Clinical Variability in P102L Gerstmann-Straussler-Scheinker
Syndrome

J 2019

Clinical Variability in P102L Gerstmann-Straussler-Scheinker Syndrome

TESAR, Adam; Radoslav MATEJ; Jaromir KUKAL; Silvie JOHANIDESOVA; Irena REKTOROVÁ et. al.

Základní údaje

Originální název

Clinical Variability in P102L Gerstmann-Straussler-Scheinker Syndrome

Autoři

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

Vydání

Annals of neurology, Hoboken, John Wiley & Sons, 2019, 0364-5134

Další údaje

Jazyk

angličtina

Typ výsledku

Článek v odborném periodiku

Obor

30103 Neurosciences

Stát vydavatele

Spojené státy

Utajení

není předmětem státního či obchodního tajemství

Odkazy

URL

Impakt faktor

Impact factor: 9.037

Kód RIV

RIV/00216224:14110/19:00111745

Organizační jednotka

Lékařská fakulta

DOI

https://doi.org/10.1002/ana.25579

UT WoS

000490325800002

EID Scopus

2-s2.0-85071749084

Klíčová slova anglicky

PRION PROTEIN GENE; CREUTZFELDT-JAKOB-DISEASE; PHENOTYPIC HETEROGENEITY; VARIABLE PHENOTYPE; JAPANESE FAMILY; MUTATION; PRNP; INVOLVEMENT; CODON-102; DEMENTIA

Štítky

14110127, podil, rivok

Příznaky

Mezinárodní význam, Recenzováno

Změněno: 31. 3. 2020 22:12, Mgr. Pavla Foltynová, Ph.D.

Anotace

V originále

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.

Citovat

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://doi.org/10.1002/ana.25579.

@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 = {https://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://doi.org/10.1002/ana.25579.

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