TY - JOUR AU - Tárnoki, Ádám Domonkos AU - Tárnoki, Dávid László AU - Forgó, Bianka AU - Szabó, Helga AU - Melicher, Dóra AU - Metneki, Julia AU - Littvay, Levente TI - The Hungarian Twin Registry Update: Turning From a Voluntary to a Population-Based Registry JF - TWIN RESEARCH AND HUMAN GENETICS J2 - TWIN RES HUM GENET VL - 22 PY - 2019 IS - 6 SP - 561 EP - 566 PG - 6 SN - 1832-4274 DO - 10.1017/thg.2019.100 UR - https://m2.mtmt.hu/api/publication/31122140 ID - 31122140 N1 - Department of Medical Imaging, Semmelweis University, Budapest, Hungary Hungarian Twin Registry Foundation, Budapest, Hungary Department of Genetics, Cell- and Immunobiology, Semmelweis University, Budapest, Hungary MTA-SE Immune-Proteogenomics Extracellular Vesicle Research Group, Budapest, Hungary Department of Political Science, Central European University, Budapest, Hungary Cited By :22 Export Date: 5 February 2025 Correspondence Address: Tarnoki, A.D.; Department of Medical Imaging, Hungary; email: tarnoki2@gmail.com LA - English DB - MTMT ER - TY - JOUR AU - Ling, H. AU - de, Silva R. AU - Massey, L. A. AU - Courtney, R. AU - Hondhamuni, G. AU - Bajaj, N. AU - Lowe, J. AU - Holton, J. L. AU - Lees, A. AU - Révész, Tamás TI - Characteristics of progressive supranuclear palsy presenting with corticobasal syndrome. a cortical variant TS - a cortical variant JF - NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY J2 - NEUROPATH APPL NEURO VL - 40 PY - 2014 IS - 2 SP - 149 EP - 163 PG - 15 SN - 0305-1846 DO - 10.1111/nan.12037 UR - https://m2.mtmt.hu/api/publication/35461286 ID - 35461286 AB - AimsSince the first description of the classical presentation of progressive supranuclear palsy (PSP) in 1963, now known as Richardson's syndrome (PSP-RS), several distinct clinical syndromes have been associated with PSP-tau pathology. Like other neurodegenerative disorders, the severity and distribution of phosphorylated tau pathology are closely associated with the clinical heterogeneity of PSP variants. PSP with corticobasal syndrome presentation (PSP-CBS) was reported to have more tau load in the mid-frontal and inferior-parietal cortices than in PSP-RS. However, it is uncertain if differences exist in the distribution of tau pathology in other brain regions or if the overall tau load is increased in the brains of PSP-CBS. MethodsWe sought to compare the clinical and pathological features of PSP-CBS and PSP-RS including quantitative assessment of tau load in 15 cortical, basal ganglia and cerebellar regions. ResultsIn addition to the similar age of onset and disease duration, we demonstrated that the overall severity of tau pathology was the same between PSP-CBS and PSP-RS. We identified that there was a shift of tau burden towards the cortical regions away from the basal ganglia; supporting the notion that PSP-CBS is a cortical' PSP variant. PSP-CBS also had less severe neuronal loss in the dorsolateral and ventrolateral subregions of the substantia nigra and more severe microglial response in the corticospinal tract than in PSP-RS; however, neuronal loss in subthalamic nucleus was equally severe in both groups. ConclusionsA better understanding of the factors that influence the selective pathological vulnerability in different PSP variants will provide further insights into the neurodegenerative process underlying tauopathies. LA - English DB - MTMT ER - TY - JOUR AU - Massey, Luke A. AU - Micallef, Caroline AU - Paviour, Dominic C. AU - O'Sullivan, Sean S. AU - Ling, Helen AU - Williams, David R. AU - Kallis, Constantinos AU - Holton, Janice L. AU - Révész, Tamás AU - Burn, David J. AU - Yousry, Tarek AU - Lees, Andrew J. AU - Fox, Nick C. AU - Jaeger, Hans R. TI - Conventional magnetic resonance imaging in confirmed progressive supranuclear palsy and multiple system atrophy JF - MOVEMENT DISORDERS J2 - MOVEMENT DISORD VL - 27 PY - 2012 IS - 14 SP - 1755 EP - 1762 PG - 8 SN - 0885-3185 DO - 10.1002/mds.24968 UR - https://m2.mtmt.hu/api/publication/35461306 ID - 35461306 AB - Conventional magnetic resonance imaging (cMRI) is often used to aid the diagnosis of progressive supranuclear palsy (PSP) and multiple system atrophy (MSA), but its ability to predict the histopathological diagnosis has not been systematically studied. cMRI from 48 neuropathologically confirmed cases, including PSP (n = 22), MSA (n = 13), Parkinson's disease (PD) (n = 7), and corticobasal degeneration (n = 6), and controls (n = 9) were assessed blinded to clinical details and systematically rated for reported abnormalities. Clinical diagnosis and macroscopic postmortem findings were retrospectively assessed. Radiological assessment of MRI was correct in 16 of 22 (72.7%) PSP cases and 10 of 13 (76.9%) MSA cases with substantial interrater agreement (Cohen's kappa 0.708; P < .001); no PSP case was misclassified as MSA or vice versa. MRI was less sensitive but more specific than clinical diagnosis in PSP and both more sensitive and specific than clinical diagnosis in MSA. The "hummingbird" and "morning glory" signs were highly specific for PSP, and "the middle cerebellar peduncle sign" and "hot cross bun" for MSA, but sensitivity was lower (up to 68.4%) and characteristic findings may not be present even at autopsy. cMRI, clinical diagnosis, and macroscopic examination at postmortem have similar sensitivity and specificity in predicting a neuropathological diagnosis. We have validated specific radiological signs in pathologically confirmed PSP and MSA. However, the low sensitivity of these and macroscopic findings at autopsy suggest a need for imaging techniques sensitive to microstructural abnormalities without regional atrophy. (C) 2012 Movement Disorder Society LA - English DB - MTMT ER -