Martin N Rossor

Summary

Affiliation: University College London
Country: UK

Publications

  1. pmc HECTD2, a candidate susceptibility gene for Alzheimer's disease on 10q
    Sarah E Lloyd
    MRC Prion Unit, Department of Neurodegenerative Disease, UCL Institute of Neurology, London, UK
    BMC Med Genet 10:90. 2009
  2. pmc The diagnosis of young-onset dementia
    Martin N Rossor
    Dementia Research Centre, Department of Neurodegeneration, UCL Institute of Neurology, Queen Square, London, UK
    Lancet Neurol 9:793-806. 2010
  3. 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
  4. pmc Distinct profiles of brain atrophy in frontotemporal lobar degeneration caused by progranulin and tau mutations
    Jonathan D Rohrer
    Dementia Research Centre, UCL Institute of Neurology, University College London, Queen Square, London, WC1N 3BG, UK
    Neuroimage 53:1070-6. 2010
  5. 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
  6. 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
  7. pmc Mapping the progression of progranulin-associated frontotemporal lobar degeneration
    Jonathan D Rohrer
    Dementia Research Centre, Institute of Neurology, University College London, London, UK
    Nat Clin Pract Neurol 4:455-60. 2008
  8. pmc Progressive logopenic/phonological aphasia: erosion of the language network
    Jonathan D Rohrer
    Dementia Research Centre, Institute of Neurology, University College London, Queen Square, London, UK
    Neuroimage 49:984-93. 2010
  9. ncbi request reprint Reduced cortical thickness in the posterior cingulate gyrus is characteristic of both typical and atypical Alzheimer's disease
    Manja Lehmann
    Dementia Research Centre, UCL Institute of Neurology, Queen Square, London, UK
    J Alzheimers Dis 20:587-98. 2010
  10. doi request reprint Cortical thickness and voxel-based morphometry in posterior cortical atrophy and typical Alzheimer's disease
    Manja Lehmann
    Dementia Research Centre, Institute of Neurology, University College London, Queen Square, London, WC1N 3BG, UK
    Neurobiol Aging 32:1466-76. 2011

Detail Information

Publications65

  1. pmc HECTD2, a candidate susceptibility gene for Alzheimer's disease on 10q
    Sarah E Lloyd
    MRC Prion Unit, Department of Neurodegenerative Disease, UCL Institute of Neurology, London, UK
    BMC Med Genet 10:90. 2009
    ..In this study we test whether the HECTD2 susceptibility allele seen in prion disease is also implicated in LOAD...
  2. pmc The diagnosis of young-onset dementia
    Martin N Rossor
    Dementia Research Centre, Department of Neurodegeneration, UCL Institute of Neurology, Queen Square, London, UK
    Lancet Neurol 9:793-806. 2010
    ..This understanding offers the potential for future treatments to be tailored to a specific diagnosis of both young-onset and late-onset dementia...
  3. 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)...
  4. pmc Distinct profiles of brain atrophy in frontotemporal lobar degeneration caused by progranulin and tau mutations
    Jonathan D Rohrer
    Dementia Research Centre, UCL Institute of Neurology, University College London, Queen Square, London, WC1N 3BG, UK
    Neuroimage 53:1070-6. 2010
    ..The findings suggest that the effects of GRN and MAPT mutations are expressed in partly overlapping but distinct anatomical networks that link specific molecular dysfunction with clinical phenotype...
  5. 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...
  6. 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
    ....
  7. pmc Mapping the progression of progranulin-associated frontotemporal lobar degeneration
    Jonathan D Rohrer
    Dementia Research Centre, Institute of Neurology, University College London, London, UK
    Nat Clin Pract Neurol 4:455-60. 2008
    ..The patient was initially asymptomatic but developed progressive behavioral and cognitive decline characterized by apathy, impaired emotion recognition, mixed aphasia and parietal lobe dysfunction...
