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Eta Lila Weston Institute of Neurological Studies UCL Institute of Neurology University College London

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Eta Lila Weston Institute of Neurological Studies UCL Institute of Neurology University College London Unravelling the tangled web of atypical parkinsonism Thesis submitted in fulfilment of the degree of Doctor of Philosophy Reta Lila Weston Institute of Neurological Studies UCL Institute of Neurology University College London 2014 Helen Ling 1 I, Helen Ling confirm that the work presented in this thesis is my own. Where information has been derived from other sources, I confirm that this has been indicated in the thesis. Signed: Date: 2 Abstract This thesis focuses on sporadic parkinsonian syndromes that are associated with neurofibrillary degeneration and the accumulation of abnormal tau protein in the brain. The classic clinical presentation of corticobasal degeneration is a specific constellation of cortical and extrapyramidal signs, collectively termed corticobasal syndrome. The evaluation of all the archival cases with corticobasal degeneration in the Queen Square Brain Bank for Neurological Disorders reveals the high frequency of other phenotypic presentations. The result indicates that corticobasal degeneration commonly presents with a clinical picture, closely resembling progressive supranuclear palsy (PSP) or Richardson’s syndrome. On the other hand, cases with typical PSP pathology may occasionally present with a corticobasal syndrome. A quantitative assessment of the severity of tau pathology in different brain regions of the two phenotypic presentations of PSP reveals topographical differences that are closely linked with their respective clinical features. The features of repetitive finger tapping and handwriting in patients with PSP and Parkinson’s disease are compared and a distinct abnormality is identified in PSP which may be useful in differentiating PSP-parkinsonism from Parkinson’s disease. Twelve cases clinically presenting with a levodopa-responsive parkinsonian syndrome and post-mortem findings of nigral degeneration and predominant tau inclusions, which could not be readily classified into any recognised clinicopathological entity are also studied. 3 Publications related to this thesis 1. Ling H, O'Sullivan SS, Holton JL, Revesz T, Massey LA, Williams DR, Paviour DC, Lees AJ. Does corticobasal degeneration exist? A clinicopathological re- evaluation. Brain. 2010 Jul;133:2045-57. (Chapter 2) 2. Ling H, de Silva R, Massey LA, Courtney R, Hondhamuni G, Bajaj N, Lowe J, Holton JL, Lees A, Revesz T. Characteristics of progressive supranuclear palsy presenting with corticobasal syndrome: a cortical variant. Neuropathology Applied Neurobiology. 2013 Feb 22. (Chapter 3) 3. Ling H, Massey LA, Lees AJ, Brown P, Day BL. Hypokinesia without decrement distinguishes progressive supranuclear palsy from Parkinson's disease. Brain. 2012 Apr;135:1141-53. (Chapter 4) 4. Ling H, Holton JL, Lees AJ, Revesz T. TDP-43 pathology is present in most postencephalitic parkinsonism brains. Neuropathology and Applied Neurobiology. 2013 Jun 13. (Chapter 5) 5. Kara E, Ling H (co-first author), Pittman AM, Shaw K, de Silva R, Simone R, Holton JL, Warren JD, Rohrer JD, Xiromerisiou G, Lees A, Hardy J, Houlden H, Revesz T. The MAPT p.A152T variant is a risk factor associated with tauopathies with atypical clinical and neuropathological features. Neurobiology of Aging. 2012 Sep;33(9):2231. (Chapter 5) 6. Ling H, Kara E, Bandopadhyay R, Hardy J, Holton J, Xiromerisiou G, Lees A, Houlden H, Revesz T. TDP-43 pathology in a patient carrying G2019S LRRK2 mutation and a novel p.Q124E MAPT. Neurobiology of Aging. 2013 May 9. (Chapter 5) 4 Publications during the degree period 1. Kiely AP, Asi YT, Kara E, Limousin P, Ling H, Lewis P, Proukakis C, Quinn N, Lees AJ, Hardy J, Revesz T, Houlden H, Holton JL. α-Synucleinopathy associated with G51D SNCA mutation: a link between Parkinson's disease and multiple system atrophy? Acta Neuropathologica. 2013 May;125(5):753-69. 2. Massey LA, Jäger HR, Paviour DC, O'Sullivan SS, Ling H, Williams DR, Kallis C, Holton J, Revesz T, Burn DJ, Yousry T, Lees AJ, Fox NC, Micallef C. The midbrain to pons ratio: a simple and specific MRI sign of progressive supranuclear palsy. Neurology. 2013 May 14;80(20):1856-61. 3. Magdalinou NK, Ling H, Smith JD, Schott JM, Watkins LD, Lees AJ. Normal pressure hydrocephalus or progressive supranuclear palsy? A clinicopathological case series. Journal of Neurology. 2013 Apr;260(4):1009-13. 4. Lee W, Simpson M, Ling H, McLean C, Collins S, Williams DR. Characterising the uncommon corticobasal syndrome presentation of sporadic Creutzfeldt-Jakob disease. Parkinsonism and Related Disorders. 2013 Jan;19(1):81-5. 5. Massey LA, Micallef C, Paviour DC, O'Sullivan SS, Ling H, Williams DR, Kallis C, Holton JL, Revesz T, Burn DJ, Yousry T, Lees AJ, Fox NC, Jäger HR. Conventional magnetic resonance imaging in confirmed progressive supranuclear palsy and multiple system atrophy. Movement Disorders. 