Research Topics
Genomes and Genes
| Tamas ReveszSummaryAffiliation: University College London Country: UK Publications
| Collaborators
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Detail Information
Publications
Rosai-Dorfman disease presenting with widespread intracranial and spinal cord involvementDesmond P Kidd
Department of Clinical Neurosciences, Royal Free Hospital, London, UK
Neurology 67:1551-5. 2006..Using data from two cases, we present the clinical manifestations, pathology, and treatment, and review the literature regarding the ocular and neurologic manifestations. Finally, we discuss the optimum management of this disorder...- Sporadic and familial cerebral amyloid angiopathiesTamas Revesz
Queen Square Brain Bank, Department of Molecular Pathogenesis, University College London, UK
Brain Pathol 12:343-57. 2002..We also discuss data relevant to the pathomechanism of the different forms of CAA with an emphasis on the most common A beta-related types... - Cytoskeletal pathology in familial cerebral amyloid angiopathy (British type) with non-neuritic amyloid plaque formationT Revesz
Department of Neuropathology, Institute of Neurology, London, UK
Acta Neuropathol 97:170-6. 1999..In FAB severe cytoskeletal pathology is present in areas most affected by amyloid plaque deposits, thus suggesting a localised neurotoxic effect of the poorly characterised amyloidogenic peptide characteristic of this condition... 
Genetics and molecular pathogenesis of sporadic and hereditary cerebral amyloid angiopathiesTamas Revesz
Queen Square Brain Bank for Neurological Disorders, Department of Molecular Neuroscience, UCL Institute of Neurology, University College London, Queen Square, London WC1N3BG, UK
Acta Neuropathol 118:115-30. 2009..In this review, the characteristic morphological features of the different CAAs is described and the implication of the biochemical, genetic and transgenic animal data for the pathogenesis of CAA is discussed...- Cerebral amyloid angiopathies: a pathologic, biochemical, and genetic viewTamas Revesz
Queen Square Brain Bank, Department of Molecular Neuroscience and Division of Neuropathology, Institute of Neurology, University College London, London, United Kingdom
J Neuropathol Exp Neurol 62:885-98. 2003..This review addresses issues related to the correlation between morphology, biochemistry, and genetics, and briefly discusses both the pathogenesis and animal models of CAAs... - Anatamopathological spectrum of tauopathiesTamas Revesz
Queen Square Brain Bank, Department of Molecular Neuroscience, Institute of Neurology, University College London, London, United Kingdom
Mov Disord 18:S13-20. 2003.... - Parietal lobe deficits in frontotemporal lobar degeneration caused by a mutation in the progranulin geneJonathan 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)... 
Concomitant progressive supranuclear palsy and multiple system atrophy: more than a simple twist of fate?Laura Silveira-Moriyama
Reta Lila Weston Institute for Neurological Studies, UCL Institute of Neurology, London, UK
Neurosci Lett 467:208-11. 2009..The growing number of collective case reports, including the one reported here, might suggest an increased prevalence of concomitant PSP and MSA than what would be expected by chance...- A distinct clinical, neuropsychological and radiological phenotype is associated with progranulin gene mutations in a large UK seriesJonathan 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... - Pathological tau burden and distribution distinguishes progressive supranuclear palsy-parkinsonism from Richardson's syndromeDavid R Williams
Queen Square Brain Bank for Neurological Disorders, London, UK
Brain 130:1566-76. 2007..The grading system we have developed provides an easy-to-use and sensitive tool for the morphological assessment of PSP-tau pathology and allows for consideration of the clinical diversity that is known to occur in PSP... - Multiple system atrophy-parkinsonism with slow progression and prolonged survival: a diagnostic catchIgor N Petrovic
National Hospital for Neurology and Neurosurgery, Queen Square, and the Reta Lila Weston Institute of Neurological Studies, UCL Institute of Neurology, London, United Kingdom
Mov Disord 27:1186-90. 2012..Multiple system atrophy (MSA) is a neurodegenerative disease leading to severe physical impairment, with a disease duration from onset to death of 6-9 years... - Frontotemporal dementia with the C9ORF72 hexanucleotide repeat expansion: clinical, neuroanatomical and neuropathological featuresColin J Mahoney
