Cargando…

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

Gerstmann–Sträussler–Scheinker disease (GSS) is a rare neurodegenerative illness that belongs to the group of hereditary or familial Transmissible Spongiform Encephalopathies (TSE). Due to the presence of different pathogenic alterations in the prion protein (PrP) coding gene, it shows an enhanced p...

Descripción completa

Detalles Bibliográficos
Autores principales:	Eraña, Hasier, San Millán, Beatriz, Díaz-Domínguez, Carlos M., Charco, Jorge M., Rodríguez, Rosa, Viéitez, Irene, Pereda, Arrate, Yañez, Rosa, Geijo, Mariví, Navarro, Carmen, Perez de Nanclares, Guiomar, Teijeira, Susana, Castilla, Joaquín
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Springer Berlin Heidelberg 2022
Materias:	Original Communication
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9293843/ https://www.ncbi.nlm.nih.gov/pubmed/35294616 http://dx.doi.org/10.1007/s00415-022-11051-9

Ejemplares similares

Generation of a new infectious recombinant prion: a model to understand Gerstmann–Sträussler–Scheinker syndrome
por: Elezgarai, Saioa R., et al.
Publicado: (2017)

A Case of Gerstmann-Sträussler-Scheinker Disease
por: Park, Min Jeong, et al.
Publicado: (2010)

Gerstmann-Sträussler-Scheinker disease: A case report
por: Zhao, Ming-Ming, et al.
Publicado: (2019)

Gerstmann-Sträussler-Scheinker Disease: A Case Report
Publicado: (2023)

A case of Gerstmann-Straussler-Scheinker (GSS) disease with supranuclear gaze palsy
por: Ufkes, Nicole A., et al.
Publicado: (2019)

Cryo-EM structures of prion protein filaments from Gerstmann–Sträussler–Scheinker disease
por: Hallinan, Grace I., et al.
Publicado: (2022)

Loss of Anti-Bax Function in Gerstmann-Sträussler-Scheinker Syndrome-Associated Prion Protein Mutants
por: Jodoin, Julie, et al.
Publicado: (2009)

Gerstmann-Sträussler-Scheinker disease subtypes efficiently transmit in bank voles as genuine prion diseases
por: Pirisinu, Laura, et al.
Publicado: (2016)

Gerstmann-Sträussler-Scheinker disease (PRNP p.D202N) presenting with atypical parkinsonism
por: Baiardi, Simone, et al.
Publicado: (2020)

Transmissibility of Gerstmann–Sträussler–Scheinker syndrome in rodent models: New insights into the molecular underpinnings of prion infectivity
por: Nonno, Romolo, et al.
Publicado: (2016)

Detection of tau in Gerstmann-Sträussler-Scheinker disease (PRNP F198S) by [(18)F]Flortaucipir PET
por: Risacher, Shannon L., et al.
Publicado: (2018)

Gerstmann-Sträussler-Scheinker disease revisited: accumulation of covalently-linked multimers of internal prion protein fragments
por: Cracco, Laura, et al.
Publicado: (2019)

Analysis of 12 Chinese Patients with Proline-to-Leucine Mutation at Codon 102-Associated Gerstmann-Sträussler-Scheinker Disease
por: Wang, Jing, et al.
Publicado: (2019)

Swallowing Function Evaluation in a Patient with Gerstmann-Sträussler-Scheinker Disease with Pro105Leu: A Case Report
por: Nakane, Ayako, et al.
Publicado: (2021)

Gerstmann-Sträussler-Scheinker syndrome misdiagnosed as cervical spondylotic myelopathy: A case report with 5-year follow-up
por: Cao, Liming, et al.
Publicado: (2021)

Gerstmann–Sträussler–Scheinker Disease with F198S Mutation Induces Independent Tau and Prion Protein Pathologies in Bank Voles
por: Bruno, Rosalia, et al.
Publicado: (2022)

iPS Cell Cultures from a Gerstmann-Sträussler-Scheinker Patient with the Y218N PRNP Mutation Recapitulate tau Pathology
por: Matamoros-Angles, Andreu, et al.
Publicado: (2017)

Allelic Origin of Protease-Sensitive and Protease-Resistant Prion Protein Isoforms in Gerstmann-Sträussler-Scheinker Disease with the P102L Mutation
por: Monaco, Salvatore, et al.
Publicado: (2012)

