Gerstmann-Straussler Syndrome - PMC

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Select item 57863311.

A novel Gerstmann-Sträussler-Scheinker disease mutation defines a precursor for amyloidogenic 8 kDa PrP fragments and reveals N-terminal structural changes shared by other GSS alleles

Robert C. C. Mercer, Nathalie Daude, Lyudmyla Dorosh, Ze-Lin Fu, Charles E. Mays, Hristina Gapeshina, Serene L. Wohlgemuth, Claudia Y. Acevedo-Morantes, Jing Yang, Neil R. Cashman, Michael B. Coulthart, Dawn M. Pearson, Jeffrey T. Joseph, Holger Wille, Jiri G. Safar, Gerard H. Jansen, Maria Stepanova, Brian D. Sykes, David Westaway

PLoS Pathog. 2018 Jan; 14(1): e1006826. Published online 2018 Jan 16. doi: 10.1371/journal.ppat.1006826

PMCID:: PMC5786331

Article PDF–12M

Select item 92938432.

Description of the first Spanish case of Gerstmann–Sträussler–Scheinker disease with A117V variant: clinical, histopathological and biochemical characterization

Hasier Eraña, Beatriz San Millán, Carlos M. Díaz-Domínguez, Jorge M. Charco, Rosa Rodríguez, Irene Viéitez, Arrate Pereda, Rosa Yañez, Mariví Geijo, Carmen Navarro, Guiomar Perez de Nanclares, Susana Teijeira, Joaquín Castilla

J Neurol. 2022; 269(8): 4253–4263. Published online 2022 Mar 16. doi: 10.1007/s00415-022-11051-9

PMCID:: PMC9293843

Article PDF–1.4M

Select item 61923933.

An autopsy report of three kindred in a Gerstmann–Sträussler–Scheinker disease P105L family with a special reference to prion protein, tau, and beta‐amyloid

Keisuke Ishizawa, Takashi Mitsufuji, Kei Shioda, Atsushi Kobayashi, Takashi Komori, Yoshihiko Nakazato, Tetsuyuki Kitamoto, Nobuo Araki, Toshimasa Yamamoto, Atsushi Sasaki

Brain Behav. 2018 Oct; 8(10): e01117. Published online 2018 Sep 21. doi: 10.1002/brb3.1117

PMCID:: PMC6192393

Article PDF–1.7M

Select item 64441464.

Analysis of 12 Chinese Patients with Proline-to-Leucine Mutation at Codon 102-Associated Gerstmann-Sträussler-Scheinker Disease

Jing Wang, Kang Xiao, Wei Zhou, Qi Shi, Xiao-Ping Dong

J Clin Neurol. 2019 Apr; 15(2): 184–190. Published online 2019 Mar 11. doi: 10.3988/jcn.2019.15.2.184

PMCID:: PMC6444146

Article PDF–660K

Select item 87045985.

Extracellular Prion Protein Aggregates in Nine Gerstmann–Sträussler–Scheinker Syndrome Subjects with Mutation P102L: A Micromorphological Study and Comparison with Literature Data

Nikol Jankovska, Radoslav Matej, Tomas Olejar

Int J Mol Sci. 2021 Dec; 22(24): 13303. Published online 2021 Dec 10. doi: 10.3390/ijms222413303

PMCID:: PMC8704598

Article PDF–3.9M

Select item 47408016.

Gerstmann-Sträussler-Scheinker disease subtypes efficiently transmit in bank voles as genuine prion diseases

Laura Pirisinu, Michele A. Di Bari, Claudia D’Agostino, Stefano Marcon, Geraldina Riccardi, Anna Poleggi, Mark L. Cohen, Brian S. Appleby, Pierluigi Gambetti, Bernardino Ghetti, Umberto Agrimi, Romolo Nonno

Sci Rep. 2016; 6: 20443. Published online 2016 Feb 4. doi: 10.1038/srep20443

PMCID:: PMC4740801

Article PDF–2.0M

Select item 67005937.

Gerstmann-Sträussler-Scheinker syndrome misdiagnosed as conversion disorder

Aiyang Allen Jiang, Katherine Longardner, Dennis Dickson, Rebecca Sell

BMJ Case Rep. 2019; 12(8): e229729. Published online 2019 Aug 13. doi: 10.1136/bcr-2019-229729

PMCID:: PMC6700593

Article PDF–2.1M

Select item 62771808.

Specific amyloid-β42 deposition in the brain of a Gerstmann-Sträussler-Scheinker disease patient with a P105L mutation on the prion protein gene

Fumiko Furukawa, Nobuo Sanjo, Atsushi Kobayashi, Tsuyoshi Hamaguchi, Masahito Yamada, Tetsuyuki Kitamoto, Hidehiro Mizusawa, Takanori Yokota

Prion. 2018; 12(5-6): 315–319. Published online 2018 Nov 13. doi: 10.1080/19336896.2018.1541689

PMCID:: PMC6277180

Article PDF–861K

Select item 84661039.