Dementia Research Centre, Department of Neurodegenerative Diseases, UCL Institute of Neurology, London WC1N 3BG, UK
Brain 135:736-50. 2012.... - Lewy- and Alzheimer-type pathologies in Parkinson's disease dementia: which is more important?Yaroslau Compta
Queen Square Brain Bank for Neurological Disorders, UCL Institute of Neurology, Queen Square, London WC1N 3BG, UK
Brain 134:1493-505. 2011..Cortical amyloid-β and age at disease onset seem to determine the rate to dementia... - NR4A2 genetic variation in sporadic Parkinson's disease: a genewide approachDaniel G Healy
Department of Molecular Neuroscience, Institute of Neurology, London, United Kingdom
Mov Disord 21:1960-3. 2006..Here, we use a haplotype-tagging approach in 802 PD patients and 784 controls and demonstrate that common genetic variation, including NR4A2 haplotypes, does not influence the risk of PD in the Caucasian population... - Glucocerebrosidase mutations do not cause increased Lewy body pathology in Parkinson's diseaseLaura 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... - Widespread Lewy body and tau accumulation in childhood and adult onset dystonia-parkinsonism cases with PLA2G6 mutationsCoro 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... - Hyposmia in progressive supranuclear palsyLaura Silveira-Moriyama
Reta Lila Weston Institute of Neurological Studies, UCL Institute of Neurology, London, United Kingdom
Mov Disord 25:570-7. 2010..Further prospective studies including patients with early PSP and PSP-P with postmortem confirmation might help clarify if smell tests could be useful when the differential diagnosis lies between PD and PSP... - The MAPT p.A152T variant is a risk factor associated with tauopathies with atypical clinical and neuropathological featuresEleanna 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... - Transportin1: a marker of FTLD-FUSJack 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... - DJ-1 (PARK7) is associated with 3R and 4R tau neuronal and glial inclusions in neurodegenerative disordersRavindran Kumaran
Reta Lila Weston Institute of Neurological Studies, Institute of Neurology, 1, Wakefield Street, WC1N 1PJ, UK
Neurobiol Dis 28:122-32. 2007..Our observations confirm previous findings that DJ-1 is present in a subpopulation of glial and neuronal tau inclusions in tau diseases and associated with both 3R and 4R tau isoforms... - Cortical alpha-synuclein load is associated with amyloid-beta plaque burden in a subset of Parkinson's disease patientsTammaryn Lashley
Queen Square Brain Bank for Neurological Disorders, Department of Molecular Neuroscience, UCL Institute of Neurology, University College London, Queen Square, London WC1N 3BG, UK
Acta Neuropathol 115:417-25. 2008.... - UCHL-1 is not a Parkinson's disease susceptibility geneDaniel G Healy
Department of Molecular Neuroscience, Institute of Neurology, University College London, London, United Kingdom
Ann Neurol 59:627-33. 2006..The strongest evidence comes from a meta-analysis of small studies that reported the S18Y polymorphism as protective against PD, after pooling studies of white and Asian subjects. Here, we present data that challenge this association... - A comparative clinical, pathological, biochemical and genetic study of fused in sarcoma proteinopathiesTammaryn 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... - Familial Danish dementia: a novel form of cerebral amyloidosis associated with deposition of both amyloid-Dan and amyloid-betaJanice L Holton
Department of Molecular Pathogenesis, Queen Square Brain Bank, London, United Kingdom
J Neuropathol Exp Neurol 61:254-67. 2002..The significance of concurrent ADan and Abeta deposition in FDD is under further investigation... - Voxel-based morphometry in tau-positive and tau-negative frontotemporal lobar degenerationsJennifer L Whitwell
Dementia Research Centre, Institute of Neurology, London, UK
Neurodegener Dis 1:225-30. 2004.... - Mutations in the gene LRRK2 encoding dardarin (PARK8) cause familial Parkinson's disease: clinical, pathological, olfactory and functional imaging and genetic dataNaheed L Khan
Department of Molecular Neuroscience, Institute of Neurology, London, UK
Brain 128:2786-96. 2005.... - Relationships between age and late progression of Parkinson's disease: a clinico-pathological studyPeter A Kempster
Reta Lila Weston Institute of Neurological Studies, University College London, 1 Wakefield Street, London WC1N 1PJ, UK
