In the Neurogenetics Clinic in the Department of Neurology three full-time genetic counselors provide services such as genetic testing, education, and counseling for a wide variety of genetic disorders that affect the nervous system. The Neurogenetics Clinic specializes in treating patients and their families who have inherited disorders that have a neurologic component. In addition to evaluation, genetic testing and interpretation of results, we also provide genetic counseling for patients and their families so that they better understand their disease and the implications for everyone in the family. Some of the disorders for which we specialize include Huntington disease, the spinocerebellar ataxias, neurofibromatosis 1, Pelizaeus-Merzbacher disease (PMD), Tuberous Sclerosis, leukodystrophies (hereditary white matter disorders of the central nervous system), lysosomal storage diseases, adrenoleukodystrophy, Freidreich ataxia, and myotonic dystrophy. Comprehensive, dedicated outpatient clinics for patients with Charcot-Marie-Tooth disease and with Muscular Dystrophy have been established, integrating the neurogenetics program with the neuromuscular program. In addition, an international consortium, with WSU as the U.S. coordinating center, has been developed to study patients with Pelizaeus-Merzbacher disease (PMD) and also for Charcot-Marie-Tooth disease. (See earlier under Neuromuscular Diseases).
Counseling and testing for asymptomatic individuals at-risk for adult onset inherited disorders such as Huntington disease or the spinocerebellar ataxias is available. This includes extensive counseling to make sure that a patient has made a careful decision and is prepared to cope with the results and all of their implications. We work closely with the Reproductive Genetics program at Hutzel Women's hospital and can facilitate referrals for those interested in reproductive testing options.
In addition to patient care, the Neurogenetics clinic also serves to try to identify the causes of genetic disorders for which the underlying cause is not known or recently identified. We network with other neurogenetics researchers around the world to assist in research studies that we hope will identify the causes of disorders that are not currently well understood. In the past year we have been successful in helping to identify the causes of several newly recognized hereditary neurological syndromes.