Cargando…

A family with hereditary cerebellar ataxia finally confirmed as Gerstmann-Sträussler-Scheinker syndrome with P102L mutation in PRNP gene

Gerstmann-Sträussler-Scheinker syndrome (GSS) is an exceedingly rare prion disease. There are only 3 case reports of GSS in China. Here we report the first GSS family in southern China. A 47-year-old female complained of unsteady gait and dysarthria. Seven other individuals presented similar symptom...

Descripción completa

Detalles Bibliográficos
Autores principales:	Long, Ling, Cai, Xiaodong, Shu, Yaqing, Lu, Zhengqi
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Riyadh : Armed Forces Hospital 2017
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5726821/ https://www.ncbi.nlm.nih.gov/pubmed/28416787 http://dx.doi.org/10.17712/nsj.2017.2.20160522

Ejemplares similares

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)

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)

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

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

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

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: A Case Report
Publicado: (2023)

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)

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

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)

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

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)

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)

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)

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

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

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 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)

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)

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)

Description of the first Spanish case of Gerstmann–Sträussler–Scheinker disease with A117V variant: clinical, histopathological and biochemical characterization
por: Eraña, Hasier, et al.
Publicado: (2022)

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)

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)

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 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)

Gerstmann's syndrome and unilateral optic ataxia in the emergency department
por: Barbosa, Breno José Alencar Pires, et al.
Publicado: (2017)

Hereditary Cerebellar Ataxias: A Korean Perspective
por: Kim, Ji Sun, et al.
Publicado: (2015)

Experimental neurotransplantation treatment for hereditary cerebellar ataxias
por: Cendelin, Jan
Publicado: (2016)

Molecular Characterization of Portuguese Patients with Hereditary Cerebellar Ataxia
por: Santos, Mariana, et al.
Publicado: (2022)

Pseudoproptosis in a case of familial hereditary cerebellar ataxia
por: Nivean, Pratheeba D, et al.
Publicado: (2022)

Clinical Recognition of Sensory Ataxia and Cerebellar Ataxia
por: Zhang, Qing, et al.
Publicado: (2021)

Initial Cerebellar Ataxia in Hereditary Adult-Onset Primary Lateral Sclerosis
por: Gazulla, José, et al.
Publicado: (2021)

The Therapeutic Potential of Non-Invasive and Invasive Cerebellar Stimulation Techniques in Hereditary Ataxias
por: Benussi, Alberto, et al.
Publicado: (2023)

GERSTMANN’S SYNDROME IN ACUTE STROKE PATIENTS
por: Zukic, Sanela, et al.
Publicado: (2012)

Top-Down but Not Bottom-Up Visual Scanning is Affected in Hereditary Pure Cerebellar Ataxia
por: Matsuda, Shunichi, et al.
Publicado: (2014)

The 3-Second Rule in Hereditary Pure Cerebellar Ataxia: A Synchronized Tapping Study
por: Matsuda, Shunichi, et al.
Publicado: (2015)

Cannot write session to /tmp/vufind_sessions/sess_um10nbpl361n5pfpnn2aindo7p