  8. pmc Progressive logopenic/phonological aphasia: erosion of the language network
    Jonathan D Rohrer
    Dementia Research Centre, Institute of Neurology, University College London, Queen Square, London, UK
    Neuroimage 49:984-93. 2010
    ....
  9. ncbi request reprint Reduced cortical thickness in the posterior cingulate gyrus is characteristic of both typical and atypical Alzheimer's disease
    Manja Lehmann
    Dementia Research Centre, UCL Institute of Neurology, Queen Square, London, UK
    J Alzheimers Dis 20:587-98. 2010
    ..Reduced cortical thickness in the posterior cingulate gyrus is characteristic of AD pathology in patients with typical and atypical clinical presentations of AD, and may assist a clinical distinction of AD pathology from FTLD pathology...
  10. doi request reprint Cortical thickness and voxel-based morphometry in posterior cortical atrophy and typical Alzheimer's disease
    Manja Lehmann
    Dementia Research Centre, Institute of Neurology, University College London, Queen Square, London, WC1N 3BG, UK
    Neurobiol Aging 32:1466-76. 2011
    ..These distinct patterns of atrophy may have diagnostic utility. In a clinical context, a relatively spared medial temporal lobe in the presence of posterior parietal atrophy may imply PCA, and should not discount AD...
  11. ncbi request reprint Pure progressive amnesia and the APPV717G mutation
    William D Knight
    Department of Neurodegenerative Diseases, Dementia Research Centre, Institute of Neurology, University College London, UK
    Alzheimer Dis Assoc Disord 23:410-4. 2009
    ..The mean annual hippocampal atrophy rate, determined by volumetric magnetic resonance imaging was intermediate between values previously associated with cognitively normal individuals and those with sporadic Alzheimer disease...
  12. ncbi request reprint Volumetric MRI and cognitive measures in Alzheimer disease : comparison of markers of progression
    Basil H Ridha
    Dementia Research Centre, Institute of Neurology, University College London, 8 11 Queen Square, London, WC1N 3BG, UK
    J Neurol 255:567-74. 2008
    ..Both cognitive tests and MRI-based measures have been suggested as outcomes in trials assessing disease-modifying therapies in Alzheimer's disease (AD)...
  13. ncbi request reprint The clinical profile of right temporal lobe atrophy
    Dennis Chan
    Dementia Research Centre, Department of Clinical Neurology, Institute of Neurology, London, UK
    Brain 132:1287-98. 2009
    ....
  14. pmc Vascular and Alzheimer's disease markers independently predict brain atrophy rate in Alzheimer's Disease Neuroimaging Initiative controls
    Josephine Barnes
    Dementia Research Centre, Department of Neurodegenerative Disease, University College London Institute of Neurology, London, UK
    Neurobiol Aging 34:1996-2002. 2013
    ..There was no evidence of independent effects of WMH or CSF measures on BSI in AD. These data support findings that vascular damage is associated with increased brain atrophy in the context of AD pathology in pre-dementia stages...
  15. 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...
  16. doi request reprint Carbon-11-Pittsburgh compound B positron emission tomography imaging of amyloid deposition in presenilin 1 mutation carriers
    William D Knight
    Department of Neurodegeneration, UCL Institute of Neurology, University College London, Dementia Research Centre, Queen Square, London WC1N 3BG, UK
    Brain 134:293-300. 2011
    ..A few individuals with presenilin 1 mutations showed increased cerebellar (11)Carbon-Pittsburgh compound B retention suggesting that this region may not be as suitable a reference region in familial Alzheimer's disease...
  17. ncbi request reprint Atrophy rates of the cingulate gyrus and hippocampus in AD and FTLD
    Josephine Barnes
    Dementia Research Centre, University College London, Institute of Neurology, Queen Square, London, UK
    Neurobiol Aging 28:20-8. 2007
    ..Significantly better discrimination between AD and controls was obtained by hippocampal rather than cingulate rates. In conclusion, cingulate atrophy is as significant a feature of AD and FTLD as hippocampal atrophy...