Small Ruminant Nor98 Prions Share Biochemical Features with Human Gerstmann-Sträussler-Scheinker Disease and Variably Protease-Sensitive Prionopathy
por: Pirisinu, Laura, et al.
Publicado: (2013)

A family with hereditary cerebellar ataxia finally confirmed as Gerstmann-Sträussler-Scheinker syndrome with P102L mutation in PRNP gene
por: Long, Ling, et al.
Publicado: (2017)

Characterization of Anchorless Human PrP With Q227X Stop Mutation Linked to Gerstmann-Sträussler-Scheinker Syndrome In Vivo and In Vitro
por: Shen, Pingping, et al.
Publicado: (2020)

Case report: A Chinese patient with spinocerebellar ataxia finally confirmed as Gerstmann-Sträussler-Scheinker syndrome with P102L mutation
por: Chen, Lin, et al.
Publicado: (2023)

Extracellular Prion Protein Aggregates in Nine Gerstmann–Sträussler–Scheinker Syndrome Subjects with Mutation P102L: A Micromorphological Study and Comparison with Literature Data
por: Jankovska, Nikol, et al.
Publicado: (2021)

A family with mental disorder as the first symptom finally confirmed with Gerstmann–Sträussler–Scheinker disease with P102L mutation in PRNP gene – case report
por: Chen, Zeran, et al.
Publicado: (2023)

Serial changes in regional cerebral blood flow in Gerstmann–Sträussler–Scheinker disease caused by a Pro-to-Leu mutation at codon 105 in the prion protein gene
por: Kawai, Honami, et al.
Publicado: (2023)

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
por: Ishizawa, Keisuke, et al.
Publicado: (2018)

A Japanese family with P102L Gerstmann–Sträussler–Scheinker disease with a variant Creutzfeldt-Jakob disease-like phenotype among the siblings: A case report
por: Ota, Kazumichi, et al.
Publicado: (2021)

Sporadic Creutzfeldt–Jakob disease with extremely long 14‐year survival period
por: Kortazar‐Zubizarreta, Izaro, et al.
Publicado: (2021)

A novel seven-octapeptide repeat insertion in the prion protein gene (PRNP) in a Dutch pedigree with Gerstmann–Sträussler–Scheinker disease phenotype: comparison with similar cases from the literature
por: Jansen, Casper, et al.
Publicado: (2010)

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
por: Mercer, Robert C. C., et al.
Publicado: (2018)

What to consider when pseudohypoparathyroidism is ruled out: iPPSD and differential diagnosis
por: Pereda, Arrate, et al.
Publicado: (2018)

Insights into the Bidirectional Properties of the Sheep–Deer Prion Transmission Barrier
por: Harrathi, Chafik, et al.
Publicado: (2018)

Frequency of de novo variants and parental mosaicism in families with inactivating PTH/PTHrP signaling disorder type 2
por: Vado, Yerai, et al.
Publicado: (2023)

Improving the Pharmacological Properties of Ciclopirox for Its Use in Congenital Erythropoietic Porphyria
por: Bernardo-Seisdedos, Ganeko, et al.
Publicado: (2021)

The Prion 2018 round tables (II): Aβ, tau, α-synuclein… are they prions, prion-like proteins, or what?
por: Eraña, Hasier
Publicado: (2019)

Incidental finding at methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA): how to proceed?
por: Manero-Azua, Africa, et al.
Publicado: (2023)

Recombinant PrP and Its Contribution to Research on Transmissible Spongiform Encephalopathies
por: Charco, Jorge M., et al.
Publicado: (2017)

Novel Variant in PLAG1 in a Familial Case with Silver–Russell Syndrome Suspicion
por: Vado, Yerai, et al.
Publicado: (2020)

Morphological Hallmarks of Classical Fabry Disease: An Ultrastructural Study in a Large Spanish Family
por: San Millán-Tejado, Beatriz, et al.
Publicado: (2023)

Glycans are not necessary to maintain the pathobiological features of bovine spongiform encephalopathy
por: Otero, Alicia, et al.
Publicado: (2022)

Cannot write session to /tmp/vufind_sessions/sess_24k66m8lsmed37vf7rt9pfaqip