Brain 133:1755-62. 2010..The chief effects of age on the rate of progression are seen over the early-middle part of the disease. An exponential curve for clinical progression provides the best explanation for these observations about age and the disease course... - Parkinson's diseaseAndrew 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... - Clinical and neuroanatomical signatures of tissue pathology in frontotemporal lobar degenerationJonathan D Rohrer
Dementia Research Centre, UCL Institute of Neurology, Queen Square, London WC1N 3BG, UK
Brain 134:2565-81. 2011.... - Regional differences in the severity of Lewy body pathology across the olfactory cortexLaura Silveira-Moriyama
Reta Lila Weston Institute for Neurological Studies, UCL Institute of Neurology, London, UK
Neurosci Lett 453:77-80. 2009.... - Conventional magnetic resonance imaging in confirmed progressive supranuclear palsy and multiple system atrophyLuke A Massey
Sara Koe PSP Research Centre, UCL Institute of Neurology, University College London, London, United Kingdom
Mov Disord 27:1754-62. 2012..However, the low sensitivity of these and macroscopic findings at autopsy suggest a need for imaging techniques sensitive to microstructural abnormalities without regional atrophy... - FUS pathology defines the majority of tau- and TDP-43-negative frontotemporal lobar degenerationHazel 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... - Does corticobasal degeneration exist? A clinicopathological re-evaluationHelen Ling
Reta Lila Weston Institute of Neurological Studies, Institute of Neurology, University College London, 1 Wakefield Street, London WC1N 1PJ, UK
Brain 133:2045-57. 2010..Despite these diagnostic difficulties we conclude that corticobasal degeneration is a discrete clinicopathological entity but with a broader clinical spectrum than was originally proposed... - Testing an aetiological model of visual hallucinations in Parkinson's diseaseDavid A Gallagher
Institute of Neurology, University College London, UK
Brain 134:3299-309. 2011..These clinical data are supported by the pathological study, in which higher overall cortical Lewy body counts, and in particular areas implicated in visuoperception and executive function, were associated with visual hallucinations... - Characteristics of two distinct clinical phenotypes in pathologically proven progressive supranuclear palsy: Richardson's syndrome and PSP-parkinsonismDavid R Williams
The Queen Square Brain Bank for Neurological Disorders, University College London, UK
Brain 128:1247-58. 2005..The different tau isoform deposition in the basal pons suggests that this may ultimately prove to be a discrete nosological entity... - Magnetic resonance imaging signatures of tissue pathology in frontotemporal dementiaJennifer L Whitwell
Dementia Research Centre, Institute of Neurology, University College London, England
Arch Neurol 62:1402-8. 2005..The VBM findings were supported by blinded visual assessment. CONCLUSION: These findings suggest that MRI patterns of regional gray matter atrophy constitute signatures of tissue pathology in FTD... - MM2 subtype of sporadic Creutzfeldt-Jakob disease may underlie the clinical presentation of progressive supranuclear palsyIgor N Petrovic
Reta Lila Weston Institute of Neurological Studies, UCL Institute of Neurology, 1 Wakefield St, London, WC1N 1PJ, UK
J Neurol 260:1031-6. 2013..This case and the literature support the notion that biochemical properties of the prion protein can influence the clinical presentation of sCJD... - Globular glial tauopathies (GGT) presenting with motor neuron disease or frontotemporal dementia: an emerging group of 4-repeat tauopathiesZeshan Ahmed
Queen Square Brain Bank for Neurological Disorders, Department of Molecular Neuroscience, UCL Institute of Neurology, 1 Wakefield Street, London, WC1N 1PJ, UK
Acta Neuropathol 122:415-28. 2011..We, therefore, propose the term globular glial tauopathy as an encompassing term to classify this emerging class of 4R tauopathy... - Tau acts as an independent genetic risk factor in pathologically proven PDGavin 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... - Genetic variability at the PARK16 locusArianna Tucci
Department of Molecular Neuroscience and Reta Lila Weston Institute, UCL Institute of Neurology, London, UK
Eur J Hum Genet 18:1356-9. 2010.... - The genetics of Parkinson's syndromes: a critical reviewJohn 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.... - Neuronal intranuclear inclusion disease: report on a case originally diagnosed as dopa-responsive dystonia with Lewy bodiesDominic C Paviour
The Sara Koe Progressive Supranuclear Palsy Research Centre, Institute of Neurology, University College London, London, United Kingdom