  18. ncbi request reprint Automated measurement of hippocampal atrophy using fluid-registered serial MRI in AD and controls
    Josephine Barnes
    Dementia Research Centre, University College London, Institute of Neurology, Queen Square, London, UK
    J Comput Assist Tomogr 31:581-7. 2007
    ..To assess hippocampal atrophy rates calculated from fluid registration methods...
  19. doi request reprint Rates of hemispheric and lobar atrophy in the language variants of frontotemporal lobar degeneration
    Jonathan D Rohrer
    Dementia Research Centre, Institute of Neurology, University College London, Queen Square, London, UK
    J Alzheimers Dis 30:407-11. 2012
    ..These patterns provide information about disease evolution in the FTLD language variants that is of both clinical and neurobiological relevance...
  20. pmc Abnormal laughter-like vocalisations replacing speech in primary progressive aphasia
    Jonathan D Rohrer
    Dementia Research Centre, Department of Neurodegenerative Disease, Institute of Neurology, University College London, Queen Square, London, WC1N 3BG, UK
    J Neurol Sci 284:120-3. 2009
    ..Abnormal laughter-like vocalisations may be a hallmark of a subgroup in the PPA spectrum with impaired control and production of nonverbal vocal behaviour due to disruption of fronto-temporal networks mediating vocalisation...
  21. pmc Syndromes of nonfluent primary progressive aphasia: a clinical and neurolinguistic analysis
    Jonathan D Rohrer
    Dementia Research Centre, Institute of Neurology, Queen Square, London WC1N 3BG, UK
    Neurology 75:603-10. 2010
    ..Despite recent work, the nosology of nonfluent primary progressive aphasia (PPA) remains unresolved...
  22. 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
    ....
  23. ncbi request reprint Does Alzheimer's disease affect hippocampal asymmetry? Evidence from a cross-sectional and longitudinal volumetric MRI study
    Josephine Barnes
    Dementia Research Centre, Department of Clinical Neurology, Institute of Neurology, University College London, London, UK
    Dement Geriatr Cogn Disord 19:338-44. 2005
    ..To determine whether Alzheimer's disease (AD) is associated with preferential atrophy of either the left or right hippocampus...
  24. ncbi request reprint A volumetric magnetic resonance imaging study of the amygdala in frontotemporal lobar degeneration and Alzheimer's disease
    Jennifer L Whitwell
    Dementia Research Centre, Institute of Neurology, University College London, London, UK
    Dement Geriatr Cogn Disord 20:238-44. 2005
    ..Despite an overlap between clinical and radiological features of FTLD and AD, marked amygdala atrophy points towards a diagnosis of FTLD, with left greater than right atrophy suggestive of one of the language variants...
  25. pmc Delusions in frontotemporal lobar degeneration
    Rohani Omar
    Dementia Research Centre, Institute of Neurology, University College London, Queen Square, London, WC1N 3BG, UK
    J Neurol 256:600-7. 2009
    ..We conclude that delusions may be a clinical issue in FTLD, and this should be explored further in future work...
  26. ncbi request reprint Profiles of white matter tract pathology in frontotemporal dementia
    Colin J Mahoney
    Dementia Research Centre, UCL Institute of Neurology, University College London, London, United Kingdom
    Hum Brain Mapp 35:4163-79. 2014
    ..Hum Brain Mapp 35:4163-4179, 2014. © 2014 The Authors. Human Brain Mapping Published by Wiley Periodicals, Inc. ..
