Results 51 to 60 of about 2,165,687 (231)

SPG4 and Dementia: Expanding the Clinical Spectrum

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Hereditary spastic paraplegia (HSP) is a group of disorders characterized by progressive spasticity and lower limb weakness, with mutations in SPG4/SPAST being the most common cause. Detailed studies and clinical and molecular comparisons across different populations are missing.
Emanuele Panza, Arun Meyyazhagan, Eliseo Picchi, Gustavo Ribas, Ingrid Faber, Ryosuke Miyamoto, Preethi Basavaraju, Paolo Eusebi, Haripriya Kuchi Bhotla, Mario Stasi, Fabrizio Gaudiello, Francesco Patti, Filippo Maria Santorelli, Marcondes Cavalcante França Jr, José Luiz Pedroso, Orlando Graziani Povoas Barsottini, Hélio Afonso Ghizoni Teive, Peter Henry St George‐Hyslop, Toshitaka Kawarai, Antonio Orlacchio   +19 more
wiley   +1 more source

A study of the incubation period, or age at onset, of the transmissible spongiform encephalopathies/prion diseases. [PDF]

In order to model epidemics of infectious diseases, particularly to estimate probable numbers of cases with onset at any particular time, it is necessaiy to incorporate a term for the incubation period frequency distribution. Sartwell's hypothesis states
Wooldridge, Marion Joan Anstee
core   +1 more source

Studies of the transmissibility of the agent of bovine spongiform encephalopathy to the domestic chicken [PDF]

, 2011
Background: Transmission of the prion disease bovine spongiform encephalopathy (BSE) occurred accidentally to cattle and several other mammalian species via feed supplemented with meat and bone meal contaminated with infected bovine tissue.
Stack Michael J, Robert B Green, Paul R Webb, Simmons, M.M., Timm Konold, Spencer, Y.I., Moore Jo, Marion M Simmons, Ian Dexter, Moore, J., Michael Dawson, Jo Moore, Chaplin, M.J., Webb, P.R., Dexter, I., Wells Gerald AH, Austin, A.R., Dawson, M., Austin Anthony R, Gerald AH Wells, Michael J Stack, Anthony R Austin, Wells, G.A.H, Green Robert B, Langeveld, J.P.M., Ian W Blamire, Stack, M.J., Melanie J Chaplin, Simmons, M., Konold Timm, Dawson Michael, Spencer Yvonne I, Hawkins, S.A.C., Konold, T., Simmons Marion M, Chaplin Melanie J, Hawkins Stephen AC, Dexter Ian, Blamire Ian W, Langeveld Jan PM, Jan PM Langeveld, Webb, P.R.I., Yvonne I Spencer, Green, R.B., Blamire, I.W., Webb Paul R, Stephen AC Hawkins   +46 more
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Characterisation and prion transmission study in mice with genetic reduction of sporadic Creutzfeldt-Jakob disease risk gene Stx6

Neurobiology of Disease
Sporadic Creutzfeldt-Jakob disease (sCJD), the most common human prion disease, is thought to occur when the cellular prion protein (PrPC) spontaneously misfolds and assembles into prion fibrils, culminating in fatal neurodegeneration.
Emma Jones, Elizabeth Hill, Jacqueline Linehan, Tamsin Nazari, Adam Caulder, Gemma F. Codner, Marie Hutchison, Matthew Mackenzie, Michael Farmer, Thomas Coysh, Michael Wiggins De Oliveira, Huda Al-Doujaily, Malin Sandberg, Emmanuelle Viré, Thomas J. Cunningham, Emmanuel A. Asante, Sebastian Brandner, John Collinge, Simon Mead   +18 more
doaj   +1 more source

Comprehensive Characterization of 98 Chinese Cases of Genetic Creutzfeldt‐Jakob Disease With T188K Mutation