Mov Disord 20:1345-9. 2005..This rare condition, which may be diagnosed in life with a full thickness rectal biopsy, needs to be considered in the differential diagnosis of any case presenting as progressive juvenile parkinsonism (JP) or dystonia... - Glucocerebrosidase mutations in clinical and pathologically proven Parkinson's diseaseJuliane Neumann
Department of Molecular Neuroscience, Institute of Neurology, University College London, London, UK
Brain 132:1783-94. 2009.... - The effect of drug treatment on neurogenesis in Parkinson's diseaseSean S O'Sullivan
Reta Lila Weston Institute of Neurological Studies, University College London, London, United Kingdom
Mov Disord 26:45-50. 2011..Our findings suggest a positive impact of chronic L-dopa use on the number of NSC in the SVZ of PD patients, which may have relevance for future studies on neuroprotection in neurodegenerative diseases... - Impulsive-compulsive spectrum behaviors in pathologically confirmed progressive supranuclear palsySean S O'Sullivan
Reta Lila Weston Institute of Neurological Studies, Institute of Neurology, University College London, London, United Kingdom
Mov Disord 25:638-42. 2010..Pathological comparisons between these three cases and other case series of progressive supranuclear palsy are made... - Duplication of amyloid precursor protein (APP), but not prion protein (PRNP) gene is a significant cause of early onset dementia in a large UK seriesDaniel 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... - Altered cleavage and localization of PINK1 to aggresomes in the presence of proteasomal stressMiratul M K Muqit
Department of Molecular Neuroscience, Institute of Neurology, University College London, London, UK
J Neurochem 98:156-69. 2006..These observations provide valuable insights into the mechanisms of LB formation in PD that should lead to a better understanding of PD pathogenesis... - Genetic variation at the tau locus and clinical syndromes associated with progressive supranuclear palsyDavid R Williams
The Queen Square Brain Bank for Neurological Disorders, Institute of Neurology, Queen Square, London, United Kingdom
Mov Disord 22:895-7. 2007..No mutations were found in 75 patients (21 PSP-P), and H1c was associated with both Richardson's syndrome and PSP-P compared with controls. Routine screening for MAPT mutations in atypical PSP is not recommended... - Sporadic and familial dementia with ubiquitin-positive tau-negative inclusions: clinical features of one histopathological abnormality underlying frontotemporal lobar degenerationAlison K Godbolt
Dementia Research Centre, Institute of Neurology, University College London, England
Arch Neurol 62:1097-101. 2005..CONCLUSIONS: Behavioral features in familial and sporadic cases were similar, but semantic dementia only occurred in sporadic cases. Diagnostic confusion with Alzheimer disease and corticobasal degeneration occurred in some cases... - UCHL-1 gene in multiple system atrophy: a haplotype tagging approachDaniel G Healy
Department of Molecular Neuroscience, Institute of Neurology, Queen Square, London United Kingdom
Mov Disord 20:1338-43. 2005..This search included the S18Y variant of UCHL-1, which has been reported to be protective in Parkinson's disease... - Tau exon 10 +16 mutation FTDP-17 presenting clinically as sporadic young onset PSPH R Morris
National Hospital for Neurology and Neurosurgery, Queen Square, London, UK
Neurology 61:102-4. 2003..An age at onset younger than 50 years combined with the absence of early falls may indicate the possibility of a tau mutation in clinically diagnosed PSP... - Adult-onset neurodegeneration with brain iron accumulation and cortical alpha-synuclein and tau pathology: a distinct clinicopathological entityGeorge K Tofaris
Department of Clinical Neurology, National Hospital for Neurology and Neurosurgery, Institute of Child Health and Great Ormond Street Hospital, London, England, UK
Arch Neurol 64:280-2. 2007..Familial cases with mutations in the pantothenate kinase gene are associated with a specific phenotype. In contrast, sporadic cases are heterogeneous in their clinical presentation... - Mutations in TTBK2, encoding a kinase implicated in tau phosphorylation, segregate with spinocerebellar ataxia type 11Henry Houlden
Department of Molecular Neuroscience, Institute of Neurology and The National Hospital for Neurology and Neurosurgery, Queen Square, London WC1N 3BG, UK
Nat Genet 39:1434-6. 2007..Affected brain tissue showed substantial cerebellar degeneration and tau deposition. These data suggest that TTBK2 is important in the tau cascade and in spinocerebellar degeneration... - Down-regulation of the dopamine receptor D2 in mice lacking ataxin 1Robert Goold