  27. pmc The pattern of atrophy in familial Alzheimer disease: volumetric MRI results from the DIAN study
    David M Cash
    From the Dementia Research Centre D M C, Y L, N S R, K M K, T Y, I B M, M N R, S O, N C F and Wellcome Trust Centre for Neuroimaging G R R, UCL Institute of Neurology, London, UK Washington University School of Medicine T L S B, N J C, D S M, C X, R J B, J C M, St Louis, MO Mayo Clinic C R J, Rochester, MN Imaging Genetics Center P M T, Laboratory of Neuroimaging, Department of Neurology and Psychiatry, UCLA School of Medicine, Los Angeles, CA Indiana University School of Medicine B F G, A J S, Indianapolis Mental Health Research Institute C L M, The University of Melbourne, Victoria, Australia Mary S Easton Center for Alzheimer s Disease J M R, UCLA Department of Neurology, Los Angeles, CA Butler Hospital S P S, Providence, RI Neuroscience Research Australia P R S, Sydney and the Center for Alzheimer Research and Treatment R A S, Japan
    Neurology 81:1425-33. 2013
    ..To assess regional patterns of gray and white matter atrophy in familial Alzheimer disease (FAD) mutation carriers...
  28. 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. ..
  29. pmc Posterior cortical atrophy
    Sebastian J Crutch
    Dementia Research Centre, Institute of Neurology, University College London, London, UK
    Lancet Neurol 11:170-8. 2012
    ..Greater awareness of the syndrome and agreement over the correspondence between syndrome-level and disease-level classifications are needed to improve diagnostic accuracy, clinical management, and the design of research studies...
  30. pmc Structural neuroanatomy of tinnitus and hyperacusis in semantic dementia
    Colin J Mahoney
    Dementia Research Centre, Institute of Neurology, University College London, London, UK
    J Neurol Neurosurg Psychiatry 82:1274-8. 2011
    ..Tinnitus and hyperacusis are common symptoms of excessive auditory perception in the general population; however, their anatomical substrates and disease associations continue to be defined...
  31. ncbi request reprint A novel technique for the quantitative assessment of apraxic deficits: application to individuals with mild cognitive impairment
    Sebastian J Crutch
    Department of Neurodegeneration, Institute of Neurology, Dementia Research Centre, University College, London, UK
    J Neuropsychol 1:237-57. 2007
    ..Consequently, this work contributes to the growing literature questioning the clinical usefulness of the concept of MCI and the appropriateness of current diagnostic criteria for distinguishing this condition from mild AD...
  32. ncbi request reprint Tracking atrophy progression in familial Alzheimer's disease: a serial MRI study
    Basil H Ridha
    Dementia Research Centre, University College London, Institute of Neurology, London, UK
    Lancet Neurol 5:828-34. 2006
    ..We used hierarchical modelling to assess how hippocampal and whole-brain volumes change as familial Alzheimer's disease progresses from the presymptomatic stage through to diagnosis...
  33. pmc Altered body schema processing in frontotemporal dementia with C9ORF72 mutations
    Laura E Downey
    Department of Neurodegenerative Disease, Dementia Research Centre, UCL Institute of Neurology, University College London, London, UK
    J Neurol Neurosurg Psychiatry 85:1016-23. 2014
    ..However, the pathophysiology of C9ORF72-FTD has not been elucidated...
  34. 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. ..
  35. pmc White matter tract signatures of the progressive aphasias
    Colin J Mahoney
    Dementia Research Centre, UCL Institute of Neurology, London, UK
    Neurobiol Aging 34:1687-99. 2013
    ..These WM signatures of PPA syndromes illustrate the selective vulnerability of brain language networks in these diseases and might have some pathologic specificity...
  36. doi request reprint A novel exon 2 I27V VCP variant is associated with dissimilar clinical syndromes
    Jonathan D Rohrer
    Dementia Research Centre, Institute of Neurology, Queen Square, London, WC1N 3BG, UK
    J Neurol 258:1494-6. 2011
    ..Together these cases suggest a potential for the same VCP mutation to produce distinct patterns of brain damage, underlining the clinical heterogeneity of VCP-associated disease...
