P.378A complex movement disorder associated with myasthenic features: a novel phenotype caused by a homozygous NGLY1 mutation

2019 ◽  
Vol 29 ◽  
pp. S191-S192
Author(s):  
D. Jacquier ◽  
J. Good ◽  
B. Laubscher ◽  
D. Mercati ◽  
E. Roulet-Perez ◽  
...  
2013 ◽  
Vol 2013 ◽  
pp. 1-4
Author(s):  
Muhammed Emin Özcan ◽  
Meriç Adil Altınöz ◽  
Hasan Hüseyin Karadeli ◽  
Talip Asil ◽  
Abdulkadir Koçer

Complex movement disorder is a relatively rare presentation of neurolupus. Antiphospholipid antibodies are associated with movement disorders likely via aberrant neuronal stimulation. Antiribosomal P antibodies have been previously associated with neuropsychiatric disorders but their correlation with movement disorder was not previously established. Our case report involves a 17-year-old Caucasian female patient positive for only antiribosomal P antibody and lupus anticoagulant who presented with a sudden onset of complex movement disorder. After complete cessation of physical signs with olanzapine, anticardiolipin and anti-β2 glycoprotein I antibodies became positive which indicates a likely discordance between movement disorder and antiphospholipid antibodies. This also indicates a potential causal role of antiribosomal P antibodies in inducing movement disorder.


2012 ◽  
Vol 27 (4) ◽  
pp. 591-593
Author(s):  
Christos Ganos ◽  
Simone Zittel ◽  
Christian Gerloff ◽  
Alexander Münchau ◽  
Tobias Bäumer

2012 ◽  
Vol 70 (5) ◽  
pp. 382-383
Author(s):  
Marco A. T. Utiumi ◽  
Renato P. Munhoz ◽  
Caroline Cartaxo ◽  
Hélio A. G. Teive

2015 ◽  
Vol 52 (8) ◽  
pp. 532-540 ◽  
Author(s):  
Curtis R Coughlin ◽  
Gunter H Scharer ◽  
Marisa W Friederich ◽  
Hung-Chun Yu ◽  
Elizabeth A Geiger ◽  
...  

1998 ◽  
Vol 13 (5) ◽  
pp. 848-850 ◽  
Author(s):  
Irene M. Bronner ◽  
Jan A. L. Vanneste

2008 ◽  
Vol 80 (2-3) ◽  
pp. 224-228 ◽  
Author(s):  
Karine Poirier ◽  
Monika Eisermann ◽  
Isabelle Caubel ◽  
Anna Kaminska ◽  
Sylviane Peudonnier ◽  
...  

2020 ◽  
Vol 141 ◽  
pp. 104880 ◽  
Author(s):  
Michela Di Nottia ◽  
Maria Marchese ◽  
Daniela Verrigni ◽  
Christian Daniel Mutti ◽  
Alessandra Torraco ◽  
...  

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