 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... - 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 dementiaA R Varma
Cerebral Function Unit, Neurology Department, Manchester Royal Infirmary, Central Manchester Healthcare Trust, Manchester, UK
Acta Neurol Scand 105:261-9. 2002.... - Accuracy of single-photon emission computed tomography in differentiating frontotemporal dementia from Alzheimer's diseaseR 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... - Diagnostic value of high signal abnormalities on T2 weighted MRI in the differentiation of Alzheimer's, frontotemporal and vascular dementiasAnoop 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... - Progranulin gene mutations associated with frontotemporal dementia and progressive non-fluent aphasiaJ 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... - Frontotemporal dementia with Pick-type histology associated with Q336R mutation in the tau geneS M Pickering-Brown
Greater Manchester Neurosciences Centre, Humphrey Booth Building, Hope Hospital, Stott Lane, Salford M6 8HD, UK
Brain 127:1415-26. 2004.... - Autopsy proven sporadic frontotemporal dementia due to microvacuolar-type histology, with onset at 21 years of ageJ 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... - Inherited frontotemporal dementia in nine British families associated with intronic mutations in the tau geneS 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... - The apolipoprotein E epsilon4 allele selectively increases the risk of frontotemporal lobar degeneration in malesR 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... - Genetic associations between cathepsin D exon 2 C-->T polymorphism and Alzheimer's disease, and pathological correlations with genotypeY 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.... - Phenotypic variability associated with progranulin haploinsufficiency in patients with the common 1477C-->T (Arg493X) mutation: an international initiativeRosa 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... - Frontotemporal dementiaDavid 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... - Mutations in progranulin cause tau-negative frontotemporal dementia linked to chromosome 17Matt 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... - CHMP2B mutations are not a common cause of frontotemporal lobar degenerationAshley 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... - Evidence of a founder effect in families with frontotemporal dementia that harbor the tau +16 splice mutationStuart 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... - Dilatation of the Virchow-Robin space is a sensitive indicator of cerebral microvascular disease: study in elderly patients with dementiaTufail F Patankar
Institutions Imaging Science and Biomedical Engineering, School of Medicine, University of Manchester, UK
AJNR Am J Neuroradiol 26:1512-20. 2005..CONCLUSION: VRS dilatation is common in diseases associated with microvascular abnormality and can be used as a diagnostic tool to differentiate vascular dementias from degenerative dementias...