Document Detail

Paroxysmal non-kinesigenic dyskinesia caused by the mutation of MR-1 in a large Polish kindred.
MedLine Citation:
PMID:  18948699     Owner:  NLM     Status:  MEDLINE    
Paroxysmal non-kinesigenic dyskinesia (PNKD) is a clinical syndrome of sudden involuntary movements, mostly of dystonic type, which may be triggered by alcohol or coffee intake, stress and fatigue. The attacks of PNKD may consist of various combinations of dystonia, chorea, athetosis and balism. They can be partial and unilateral, but mostly the hyperkinetic movements are bilateral and generalized. We present a large Polish family with 7 symptomatic members of the family in 6 generations. In all affected persons, the onset of clinical symptoms was in early childhood. All male cases showed an increase in severity and frequency of the attacks with ageing, while the only living female patient noticed an improvement of PNKD during both her pregnancies and also after menopause. In addition, at the age of 55 years, she developed symptoms of Parkinson's disease with good response to levodopa treatment.
Andrzej Friedman; Beata Zakrzewska-Pniewska; Izabela Domitrz; Hsien-Yang Lee; Louis Ptacek; Hubert Kwiecinski
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Publication Detail:
Type:  Case Reports; Journal Article     Date:  2008-10-24
Journal Detail:
Title:  European neurology     Volume:  61     ISSN:  1421-9913     ISO Abbreviation:  Eur. Neurol.     Publication Date:  2009  
Date Detail:
Created Date:  2008-12-16     Completed Date:  2009-03-03     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  0150760     Medline TA:  Eur Neurol     Country:  Switzerland    
Other Details:
Languages:  eng     Pagination:  39-41     Citation Subset:  IM    
Copyright Information:
2008 S. Karger AG, Basel.
Department of Neurology, Faculty of Health Science, Medical University in Warsaw, Warsaw, Poland.
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MeSH Terms
Chorea / drug therapy,  genetics*,  physiopathology*
Dopamine Agents / therapeutic use
European Continental Ancestry Group
Levodopa / therapeutic use
Muscle Proteins / genetics*
Reg. No./Substance:
0/Dopamine Agents; 0/Levodopa; 0/Muscle Proteins; 0/PNKD protein, human

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