TESAR, Adam, Radoslav MATEJ, Jaromir KUKAL, Silvie JOHANIDESOVA, Irena REKTOROVÁ, Martin VYHNALEK, Jiri KELLER, Ilona ELIÁŠOVÁ, Eva PAROBKOVA, Magdalena SMETAKOVA, Zuzana MUSOVA a Robert RUSINA. Clinical Variability in P102L Gerstmann-Straussler-Scheinker Syndrome. Annals of neurology. Hoboken: John Wiley & Sons, 2019, roč. 86, č. 5, s. 643-652. ISSN 0364-5134. Dostupné z: https://dx.doi.org/10.1002/ana.25579. |
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@article{1593120, author = {Tesar, Adam and Matej, Radoslav and Kukal, Jaromir and Johanidesova, Silvie and Rektorová, Irena and Vyhnalek, Martin and Keller, Jiri and Eliášová, Ilona and Parobkova, Eva and Smetakova, Magdalena and Musova, Zuzana and Rusina, Robert}, article_location = {Hoboken}, article_number = {5}, doi = {http://dx.doi.org/10.1002/ana.25579}, keywords = {PRION PROTEIN GENE; CREUTZFELDT-JAKOB-DISEASE; PHENOTYPIC HETEROGENEITY; VARIABLE PHENOTYPE; JAPANESE FAMILY; MUTATION; PRNP; INVOLVEMENT; CODON-102; DEMENTIA}, language = {eng}, issn = {0364-5134}, journal = {Annals of neurology}, title = {Clinical Variability in P102L Gerstmann-Straussler-Scheinker Syndrome}, url = {http://dx.doi.org/10.1002/ana.25579}, volume = {86}, year = {2019} }
TY - JOUR ID - 1593120 AU - Tesar, Adam - Matej, Radoslav - Kukal, Jaromir - Johanidesova, Silvie - Rektorová, Irena - Vyhnalek, Martin - Keller, Jiri - Eliášová, Ilona - Parobkova, Eva - Smetakova, Magdalena - Musova, Zuzana - Rusina, Robert PY - 2019 TI - Clinical Variability in P102L Gerstmann-Straussler-Scheinker Syndrome JF - Annals of neurology VL - 86 IS - 5 SP - 643-652 EP - 643-652 PB - John Wiley & Sons SN - 03645134 KW - PRION PROTEIN GENE KW - CREUTZFELDT-JAKOB-DISEASE KW - PHENOTYPIC HETEROGENEITY KW - VARIABLE PHENOTYPE KW - JAPANESE FAMILY KW - MUTATION KW - PRNP KW - INVOLVEMENT KW - CODON-102 KW - DEMENTIA UR - http://dx.doi.org/10.1002/ana.25579 L2 - http://dx.doi.org/10.1002/ana.25579 N2 - Gerstmann-Straussler-Scheinker syndrome (GSS) with the P102L mutation is a rare genetic prion disease caused by a pathogenic mutation at codon 102 in the prion protein gene. Cluster analysis encompassing data from 7 Czech patients and 87 published cases suggests the existence of 4 clinical phenotypes (typical GSS, GSS with areflexia and paresthesia, pure dementia GSS, and Creutzfeldt-Jakob disease-like GSS); GSS may be more common than previously estimated. In making a clinical diagnosis or progression estimates of GSS, magnetic resonance imaging and real-time quaking-induced conversion may be helpful, but the results should be evaluated with respect to the overall clinical context. ER -
TESAR, Adam, Radoslav MATEJ, Jaromir KUKAL, Silvie JOHANIDESOVA, Irena REKTOROVÁ, Martin VYHNALEK, Jiri KELLER, Ilona ELIÁŠOVÁ, Eva PAROBKOVA, Magdalena SMETAKOVA, Zuzana MUSOVA a Robert RUSINA. Clinical Variability in P102L Gerstmann-Straussler-Scheinker Syndrome. \textit{Annals of neurology}. Hoboken: John Wiley \&{} Sons, 2019, roč.~86, č.~5, s.~643-652. ISSN~0364-5134. Dostupné z: https://dx.doi.org/10.1002/ana.25579.
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