2012 Dec;27(14):1754- 62. 6. Ling H, Petrovic I, Day BL, Lees AJ. Smoking-induced transient motor deterioration in a levodopa-treated patient with Parkinson's disease. Journal of Neurology. 2012 Nov;259(11):2419-23. 7. Petrovic IN, Ling H, Asi Y, Ahmed Z, Kukkle PL, Hazrati LN, Lang AE, Revesz T, Holton JL, Lees AJ. Multiple system atrophy-parkinsonism with slow progression and prolonged survival: a diagnostic catch. Movement Disorders. 2012 Aug;27(9):1186-90. 5 8. Ling H, Braschinsky M, Taba P, Lüüs SM, Doherty K, Hotter A, Poewe W, Lees AJ. Decades of delayed diagnosis in 4 levodopa-responsive young-onset monogenetic parkinsonism patients. Movement Disorders. 2011 Jun;26(7):1337- 40. 9. Ling H, Polke JM, Sweeney MG, Haworth A, Sandford CA, Heales SJ, Wood NW, Davis MB, Lees AJ. An intragenic duplication in guanosine triphosphate cyclohydrolase-1 gene in a dopa-responsive dystonia family. Movement Disorders. 2011 Apr;26(5):905-9. 10. Ling H, Lees AJ (2010). How can neuroimaging help in the diagnosis of movement disorders? Neuroimaging Clinics of North America. 2010 Feb;20(1):111-23. 6 Declaration of collaborative work Chapter 5: The majority of this study was undertaken by Dr Helen Ling. Genetic sequencing was performed by Dr Eleanna Kara, Department of Molecular Neuroscience, Institute of Neurology, University College London, Queen Square, London. 7 List of abbreviations 3R Three-repeat 4R Four-repeat AD Alzheimer’s disease AGD Argyrophilic grain disease ALS Amyotrophic lateral sclerosis ANOVA Analysis of variance CAA Cerebral amyloid angiopathy CB Coiled body CBD Corticobasal degeneration CBS Corticobasal syndrome CERAD Consortium to Establish a Registry for Alzheimer’s disease CI Confidence interval C-SPOND Cervical spondylosis CST Corticospinal tract CTE Chronic traumatic encephalopathy CV Coefficient of variation CVD Cerebrovascular disease DEG Degree EL Encephalitis lethargica ESP Exome Sequencing Project F Female FAB Frontal assessment battery FTD Frontal temporal dementia FTDbv Behavioural variant of frontotemporal dementia FTDP-17 Frontotemporal dementia with parkinsonism linked to chromosome 17 GPi Globus pallidus interna GWAS Genome-wide association study H&Y Hoehn and Yahr Parkinson’s disease staging LED Levodopa equivalent dose LRRK2 Leucine-rich repeat kinase 2 8 M Male MAP Microtubule-associated protein MAPT Microtubule-associated protein gene MND Motor neuron disease MSA Multiple system atrophy NA Not applicable NFT Neurofibrillary tangle NHLBI National Heart Lung Blood Institute NIEHS National Institute of Environmental Health Sciences NK Not known / features not recorded NPV Negative predictive values NS Not statistically significant NT Neuropil threads PAGF Primary akinesia with gait freezing PD Parkinson’s disease PDC parkinsonism-dementia complex of Guam PD-OFF Parkinson’s disease during ‘Off’ state PD-ON Parkinson’s disease during ‘ON’ state PEP Postencephalitic parkinsonism PKAN Pantothenate kinase-associated neurodegeneration PND Parkinsonism with neurofibrillary degeneration PNFA Progressive non-fluent aphasia PNLA Pallidonigroluysian atrophy PPA Primary progressive aphasia PPV Positive predictive values PreT Pretangle PSP Progressive supranuclear palsy PSP-P Progressive supranuclear palsy-parkinsonism QSBB Queen Square Brain Bank for Neurological Disorders RS Richardson’s syndrome SD Standard deviation SDS-PAGE Sodium dodecyl sulphate-polyacrylamide gel electrophoresis SMA Supplementary motor area 9 SN Substantia nigra SPSS Software package used for statistical analysis SSPE Subacute sclerosing panencephalitis STN Subthalamic nucleus SVD Small vessel disease TA Tufted astrocyte TDP-43 Transactive response DNA-binding protein 43 UPDRS Unified Parkinson’s Disease Rating Scale VSGP Vertical supranuclear gaze palsy 10 Table of contents Abstract ........................................................................................................................... 3 Publications related to this thesis ................................................................................... 4 Publications during the degree period ............................................................................ 5 Declaration of collaborative work .................................................................................. 7 List of abbreviations ........................................................................................................ 8 Table of contents ........................................................................................................... 11 List of tables .................................................................................................................. 14 List of figures ...............................................................................................................
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