  37. pmc FUS pathology defines the majority of tau- and TDP-43-negative frontotemporal lobar degeneration
    Hazel Urwin
    UCL Institute of Neurology, London, UK
    Acta Neuropathol 120:33-41. 2010
    ..We identified three FTLD-UPS cases, which are negative for CHMP2B mutation, suggesting that the full complement of FTLD pathologies is yet to be elucidated...
  38. ncbi request reprint Symptoms of memory loss as predictors of cognitive impairment?: the use and reliability of memory ratings in a clinic population
    Hilary A Archer
    Institute of Neurology, Dementia Research Centre, London School of Hygiene and Tropical Medicine, Keppel St, London, UK
    Alzheimer Dis Assoc Disord 21:101-6. 2007
    ..The relative importance of different aspects of the clinical history in predicting cognitive impairment is uncertain...
  39. ncbi request reprint VBM signatures of abnormal eating behaviours in frontotemporal lobar degeneration
    Jennifer L Whitwell
    Dementia Research Centre, Institute of Neurology, 8 11 Queen Square, London WC1N 3BG, UK
    Neuroimage 35:207-13. 2007
    ..In accord with emerging evidence in humans and other species, our findings implicate distinct components of a multi-component brain network in the control of specific aspects of eating behaviour...
  40. ncbi request reprint Voxel-based morphometry in tau-positive and tau-negative frontotemporal lobar degenerations
    Jennifer L Whitwell
    Dementia Research Centre, Institute of Neurology, London, UK
    Neurodegener Dis 1:225-30. 2004
    ..Correlations between regional patterns of tissue loss and specific proteinopathies have not been established...
  41. ncbi request reprint Presymptomatic generalized brain atrophy in frontotemporal dementia caused by CHMP2B mutation
    Jonathan D Rohrer
    Dementia Research Centre, Institute of Neurology, University College, London, UK
    Dement Geriatr Cogn Disord 27:182-6. 2009
    ..There are no detailed studies of brain imaging in CHMP2B mutation-associated FTD. This study aimed to investigate whether there were early or presymptomatic changes in this group of patients...
  42. pmc A distinct clinical, neuropsychological and radiological phenotype is associated with progranulin gene mutations in a large UK series
    Jonathan Beck
    MRC Prion Unit, Department of Neurodegenerative Disease, UCL Institute of Neurology, National Hospital for Neurology and Neurosurgery, Queen Square, London WC1N 3BG, UK
    Brain 131:706-20. 2008
    ..Finally, we confirmed a modifying effect of APOE-E4 genotype on clinical phenotype with a later onset in the GRN carriers suggesting that this gene has distinct phenotypic effects in different neurodegenerative diseases...
  43. pmc Alzheimer's pathology in primary progressive aphasia
    Jonathan D Rohrer
    Dementia Research Centre, Department of Neurodegenerative Disease, UCL Institute of Neurology, University College London, Queen Square, London, UK
    Neurobiol Aging 33:744-52. 2012
    ..We propose that LPA may be a "unihemispheric" presentation of AD, and discuss this concept in relation to accumulating evidence concerning language dysfunction in AD...
  44. doi request reprint Transportin1: a marker of FTLD-FUS
    Jack Brelstaff
    Queen Square Brain Bank for Neurological Disorders, Department of Molecular Neuroscience, UCL Institute of Neurology, University College London, UK
    Acta Neuropathol 122:591-600. 2011
    ..Our biochemical investigations demonstrate that urea-soluble TRN1 is present in aFTLD-U and NIFID, but not in normal control brains. These findings implicate abnormalities of FUS transport in the pathogenesis of FTLD-FUS...
  45. ncbi request reprint Quantitative magnetization transfer imaging in Alzheimer disease
    Basil H Ridha
    Dementia Research Centre, NMR Research Unit, and Department of Clinical and Experimental Epilepsy, Institute of Neurology, University College London, 8 11 Queen Square, London, WC1N 3BG, England
    Radiology 244:832-7. 2007
    ..To prospectively measure magnetization transfer (MT) parameters, along with established atrophy parameters, in patients with Alzheimer disease (AD) and in age- and sex-matched control subjects...
