• Something wrong with this record ?

Atypical presentations of DYT1 dystonia with acute craniocervical onset

P. Pavelekova, R. Jech, M. Zech, A. Krepelova, V. Han, A. Mosejova, Z. Liba, D. Urgosik, Z. Gdovinova, P. Havrankova, A. Fecikova, J. Winkelmann, M. Skorvanek

. 2021 ; 83 (-) : 54-55. [pub] 20210113

Language English Country Great Britain

Document type Case Reports, Letter, Research Support, Non-U.S. Gov't

Persistent link   https://www.medvik.cz/link/bmc22004659

DYT1 gene mutations lead to early-onset dystonia that begins with focal limb onset and spreads to other body regions within 5 years, with typical sparing of the oromandibular muscles. In the present study, we describe two patients with an unusual presentation of the disease.

References provided by Crossref.org

000      
00000naa a2200000 a 4500
001      
bmc22004659
003      
CZ-PrNML
005      
20220610100913.0
007      
ta
008      
220113s2021 xxk f 000 0|eng||
009      
AR
024    7_
$a 10.1016/j.parkreldis.2020.12.019 $2 doi
035    __
$a (PubMed)33476878
040    __
$a ABA008 $b cze $d ABA008 $e AACR2
041    0_
$a eng
044    __
$a xxk
100    1_
$a Pavelekova, P $u Department of Neurology, Faculty of Medicine, P. J. Safarik University, Kosice, Slovakia. Electronic address: petra.dosekova@upjs.sk
245    10
$a Atypical presentations of DYT1 dystonia with acute craniocervical onset / $c P. Pavelekova, R. Jech, M. Zech, A. Krepelova, V. Han, A. Mosejova, Z. Liba, D. Urgosik, Z. Gdovinova, P. Havrankova, A. Fecikova, J. Winkelmann, M. Skorvanek
520    9_
$a DYT1 gene mutations lead to early-onset dystonia that begins with focal limb onset and spreads to other body regions within 5 years, with typical sparing of the oromandibular muscles. In the present study, we describe two patients with an unusual presentation of the disease.
650    _2
$a dospělí $7 D000328
650    _2
$a dítě $7 D002648
650    _2
$a dystonia musculorum deformans $x komplikace $x genetika $x patofyziologie $x terapie $7 D004422
650    _2
$a ženské pohlaví $7 D005260
650    _2
$a lidé $7 D006801
650    _2
$a mužské pohlaví $7 D008297
650    _2
$a tortikolis $x etiologie $x genetika $x patofyziologie $x terapie $7 D014103
655    _2
$a kazuistiky $7 D002363
655    _2
$a dopisy $7 D016422
655    _2
$a práce podpořená grantem $7 D013485
700    1_
$a Jech, R $u Department of Neurology and Center of Clinical Neuroscience, First Faculty of Medicine, Charles University and General Faculty Hospital, Prague, Czech Republic
700    1_
$a Zech, M $u Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany; Institute for Human Genetics, Technische Universität München, Munich, Germany
700    1_
$a Krepelova, A $u Department of Biology and Medical Genetics, Second Faculty of Medicine, Charles University and Motol University Hospital, Prague, Czech Republic
700    1_
$a Han, V $u Department of Neurology, Faculty of Medicine, P. J. Safarik University, Kosice, Slovakia; Department of Neurology, University Hospital of L. Pasteur, Kosice, Slovakia
700    1_
$a Lacková, Alexandra, $u Department of Neurology, Faculty of Medicine, P. J. Safarik University, Kosice, Slovakia; Department of Neurology, University Hospital of L. Pasteur, Kosice, Slovakia $d 1993- $7 xx0273781
700    1_
$a Liba, Z $u Department of Paediatric Neurology, Second Faculty of Medicine, Charles University and Motol University Hospital, Prague, Czech Republic
700    1_
$a Urgosik, D $u Department of Stereotactic and Radiation Neurosurgery, Na Homolce Hospital, Prague, Czech Republic
700    1_
$a Gdovinova, Z $u Department of Neurology, Faculty of Medicine, P. J. Safarik University, Kosice, Slovakia; Department of Neurology, University Hospital of L. Pasteur, Kosice, Slovakia
700    1_
$a Havrankova, P $u Department of Neurology and Center of Clinical Neuroscience, First Faculty of Medicine, Charles University and General Faculty Hospital, Prague, Czech Republic
700    1_
$a Fecikova, A $u Department of Neurology and Center of Clinical Neuroscience, First Faculty of Medicine, Charles University and General Faculty Hospital, Prague, Czech Republic
700    1_
$a Winkelmann, J $u Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany; Institute for Human Genetics, Technische Universität München, Munich, Germany; Lehrstuhl für Neurogenetik, Technische Universität München, Munich, Germany; Munich Cluster for Systems Neurology, SyNergy, Munich, Germany
700    1_
$a Skorvanek, M $u Department of Neurology, Faculty of Medicine, P. J. Safarik University, Kosice, Slovakia; Department of Neurology, University Hospital of L. Pasteur, Kosice, Slovakia
773    0_
$w MED00006198 $t Parkinsonism & related disorders $x 1873-5126 $g Roč. 83, č. - (2021), s. 54-55
856    41
$u https://pubmed.ncbi.nlm.nih.gov/33476878 $y Pubmed
910    __
$a ABA008 $b sig $c sign $y p $z 0
990    __
$a 20220113 $b ABA008
991    __
$a 20220610100906 $b ABA008
999    __
$a ok $b bmc $g 1751965 $s 1155808
BAS    __
$a 3
BAS    __
$a PreBMC
BMC    __
$a 2021 $b 83 $c - $d 54-55 $e 20210113 $i 1873-5126 $m Parkinsonism & related disorders $n Parkinsonism Relat Disord $x MED00006198
LZP    __
$a Pubmed-20220113

Find record

Citation metrics

Archiving options