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To characterize the demographic, clinical, and laboratory features of the Chinese patients of genetic Creutzfeldt‐Jakob disease with T188K variant (T188K‐gCJD), the most common subtype of genetic prion diseases (gPrDs) in China. Methods In this nationwide retrospective study, data from 98 genetically confirmed T188K‐gCJD patients ...
Chun‐Jie Li, Dong‐Lin Liang, Li‐Ping Gao, Wei‐Wei Zhang, Wei Zhou, A. Ruhan, Bing Xu, Run‐Dong Cao, Kang Xiao, Cao Chen, Qi Shi, Xiao‐Ping Dong   +11 more
wiley   +1 more source

The 37kDa/67kDa laminin receptor as a therapeutic target in prion diseases: potency of antisense LRP RNA, siRNAs specific for LRP mRNA and a LRP decoy mutant [PDF]

, 2006
Prion diseases are a group of rare, fatal neurodegenerative diseases, also known as transmissible spongiform encephalopathies (TSEs), that affect both animals and humans and include bovine spongiform encephalopathy (BSE) in cattle, scrapie in sheep ...
Vana, Karen
core   +1 more source

Characterizing Cutaneous α‐Synuclein Deposition and Seeding Activity in Parkinson's Disease Subtypes

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Cutaneous phosphorylated α‐synuclein (p‐syn) and α‐synuclein seeding activity are promising biomarkers for Parkinson's disease (PD), but their clinical value remains uncertain due to disease heterogeneity. This study evaluates these two biomarkers in PD patients to inform phenotype‐specific diagnosis and disease severity assessment ...
Yuting Jin, Tianyuan Yang, Minglei Liu, Haiyang Luo, Jing Yuan, Ke Zhang, Xinsheng Han, Jing Yang, Yuming Xu   +8 more
wiley   +1 more source

The crystal structure of the globular domain of sheep prion protein [PDF]

, 2004
The prion protein PrP is a naturally occurring polypeptide that becomes transformed from a normal conformation to that of an aggregated form, characteristic of pathological states in fatal transmissible spongiform conditions such as Creutzfeld–Jacob ...
Vasisht N, Whyte, SM, Dodson EJ, Vasisht, N, Gill, A.C., Whyte, S.M., Dodson, G.G., Whyte, S M, Vasisht, N., Bayley, P M, Verma, C., Verma C, Gill, A C, Bayley, PM, Bayley, P.M., Whyte SM, Haire LF, Gill AC, Gill, AC, Bayley PM, Dodson, EJ, Haire, L.F., Dodson, GG, Dodson, E.J., Haire, L F, Verma, C, Haire, LF, Dodson, E J, Dodson, G G   +28 more
core   +1 more source

Stage‐Dependent β‐Synuclein Links MRI and Cognitive Decline in Alzheimer's Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Synaptic degeneration drives cognitive decline in Alzheimer's disease (AD), but synaptic biomarkers are scarce. Brain‐enriched β‐synuclein emerged as a synaptic damage marker. We investigated its diagnostic, prognostic, and structural correlates across the AD continuum.
Ulaş Ay, Merve Alaylioglu, Erdi Sahin, Sanem Sultan Yoruk Oner, Gulce Iskan, Gulce Cosku Yilmaz Cakan, Gozde Kizilates‐Evin, Emre Hari, Elif Kurt, Erdinc Dursun, Basar Bilgic, Hasmet Hanagasi, Hakan Gurvit, Tamer Demiralp, Duygu Gezen‐Ak, Bedia Samanci   +15 more
wiley   +1 more source

The presence of valine at residue 129 in human prion protein accelerates amyloid formation [PDF]

, 2005
The polymorphism at residue 129 of the human PRNP gene modulates disease susceptibility and the clinicopathological phenotypes in human transmissible spongiform encephalopathies.
Tahiri-Alaoui, Abdessamad, Gill, A, Shaw, Michael, Shaw, M, Baskakov, I, Breydo, L, James, W, Tahiri-Alaoui, A, Disterer, Petra, Gill, Andrew, Baskakov, Ilia, Breydo, Leonid, Disterer, P, James, William   +13 more
core   +1 more source