  46. pmc Neuroanatomical profiles of personality change in frontotemporal lobar degeneration
    Colin J Mahoney
    Dementia Research Centre, Institute of Neurology, London, UK
    Br J Psychiatry 198:365-72. 2011
    ..Frontotemporal lobar degeneration (FTLD) frequently presents with complex behavioural changes, and therefore potentially provides a disease model in which to investigate brain substrates of personality...
  47. pmc Word-finding difficulty: a clinical analysis of the progressive aphasias
    Jonathan D Rohrer
    Dementia Research Centre, Department of Neurodegenerative Disease, Institute of Neurology, University College London, Queen Square, London WC1N 3BG, UK
    Brain 131:8-38. 2008
    ....
  48. pmc Magnetic resonance imaging evidence for presymptomatic change in thalamus and caudate in familial Alzheimer's disease
    Natalie S Ryan
    Dementia Research Centre, Box 16 National Hospital for Neurology and Neurosugery, Queen Square, London WC1N 3BG, UK
    Brain 136:1399-414. 2013
    ..It may be owing to their dense connectivity that imaging changes are seen first in the thalamus and striatum, which then progress to involve other regions in a vulnerable neuronal network...
  49. pmc Receptive prosody in nonfluent primary progressive aphasias
    Jonathan D Rohrer
    Dementia Research Centre, Department of Neurodegenerative Disease, UCL Institute of Neurology, University College London, UK
    Cortex 48:308-16. 2012
    ..Prosody has been little studied in the primary progressive aphasias (PPAs), a group of neurodegenerative disorders presenting with progressive language impairment...
  50. pmc Apraxia in progressive nonfluent aphasia
    Jonathan Daniel Rohrer
    Dementia Research Centre, Department of Neurodegenerative Disease, UCL Institute of Neurology, University College London, Queen Square, London, WC1N 3BG, UK
    J Neurol 257:569-74. 2010
    ..Our findings show that apraxia of various kinds can be a clinical issue in PNFA and demonstrate that specific apraxias are clinically and anatomically dissociable within this population of patients...
  51. pmc Neologistic jargon aphasia and agraphia in primary progressive aphasia
    Jonathan D Rohrer
    Dementia Research Centre, Department of Neurodegenerative Disease, Institute of Neurology, University College London, UK
    J Neurol Sci 277:155-9. 2009
    ..Parietal lobe involvement is relatively unusual in PPA, perhaps accounting for the comparative rarity of jargon early in the course of these diseases...
  52. pmc A comparative clinical, pathological, biochemical and genetic study of fused in sarcoma proteinopathies
    Tammaryn Lashley
    Queen Square Brain Bank, Institute of Neurology, Queen Square, London WC1N 3BG, UK
    Brain 134:2548-64. 2011
    ..The co-existence of fused in sarcoma-positive inclusions in both motor neurons and extramotor cerebral structures is a characteristic finding in sporadic fused in sarcoma proteinopathies, indicating a multisystem disorder...
  53. pmc Patterns of longitudinal brain atrophy in the logopenic variant of primary progressive aphasia
    Jonathan D Rohrer
    Dementia Research Centre, Institute of Neurology, University College London, Queen Square, London WC1N 3BG, UK Electronic address
    Brain Lang 127:121-6. 2013
    ....
  54. 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. ..
  55. ncbi request reprint Amyloid load and cerebral atrophy in Alzheimer's disease: an 11C-PIB positron emission tomography study
    Hilary A Archer
    Institute of Neurology, Dementia Research Centre, National Hospital for Neurology and Neurosurgery, London, United Kingdom
    Ann Neurol 60:145-7. 2006
    ..Analysis revealed a positive correlation between rates of whole brain atrophy and whole brain (p = 0.019) and regional (11)C-PIB uptake. This provides support for the central role of amyloid deposition in the pathogenesis of AD...