UCL Institute of Child Health, University College London, UK
Hum Mol Genet 16:2122-34. 2007..Therefore, this study identifies novel molecular targets that are regulated by Atxn1 which might contribute to the motor deficits in SCA1, and provides new insights into the mechanisms by which Atxn1 co-regulates transcription... - Mixed glioneuronal tumour of the fourth ventricle with prominent rosette formationT S Jacques
Division of Neuropathology, The National Hospital for Neurology and Neurosurgery, Queen Square, London, UK
Neuropathol Appl Neurobiol 32:217-20. 2006..However, the clinical data available including the cases presented here, along with the histological features, suggest that these are low grade tumours with a good prognosis after surgical resection... - Primary diffuse leptomeningeal gliomatosis simulating tuberculous meningitisJ H Rees
University Department of Clinical Neurology, Institute of Neurology, Queen Square, London WC1N 3BG, UK
J Neurol Neurosurg Psychiatry 70:120-2. 2001..These cases emphasise the need for repeated reassessment in patients with culture negative lymphocytic meningitis. In addition, this is the first report of FDG-PET scanning in leptomeningeal gliomatosis... - Neuropathology of primary adult-onset dystoniaJ L Holton
Queen Square Brain Bank, Department of Molecular Neuroscience, University College London Institute of Neurology, Queen Square, London WC1N 3BG, UK
Neurology 70:695-9. 2008..However, it was unclear whether these changes are characteristic of these particular disorders or an epiphenomenon of dystonic conditions in general... - A multidisciplinary team approach to skull base chordomasH A Crockard
Department of Surgical Neurology, The National Hospital for Neurology and Neurosurgery, London, United Kingdom
J Neurosurg 95:175-83. 2001..A multidisciplinary team devised a protocol for long-term care of patients with skull base chordomas. In this study they describe their approach... - Pathological substrate for regional distribution of increased atrophy rates in progressive supranuclear palsyD C Paviour
The Sara Koe PSP Research Centre, Institute of Neurology UCL, London, UK
J Neurol Neurosurg Psychiatry 75:1772-5. 2004..MRI features described previously in PSP correspond to regions of pathological involvement demonstrated in separate studies, but serial MRI with pathological follow up has not been undertaken... - A multidisciplinary team approach to skull base chondrosarcomasH A Crockard
Department of Surgical Neurology, The National Hospital for Neurology and Neurosurgery, London, United Kingdom
J Neurosurg 95:184-9. 2001..The authors review their experience with treating skull base chondrosarcomas, which are much rarer than skull base chordomas and differ from them in prognosis and treatment... - Brain biopsy in dementiaJ D Warren
Dementia Research Centre, Institute of Neurology, London, UK
Brain 128:2016-25. 2005.... - Expression of BRI2 mRNA and protein in normal human brain and familial British dementia: its relevance to the pathogenesis of diseaseT Lashley
Queen Square Brain Bank, Department of Molecular Neuroscience, UCL Institute of Neurology, University College London, London, UK
Neuropathol Appl Neurobiol 34:492-505. 2008.... - Pathological inclusion bodies in tauopathies contain distinct complements of tau with three or four microtubule-binding repeat domains as demonstrated by new specific monoclonal antibodiesR De Silva
Reta Lila Weston Institute of Neurological Studies, University College London, and Department of Molecular Neuroscience and Neuropathology, Institute of Neurology, UK
Neuropathol Appl Neurobiol 29:288-302. 2003..These new isoform-specific antibodies are useful tools for analysing tau isoform expression and distribution as well as pathological changes in the human brain... - Hippocampal layers on high resolution magnetic resonance images: real or imaginary?U C Wieshmann
NSE Epilepsy Research MRI Unit, Chalfont St Peter, Bucks, UK
J Anat 195:131-5. 1999..469 x 0.469 x 2 mm or lower) is not sufficient for the detection of all hippocampal layers. For the reliable detection of all hippocampal layers on MR images an increase by a factor of approximately 20 would be necessary... - Frontotemporal lobar degeneration with ubiquitin-only-immunoreactive neuronal changes: broadening the clinical picture to include progressive supranuclear palsyD C Paviour
The Sara Koe PSP Research Centre, Institute of Neurology, London, UK
