Neurogenetics: Periodic Paralysis

ying-hui fu's & louis ptáček's
	*laboratories of neurogenetics*

Paroxysmal Dyskinesia Periodic Paralysis Episodic Ataxia Migraine Epilepsy Photic Sneeze Reflex	periodic paralysis The periodic paralyses are a collection of rare disorders characterized by episodic often disabling weakness. ► Hypokalemic Periodic Paralysis ► Hyperkalemic Periodic Paralysis ► Thyrotoxic Periodic Paralysis Thyrotoxic Periodic Paralysis (THPP) usually appears as an acquired, sporadic disorder that resolves with treatments of the underlying thyrotoxicosis. Thyrotoxic periodic paralysis occurs most frequently in Asian adults; as many as 10% of Thyrotoxic Asian males may develop THPP. Our Research Until recently the genetic basis for Thyrotoxic Periodic Paralysis (THPP) was unknown, but a group in Brazil identified the first genetic association with THPP, a mutation in the KCNE3 gene. Our group is working hard to further understand the genetic basis of this disease. We are working to detect new genetic variants predisposing individuals to Thyrotoxic periodic paralysis. ► Andersen-Tawil Syndrome Andersen-Tawil Syndrome (ATS) is a rare inherited disorder characterizedby cardiac arrhythmias, periodic paralysis, and characteristic physical features including low-set ears, clinodactyly (an inward curvature of the fifth finger), widely spaced eyes, a broad forehead, and a poorly developed jaw. The symptoms of this disorder vary from individual to individual and can be subtle. As a result, individuals with mutations in genes causing ATS can have all, some, or (rarely) no features of this disease. Our Research Recently, we discovered that mutations in an ion channel (KCNJ2) are responsible for a majority of ATS cases. However, a large number of families do not contain mutations in KCNJ2 and ATS seems to be caused by mutations in other, unidentified genes. What are the other genes causing ATS? What do these genes do and how can we correct the muscle weakness and arrhythmias? These questions are the current focus of our research. By studying Andersen-Tawil Syndrome we hope to help those suffering from this disease and other forms of periodic paralysis and cardiac arrhythmia. Medical treatment can help severe ATS some patients and recognition of disease is very important in order to monitor serious (potentially fatal) cardiac arrhythmias. Our Laboratories 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. Study Status 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. Contact Kristin Wong, Clinical Coordinator University of California San Francisco Department of Neurology, MC 2922 1550 Fourth St., Room 546 San Francisco, CA 94158-2324 USA Tel: 415-502-3976 Fax: 415-502-5641 Email: kristin.wong2@ucsf.edu
	Quick Links: For more information about Periodic Paralysis, please visit the following sites: Periodic Paralysis Resource Center Periodic Paralysis Organization Muscular Dystrophy Association NINDS Periodic Paralysis Homepage National Organization for Rare Disorders National Society of Genetic Counselors
	circadian rhythm & sleep \| episodic diseases \| neurodegeneration
	UCSF - Department of Neurology, MC 2922 Fu & Ptáček Laboratories 1550 Fourth St., Room 548 San Francisco, CA 94158-2324 USA tel: +1.415.502.5614 fax: +1.415.502.5641
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