Detail
Článek
Článek online
FT
Medvik - BMČ
  • Je něco špatně v tomto záznamu ?

Gerstmann-Sträussler-Scheinker syndrome with the P102L pathogenic mutation presenting as familial Creutzfeldt-Jakob disease: a case report and review of the literature

Robert Rusina, Jindřich Fiala, Karel Holada, Milada Matějčková, Jana Nováková, Radek Ampapa, František Koukolík, Radoslav Matěj

. 2013 ; 19 (1) : 41-53.

Jazyk angličtina Země Anglie, Velká Británie

Typ dokumentu kazuistiky, časopisecké články, práce podpořená grantem

Perzistentní odkaz   https://www.medvik.cz/link/bmc13031930

Grantová podpora
NS10335 MZ0 CEP - Centrální evidence projektů

Gerstmann-Sträussler-Scheinker syndrome is a rare autosomal dominant disease caused by a mutation in the prion gene, usually manifesting as progressive ataxia with late cognitive decline. A 44-year-old woman with a positive family history developed early personality and behavior changes, followed by paresthesias and ataxia, later associated with memory problems, pyramidal signs, anosognosia and very late myoclonus, spasticity, and severe dysexecutive impairment. Magnetic resonance showed caudate, mesio-frontal, and insular hyper-intensities, electroencephalography revealed generalized triphasic periodic complexes. A pathogenic P102L mutation in the prion gene was detected. Our case differed from classical Gerstmann-Sträussler-Scheinker syndrome by rapid progression, severe dementia, abnormal electroencephalography and magnetic resonance findings, which were highly suggestive of familial Creutzfeldt-Jakob disease.

Citace poskytuje Crossref.org

000      
00000naa a2200000 a 4500
001      
bmc13031930
003      
CZ-PrNML
005      
20180518104120.0
007      
ta
008      
131002s2013 enk f 000 0|eng||
009      
AR
024    7_
$a 10.1080/13554794.2011.654215 $2 doi
035    __
$a (PubMed)22494260
040    __
$a ABA008 $b cze $d ABA008 $e AACR2
041    0_
$a eng
044    __
$a enk
100    1_
$a Rusina, Robert $u Department of Neurology, Thomayer Teaching Hospital and Institute for Postgraduate Education in Medicine, Prague, Czech Republic. robert.rusina@ftn.cz
245    10
$a Gerstmann-Sträussler-Scheinker syndrome with the P102L pathogenic mutation presenting as familial Creutzfeldt-Jakob disease: a case report and review of the literature / $c Robert Rusina, Jindřich Fiala, Karel Holada, Milada Matějčková, Jana Nováková, Radek Ampapa, František Koukolík, Radoslav Matěj
520    9_
$a Gerstmann-Sträussler-Scheinker syndrome is a rare autosomal dominant disease caused by a mutation in the prion gene, usually manifesting as progressive ataxia with late cognitive decline. A 44-year-old woman with a positive family history developed early personality and behavior changes, followed by paresthesias and ataxia, later associated with memory problems, pyramidal signs, anosognosia and very late myoclonus, spasticity, and severe dysexecutive impairment. Magnetic resonance showed caudate, mesio-frontal, and insular hyper-intensities, electroencephalography revealed generalized triphasic periodic complexes. A pathogenic P102L mutation in the prion gene was detected. Our case differed from classical Gerstmann-Sträussler-Scheinker syndrome by rapid progression, severe dementia, abnormal electroencephalography and magnetic resonance findings, which were highly suggestive of familial Creutzfeldt-Jakob disease.
650    _2
$a dospělí $7 D000328
650    _2
$a mozek $x patologie $7 D001921
650    _2
$a Creutzfeldtova-Jakobova nemoc $x genetika $x psychologie $7 D007562
650    _2
$a difuzní magnetická rezonance $7 D038524
650    _2
$a elektroencefalografie $7 D004569
650    _2
$a fatální výsledek $7 D017809
650    _2
$a ženské pohlaví $7 D005260
650    _2
$a neurologické poruchy chůze $x etiologie $7 D020233
650    _2
$a Gerstmannova-Strausslerova-Scheinkerova nemoc $x genetika $x psychologie $7 D016098
650    _2
$a lidé $7 D006801
650    _2
$a počítačové zpracování obrazu $7 D007091
650    _2
$a magnetická rezonanční tomografie $7 D008279
650    _2
$a paměť $x fyziologie $7 D008568
650    _2
$a mutace $x genetika $x fyziologie $7 D009154
650    _2
$a neuropsychologické testy $7 D009483
650    _2
$a poruchy osobnosti $x etiologie $x psychologie $7 D010554
650    _2
$a priony $x genetika $7 D011328
650    _2
$a psychomotorický výkon $x fyziologie $7 D011597
650    _2
$a cévní mozková příhoda $x komplikace $7 D020521
655    _2
$a kazuistiky $7 D002363
655    _2
$a časopisecké články $7 D016428
655    _2
$a práce podpořená grantem $7 D013485
700    1_
$a Fiala, Jindřich $u Department of Neurology, Thomayer Teaching Hospital and Institute for Postgraduate Education in Medicine, Prague, Czech Republic
700    1_
$a Holada, Karel $u Institute of Immunology and Microbiology, First Faculty of Medicine, Charles University in Prague, Prague, Czech Republic
700    1_
$a Matějčková, Milada $u Department of Pathology and Molecular Medicine, Thomayer Teaching Hospital, Prague, Czech Republic
700    1_
$a Nováková, Jana $u Department of Pathology and Molecular Medicine, Thomayer Teaching Hospital, Prague, Czech Republic
700    1_
$a Ampapa, Radek $7 mzk2018987225 $u Department of Neurology, Hospital of Jihlava, Jihlava, Czech Republic
700    1_
$a Koukolík, František $u Department of Pathology and Molecular Medicine, Thomayer Teaching Hospital, Prague, Czech Republic
700    1_
$a Matěj, Radoslav $u Department of Pathology and Molecular Medicine, Thomayer Teaching Hospital, Prague, Czech Republic
773    0_
$w MED00003482 $t Neurocase $x 1465-3656 $g Roč. 19, č. 1 (2013), s. 41-53
856    41
$u https://pubmed.ncbi.nlm.nih.gov/22494260 $y Pubmed
910    __
$a ABA008 $b sig $c sign $y a $z 0
990    __
$a 20131002 $b ABA008
991    __
$a 20180518104258 $b ABA008
999    __
$a ok $b bmc $g 996017 $s 830375
BAS    __
$a 3
BAS    __
$a PreBMC
BMC    __
$a 2013 $b 19 $c 1 $d 41-53 $i 1465-3656 $m Neurocase $n Neurocase $x MED00003482
GRA    __
$a NS10335 $p MZ0
LZP    __
$a Pubmed-20131002

Najít záznam

Citační ukazatele

Možnosti archivace