Brain 127:2441-51. 2004..FTLD-U or FTLD-MND should be considered in the differential diagnosis of progressive frontal dementia with an akinetic rigid syndrome and supranuclear gaze palsy or Steele-Richardson-Olszewski disease... - Neuropathological findings in benign tremulous parkinsonismMarianna Selikhova
Queen Square Brain Bank for Neurological Disorders and Institute of Neurology, University College London, London, United Kingdom
Mov Disord 28:145-52. 2013.... - Targeting of the pedunculopontine nucleus by an MRI-guided approach: a cadaver studyLudvic Zrinzo
Unit of Functional Neurosurgery, Box 146, Institute of Neurology and National Hospital for Neurology and Neurosurgery, Queen Square, London, WC1N 3BG, UK
J Neural Transm 118:1487-95. 2011..The results support the accuracy of the described specific MR imaging protocol... - An immunohistochemical study of cases of sporadic and inherited frontotemporal lobar degeneration using 3R- and 4R-specific tau monoclonal antibodiesRohan de Silva
Reta Lila Weston Institute of Neurological Studies, University College London, Windeyer Building, 46 Cleveland St, W1T 4JF, London, UK
Acta Neuropathol (Berl) 111:329-40. 2006..The use of such tau isoform specific antibodies may refine pathological criteria underpinning FTLD... - The spectrum of pathological involvement of the striatonigral and olivopontocerebellar systems in multiple system atrophy: clinicopathological correlationsTetsutaro Ozawa
Queen Square Brain Bank, Department of Molecular Neuroscience, Institute of Neurology, Queen Square, UCL, London, UK
Brain 127:2657-71. 2004.... - Clinicopathological investigation of vascular parkinsonism, including clinical criteria for diagnosisJan C M Zijlmans
Queen Square Brain Bank for Neurological Disorders, Institute of Neurology Queen Square, London, United Kingdom
Mov Disord 19:630-40. 2004..New clinical criteria for a diagnosis of VP are proposed based on the clinicopathological findings of this study... - The genetic and pathological classification of familial frontotemporal dementiaH R Morris
Neurogenetics Section, Institute of Neurology, University College London, England
Arch Neurol 58:1813-6. 2001..Furthermore, these data suggest that there are at least 2 additional genes to be identified among families with autosomal dominant FTD... - Diagnostic implications of histological analysis of neurosurgical aspirate in addition to routine resectionsGelareh Zadeh
Division of Neurosurgery, Toronto Western Hospital, University of Toronto, Toronto, Ontario, Canada
Neuropathology 32:44-50. 2012..Collection of surgical aspirate also generates additional archival material which can be microdissected and used for tissue microarrays or for molecular studies... - Influence of target size on vertical gaze palsy in a pathologically proven case of progressive supranuclear palsyBarry M Seemungal
The Academic Department of Neuro-Otology, Division of Neurosciences and Psychological Medicine, Imperial College Faculty of Medicine, Charing Cross Hospital, London, United Kingdom
Mov Disord 18:818-22. 2003.... - Somatic and germline mosaicism in sporadic early-onset Alzheimer's diseaseJonathan A Beck
MRC Prion Unit and Department of Neurodegenerative Disease, Institute of Neurology UCL, Queen Square, London, UK
Hum Mol Genet 13:1219-24. 2004..This finding has important implications for the aetiology of sporadic AD, and for other apparently sporadic neurodegenerative diseases such as Parkinson's disease, motor neuron disease and Creutzfeldt-Jakob disease... - Neuropathologic variation in frontotemporal dementia due to the intronic tau 10(+16) mutationP L Lantos
Department of Neuropathology, Institute of Psychiatry, King s College London, UK
Neurology 58:1169-75. 2002..An increasing number of recently described tau mutations show considerable clinical heterogeneity. The assessment of this phenotypic variation is of vital importance in the differential diagnosis of neurodegenerative diseases... - Sequence analysis of tau in familial and sporadic progressive supranuclear palsyH R Morris
University Department of Clinical Neurology, Institute of Neurology, Queen Square, London WC1NBG, UK
J Neurol Neurosurg Psychiatry 72:388-90. 2002..This suggests that usually FTDP-17 and PSP, including the rare familial form of PSP, are likely to be separate conditions and that usually PSP and typical PSP-like syndromes are not due to mutations in tau... - Molecular chaperons, amyloid and preamyloid lesions in the BRI2 gene-related dementias: a morphological studyT Lashley
