Neurogenetics: Spinocerebellar Ataxia (SCA)

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

	spinocerebellar ataxia The hereditary ataxias are a group of genetic disorders producing slowly progressive incoordination of gait and often associated with poor coordination of hands, speech, and eye movements. Ataxia may result from dysfunction of the cerebellum and its associated systems, lesions in the spinal cord, peripheral sensory loss, or any combination of these three conditions. In some families with SCA, there is an associated retinal or peripheral nerve degeneration that can lead to blindness or neuropathy which is the case in SCA7 and SCA4 respectively. SCA4 is distinct from other SCAs because the neuropathy is frequently the earliest sign of the disease and is always found in affected individuals. Patients with SCA 4 may not be able to sense their position when they have their eyes closed resulting in unsteadiness. Reflexes are absent in many patients and there is decreased sensation to touch. Our Research All but two of the genes predisposing individuals to SCA that have been identified so far are caused by polyglutamine tract expansions. In individuals with expanded alleles, CAG repeat length correlates with disease progression and severity. These findings have led to the hypothesis that expanded polyQ tracts may be toxic to cells in the CNS. The disease-causing gene for SCA4 has been linked to chromosome 16q22.1 and we are working very hard to clone the gene. 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 At the present time, we are actively collecting sample for SCA4; 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. We are not actively collecting samples of SCA7 at this time. However, research directions change with every new discovery. If you would like to be considered for future research studies with SCA7, please contact the Clinical Coordinator listed below. What Does Study Participation Involve? 1. As an initial screening process, you will be asked to provide information describing your family disease history. This information 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. In families where nerve problems cause degenerative sensation on the hands and feet, this may include a nerve test called nerve conduction, which involves taping wires to the skin of the hands and feet, stimulating the nerves to measure how well the nerves are working. 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: +1.415.502.3976 Fax: +1.415.502.5641 Email: kristin.wong2@ucsf.edu
	Quick Links: For more information about Ataxias, please visit the following sites: National Ataxia Foundation Neuromuscular Disease Center National Organization for Rare Disorders National Institute of Neurological Disorders & Stroke 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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