  56. ncbi request reprint Differentiating AD from aging using semiautomated measurement of hippocampal atrophy rates
    Josephine Barnes
    Dementia Research Centre, Institute of Neurology, University College London, 8 11 Queen Square, WCIN 3BG, London, UK
    Neuroimage 23:574-81. 2004
    ..We conclude that HBSI-derived atrophy rates reduce operator time and error, and are at least as effective as the manual equivalent as a diagnostic marker and are a potential marker of progression in longitudinal studies and trials...
  57. pmc Novel L284R MAPT mutation in a family with an autosomal dominant progressive supranuclear palsy syndrome
    Jonathan D Rohrer
    Dementia Research Centre, Department of Neurodegenerative Disease, UCL Institute of Neurology, University College London, London, UK
    Neurodegener Dis 8:149-52. 2011
    ..In a number of these cases the dominant clinical features have been consistent with a progressive supranuclear palsy (PSP) syndrome...
  58. ncbi request reprint Huntington's disease phenocopies are clinically and genetically heterogeneous
    Edward J Wild
    Department of Neurodegenerative Disease, UCL Institute of Neurology National Hospital for Neurology and Neurosurgery, Queen Square, London, United Kingdom
    Mov Disord 23:716-20. 2008
    ..When undertaken, it should be clinically directed and patients and clinicians should be prepared for the low probability of reaching a genetic diagnosis in this group of patients...
  59. doi request reprint Does registration of serial MRI improve diagnosis of dementia?
    Josephine Barnes
    Dementia Research Centre, UCL Institute of Neurology, London, UK
    Neuroradiology 52:987-95. 2010
    ..We aimed to assess the value of a second MR scan in the radiological diagnosis of dementia...
  60. pmc Correlating familial Alzheimer's disease gene mutations with clinical phenotype
    Natalie S Ryan
    Dementia Research Centre, Department of Neurodegenerative Diseases, University College London, Institute of Neurology, London, UK
    Biomark Med 4:99-112. 2010
    ..Exploring the genetic and pathological basis of this phenotypic heterogeneity can illuminate aspects of the underlying disease mechanism, and is likely to inform our understanding and treatment of AD in the future...
  61. 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...
  62. pmc Defining and describing the pre-dementia stages of familial Alzheimer's disease
    Natalie S Ryan
    Dementia Research Centre, Department of Neurodegenerative Diseases, Box 16, National Hospital for Neurology and Neurosurgery, UCL Institute of Neurology, Queen Square, London WC1N 3BG, UK
    Alzheimers Res Ther 3:29. 2011
    ..Furthermore, the study highlights some of the challenges of defining pre-dementia clinical stages in familial Alzheimer's disease and the need for the field to develop a consistent terminology...
  63. ncbi request reprint The quantitative assessment of apraxic deficits in Alzheimer's disease
    Sebastian J Crutch
    Dementia Research Centre, Department of Neurodegeneration, Institute of Neurology, University College, London, UK
    Cortex 43:976-86. 2007
    ....
  64. ncbi request reprint Longitudinal patterns of regional change on volumetric MRI in frontotemporal lobar degeneration
    Jennifer L Whitwell
    Dementia Research Group, Institute of Neurology, University College London and Imperial College London, London, UK
    Dement Geriatr Cogn Disord 17:307-10. 2004
    ..The different FTLD syndromes displayed different patterns of change. This technique gives an insight into disease evolution over time in these disorders and may be useful as a method of tracking change in clinical trials...
  65. ncbi request reprint Observations on the human rejection behaviour syndrome: Denny-Brown revisited
    Jason D Warren
    Dementia Research Group, Institute of Neurology, Queen Square, London, United Kingdom
    Mov Disord 19:860-2. 2004
    ..Here, we describe a patient with rejection behaviour in the setting of progressive cognitive decline accompanied by cortical myoclonus...