Queen Square Brain Bank, Department of Molecular Neuroscience, Institute of Neurology, University College London, London, UK
Neuropathol Appl Neurobiol 32:492-504. 2006..The presence of AAPs in the preamyloid lesions supports the notion that chaperon molecules may play a role in the early steps of fibrillogenesis... - Hippocampal, but not parahippocampal, damage in a case of dense retrograde amnesia: a pathological studyDennis Chan
Dementia Research Group, Department of Clinical Neurology, Institute of Neurology, The National Hospital for Neurology and Neurosurgery, Queen Square, London WC1N 3BG, UK
Neurosci Lett 329:61-4. 2002..T. is therefore not consistent with the postulated role of the hippocampus as a temporary memory store and suggests instead that the hippocampus is involved in the storage of remote memories as well as recent memories... - The phagocytic capacity of neuronesSamantha Bowen
Neuroscience Centre and Pathology Group, Queen Mary s School of Medicine and Dentistry, Institute of Pathology, Royal London Hospital, London, UK
Eur J Neurosci 25:2947-55. 2007.... - A common LRRK2 mutation in idiopathic Parkinson's diseaseWilliam P Gilks
Department of Molecular Neuroscience, Institute of Neurology and National Hospital for Neurology and Neurosurgery, Queen Square, London WC1N 3BG, UK
Lancet 365:415-6. 2005..We suggest that testing for this mutation will be important in the management and genetic counselling of patients with Parkinson's disease... - Cervical spine chordoid meningioma. Case reportAhmed Ibrahim
Victor Horsley Departments of Neurosurgery and Neuropathology, The National Hospital for Neurology and Neurosurgery, London, United Kingdom
J Neurosurg Spine 2:195-8. 2005..The authors describe a rare case of chordoid meningioma in the cervical spinal region... - The heritability and genetics of frontotemporal lobar degenerationJ D Rohrer
Dementia Research Centre, Institute of Neurology, Queen Square, London WC1N 3BG, UK
Neurology 73:1451-6. 2009..Frontotemporal lobar degeneration (FTLD) is a genetically and pathologically heterogeneous neurodegenerative disorder... - Clinical features of frontotemporal dementia due to the intronic tau 10(+16) mutationJ C Janssen
Dementia Research Group, Institute of Neurology, London, UK
Neurology 58:1161-8. 2002..To describe the clinical features of nine British families with neuropathologically verified frontotemporal dementia (FTD) due to the intronic tau exon 10(+16) mutation... - Pathological, clinical and genetic heterogeneity in progressive supranuclear palsyH R Morris
Department of Molecular Pathogenesis, Institute of Neurology, Queen Square, London, UK
Brain 125:969-75. 2002.... - Clinical outcomes of progressive supranuclear palsy and multiple system atrophyS S O'Sullivan
Reta Lila Weston Institute of Neurological Studies, University College London, London, UK
Brain 131:1362-72. 2008..The time to the first clinical milestone is a useful prognostic predictor for survival. We confirm that RS had a less favourable course than PSP-P, and that early autonomic failure in MSA is associated with shorter survival... - Knight's move thinking? Mild cognitive impairment in a chess playerH A Archer
The Dementia Research Centre, The National Hospital for Neurology and Neurosurgery, London, UK
Neurocase 11:26-31. 2005.... - Analysis of tau haplotypes in Pick's diseaseH R Morris
Neurogenetics, Institute of Neurology, Reta Lila Weston Institute of Neurological Research, University College London, UK
Neurology 59:443-5. 2002..There was no difference between the tau H2 haplotype or H2H2 genotype frequency in PiD cases and control subjects. No tau mutations were identified in pathologically typical cases of PiD, with antibody 12-E8-negative Pick bodies... - A clinico-pathological study of subtypes in Parkinson's diseaseM Selikhova
Queen Square Brain Bank for Neurological Disorders and Institute of Neurology, University College, London, UK
Brain 132:2947-57. 2009..Although neuropathological examination failed to distinguish the other subtypes, the classification scheme was supported by an analysis of clinical data that were independent of the basic subgroup definitions... - PINK1 protein in normal human brain and Parkinson's diseaseS Gandhi
Department of Molecular Neuroscience, Institute of Neurology University College London, London, UK
Brain 129:1720-31. 2006.... - Osteosarcoma and fibrosarcoma caused by postoperative radiotherapy for a pituitary adenoma. Case reportKanna K Gnanalingham
Department of Neurosurgery, National Hospital for Neurology and Neurosurgery, London, United Kingdom
