We are focused on studying genetic disorders of brain, nerve & muscle. Through better understanding of neurological disorders will come better diagnoses and treatments.
ying-hui fu's & louis ptáček's
|laboratories of neurogenetics|
Paroxysmal dyskinesias are neurologic conditions characterized by sudden episodes of abnormal involuntary movements (hyperkinesias). These may include any combination of involuntary, rapid, randomly irregular jerky movements (chorea); relatively slow, writhing motions that appear to flow into one another (athetosis); increased muscle tone with repetitive, twisting, patterned movements and distorted posturing (dystonia); and uncontrollable flinging movements of an arm, a leg, or both (ballismus). The term paroxysmal indicates that the abnormal movements are sudden and unpredictable, with a relatively rapid return to normal motor function and behavior.
Paroxysmal dyskinesias are often classified into paroxysmal kinesigenic dyskinesia (PKD) and paroxysmal non-kinesigenic dyskinesia (PNKD), based upon precipitating factors that precede or trigger the episodes of abnormal, involuntary movement. In patients with PKD the episodes of hyperkinetic movements are provoked by sudden voluntary movement or unexpected stimuli (startle). In contrast, in those with non-kinesigenic dyskinesia, the attacks may occur spontaneously while at rest or out of a background of normal motor activity, but may be exacerbated by alcohol or caffeine consumption, stress, fatigue, or other factors. Other types of paroxysmal dyskinesias include episodes precipitated by prolonged exertion (paroxysmal exertion-induced dyskinesia) or sleep (paroxysmal hypnogenic dyskinesia).
We have localized genes causing familial PNKD and PKD to chromosome 2q and chromosome 16cen respectively. The focus of our research is on the identification of the disease-causing genes for PNKD and PKD. Detection of these genes and study of the encoded proteins will result in a greater insight into paroxysmal dyskinesias and other episodic disorders of the nervous system.
Sometimes, symptoms caused by other medical conditions can mimic the effect of genetic mutations. In such cases, diagnosis and treatment of the condition is most effectively provided through traditional medical channels. Academic research laboratories such as ours do not usually provide these services; rather we are focused on genetic discoveries we hope will lead to defining these future diagnostic and treatment pathways.
If you believe that you or a family member may qualify and would be interested in participating in this study, please contact the Clinical Coordinator listed below.
What Does Study Participation Involve?
1. As an initial screening process, you will be asked to fill out a questionnaire describing your family disease history. This questionnaire is used to help researchers assess your medical condition.
2. If your condition appears to match the condition currently under study, you may be asked to submit additional information, including medical records and/or test results that will be used in the medical evaluation.
3. You will be asked to donate a blood sample (approximately 2-3 tablespoons) which we will use to isolate the DNA that we study.
Kristin Wong, Clinical Coordinator
University of California San Francisco
Department of Neurology, MC 2922
1550 Fourth St., Room 546
San Francisco, CA 94158-2324
For more information, please visit the following sites:
UCSF - Department of Neurology,
1550 Fourth St., Room 548
San Francisco, CA 94158-2324
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