Swallowing Function Evaluation in a Patient with Gerstmann-Sträussler-Scheinker Disease with Pro105Leu: A Case Report

Ayako Nakane, Shohei Hasegawa, Miki Ishii, Tomoe Tamai, Rieko Moritoyo, Mitsuko Saito, Mariko Ando, Haruka Tohara

Int J Environ Res Public Health. 2021 Sep; 18(18): 9734. Published online 2021 Sep 15. doi: 10.3390/ijerph18189734

PMCID:: PMC8466103

Article PDF–1.6M

Select item 802868510.

Recent advances in the histo‐molecular pathology of human prion disease

Simone Baiardi, Marcello Rossi, Sabina Capellari, Piero Parchi

Brain Pathol. 2019 Mar; 29(2): 278–300. Published online 2019 Jan 22. doi: 10.1111/bpa.12695

PMCID:: PMC8028685

Article PDF–1.0M

Select item 593258911.

Genetic PrP Prion Diseases

Mee-Ohk Kim, Leonel T. Takada, Katherine Wong, Sven A. Forner, Michael D. Geschwind

Cold Spring Harb Perspect Biol. 2018 May; 10(5): a033134. doi: 10.1101/cshperspect.a033134

PMCID:: PMC5932589

Article PDF–2.7M

Select item 938144612.

Cryo-EM structures of prion protein filaments from Gerstmann–Sträussler–Scheinker disease

Grace I. Hallinan, Kadir A. Ozcan, Md Rejaul Hoq, Laura Cracco, Frank S. Vago, Sakshibeedu R. Bharath, Daoyi Li, Max Jacobsen, Emma H. Doud, Amber L. Mosley, Anllely Fernandez, Holly J. Garringer, Wen Jiang, Bernardino Ghetti, Ruben Vidal

Acta Neuropathol. 2022; 144(3): 509–520. Published online 2022 Jul 12. doi: 10.1007/s00401-022-02461-0

PMCID:: PMC9381446

Article PDF–2.2M

Select item 1043536713.

Case report: A Chinese patient with spinocerebellar ataxia finally confirmed as Gerstmann-Sträussler-Scheinker syndrome with P102L mutation

Lin Chen, Yin Xu, Ming-juan Fang, Yong-guang Shi, Jie Zhang, Liang-liang Zhang, Yu Wang, Yong-zhu Han, Ji-yuan Hu, Ren-min Yang, Xu-en Yu

Front Neurol. 2023; 14: 1187813. Published online 2023 Aug 3. doi: 10.3389/fneur.2023.1187813

PMCID:: PMC10435367

Article PDF–1.4M

Select item 959980614.

Gerstmann–Sträussler–Scheinker Disease with F198S Mutation Induces Independent Tau and Prion Protein Pathologies in Bank Voles

Rosalia Bruno, Laura Pirisinu, Geraldina Riccardi, Claudia D’Agostino, Elena De Cecco, Giuseppe Legname, Franco Cardone, Pierluigi Gambetti, Romolo Nonno, Umberto Agrimi, Michele Angelo Di Bari

Biomolecules. 2022 Oct; 12(10): 1537. Published online 2022 Oct 21. doi: 10.3390/biom12101537

PMCID:: PMC9599806

Article PDF–10M

Select item 516129615.

Transmissibility of Gerstmann–Sträussler–Scheinker syndrome in rodent models: New insights into the molecular underpinnings of prion infectivity

Romolo Nonno, Michele Angelo Di Bari, Umberto Agrimi, Laura Pirisinu

Prion. 2016; 10(6): 421–433. Published online 2016 Nov 28. doi: 10.1080/19336896.2016.1239686

PMCID:: PMC5161296

Article PDF–394K

Select item 369124616.

Small Ruminant Nor98 Prions Share Biochemical Features with Human Gerstmann-Sträussler-Scheinker Disease and Variably Protease-Sensitive Prionopathy

Laura Pirisinu, Romolo Nonno, Elena Esposito, Sylvie L. Benestad, Pierluigi Gambetti, Umberto Agrimi, Wen-Quan Zou

PLoS One. 2013; 8(6): e66405. Published online 2013 Jun 24. doi: 10.1371/journal.pone.0066405

PMCID:: PMC3691246

Article PDF–3.2M

Select item 601651417.

A Chinese patient of P102L Gerstmann-Sträussler-Scheinker disease contains three other disease-associated mutations in SYNE1

Jing Wang, Kang Xiao, Wei Zhou, Chen Gao, Cao Chen, Qi Shi, Xiao-Ping Dong

Prion. 2018; 12(2): 150–155. Published online 2018 Apr 2. doi: 10.1080/19336896.2018.1447733

PMCID:: PMC6016514

Article PDF–846K

Select item 809468618.

PET of Brain Prion Protein Amyloid in Gerstmann–Sträussler–Scheinker Disease

Vladimir Kepe, Bernardino Ghetti, Martin R. Farlow, Mara Bresjanac, Karen Miller, Sung‐Cheng Huang, Koon‐Pong Wong, Jill R. Murrell, Pedro Piccardo, Francine Epperson, Grega Repovš, Lojze M. Smid, Andrej Petrič, Prabha Siddarth, Jie Liu, Nagichettiar Satyamurthy, Gary W. Small, Jorge R. Barrio

Brain Pathol. 2010 Mar; 20(2): 419–430. Published online 2009 Jun 9. doi: 10.1111/j.1750-3639.2009.00306.x