J Neurosurg 96:960-3. 2002..The authors report on what they believe to be the first case in which fibrosarcoma and, later, osteosarcoma developed during a 14-year period following surgery and radiotherapy for a nonsecreting pituitary macroadenoma... - Brain biopsy in dementia: clinical indications and diagnostic approachJonathan M Schott
Dementia Research Centre, The National Hospital for Neurology and Neurosurgery, London WC1N 3BG, UK
Acta Neuropathol 120:327-41. 2010..We propose algorithms to aid the clinician in selecting appropriate patients for a biopsy and the neuropathologist in assessing a biopsy specimen... - Microarray analysis of pediatric ependymoma identifies a cluster of 112 candidate genes including four transcripts at 22q12.1-q13.3Blanca Suarez-Merino
Department of Molecular Neuroscience, Institute of Neurology, National Hospital for Neurology and Neurosurgery, University College London, London, UK
Neuro Oncol 7:20-31. 2005..3, respectively. These genes represent candidate genes involved in ependymoma tumorigenesis. To the authors' knowledge, this is the first time microarray analysis and Q-PCR have been linked to identify heterozygous/homozygous deletions... - Corpora amylacea in hippocampal sclerosisW Van Paesschen
Epilepsy Research Group, University Department of Clinical Neurology, National Hospital for Neurology and Neurosurgery, London, UK
J Neurol Neurosurg Psychiatry 63:513-5. 1997..In conclusion, formation of corpora amylacea seems to be a pathological response to neuronal cell loss in most hippocampal sclerosis specimens, with no clear clinical and quantitative hippocampal MRI correlates... - Characterisation of a novel NR4A2 mutation in Parkinson's disease brainP M A Sleiman
Department of Molecular Neuroscience, Institute of Neurology, Queen Square, London WC1N 3BG, UK
Neurosci Lett 457:75-9. 2009..We performed a mutation screen of NR4A2 (also known as NURR1) in 409 Parkinson's disease (PD) patients. We identified a novel single base substitution in the 5'UTR of the NR4A2 (also known as NURR1) gene (c.-309C>T)... - Smear cytology in the intra-operative assessment of periodontoid pseudotumour of the craniocervical junctionM Galloway
Department of Histopathology, Royal Free Hospital, London, UK
Cytopathology 18:388-90. 2007..This audit aimed to examine the value of intra-operative smear cytology in the management of this condition... - Patterns of levodopa response in Parkinson's disease: a clinico-pathological studyP A Kempster
Queen Square Brain Bank for Neurological Disorders and Institute of Neurology, University College, London, UK
Brain 130:2123-8. 2007..A non-linear or exponential time relationship may govern the late clinical and pathological progression of Parkinson's disease... - Primary malignant melanoma of the cerebellopontine angleD Whinney
Department of Neuro-otology, National Hospital for Neurology and Neurosurgery, London, UK
Otol Neurotol 22:218-22. 2001..The clinical features of this case, including the radiologic and histologic findings, are described, and literature concerning management is reviewed... - Sporadic four-repeat tauopathy with frontotemporal degeneration, parkinsonism and motor neuron diseaseYue-Shan Piao
Department of Pathology, Brain Research Institute, University of Niigata, 1-757 Asahimachi, 951-8585, Niigata, Japan
Acta Neuropathol (Berl) 110:600-9. 2005..These findings indicate that a sporadic 4R tauopathy can cause frontotemporal degeneration, parkinsonism, and motor neuron disease. The present case could represent a new clinicopathological phenotype of non-familial tauopathy... - Neurofilament inclusion body disease: a new proteinopathy?Keith A Josephs
Department of Neurology, Mayo Clinic, Rochester, MN, USA
Brain 126:2291-303. 2003..We propose the term neurofilament inclusion body disease for this entity... - The expression of DJ-1 (PARK7) in normal human CNS and idiopathic Parkinson's diseaseRina Bandopadhyay
Reta Lila Weston Institute of Neurological Studies, Royal Free and UCL Medical School, 46 Cleveland Street, London W1T 4JF, UK
Brain 127:420-30. 2004..These results are consistent with the hypothesis that neuronal-glial interactions are important in the pathophysiology of Parkinson's disease... - Research in motion: the enigma of Parkinson's disease pathology spreadPatrik Brundin
Neuronal Survival Unit, Department of Experimental Medical Science, Wallenberg Neuroscience Center, Lund University, SE 221 84 Lund, Sweden
Nat Rev Neurosci 9:741-5. 2008..We discuss the possible underlying mechanisms and their implications for how pathology spreads in Parkinson's disease...