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We are focused on studying genetic disorders of brain, nerve & muscle. Through better understanding of neurological disorders will come better diagnoses and treatments. |
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ying-hui fu's & louis ptáček's |
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autosomal dominant leukodystrophy Leukodystrophy refers to a group of genetic disorders that are characterized by the imperfect development or maintenance of the white matter (myelin sheath covering nerve fibers in the brain). Adult-onset autosomal dominant leukodystrophy (ADLD), is a slowly progressive, neurological disorder characterized by symmetrical widespread myelin loss in the CNS. The ADLD phenotype is similar to that of chronic progressive multiple sclerosis (MS). It is characterized by development of autonomic dysfunction e.g. (low blood pressure, incontinence, and blurred vision). In contrast to MS patients, ADLD sufferers experience earlier autonomic dysfunction. CT scans/MRIs of ADLD patients illustrate the widespread symmetrical demyelination that occurs, as opposed to the asymmetrical demyelination exhibited in MS. In addition, large families segregating a highly penetrant autosomal dominant MS allele have not been described. Our Research Linkage analysis has already localized ADLD to chromosome 5q31 and we hope to isolate the ADLD gene through fine genetic mapping. ADLD represents a model for monogenic demyelination, and identification of the ADLD gene and its encoded protein could provide further insight into the molecular mechanisms of myelin assembly and maintenance. Therefore the study of this disorder could enhance our understanding of the pathogenesis of non-Mendelian demyelinating diseases such as MS and may provide novel therapeutic targets for development of new treatments. 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: +1.415.502.3976 Fax: +1.415.502.5641 Email: kristin.wong2@ucsf.edu |
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Quick Links: For more information about Leukodystrophies, please visit the following sites: United Leukodystrophy Foundation National Organization for Rare Disorders |
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circadian rhythm & sleep | episodic diseases | neurodegeneration |
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UCSF - Department of Neurology,
MC 2922 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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If you experience any difficulties with this site, please email our web developer. The University of California, San Francisco, CA 94143, +1.415.476.9000 Copyright © 2004-2006 The Regents of the University of California. All Rights Reserved. |
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