Neurogenetics Program

Advances in genetics are changing the understanding and practice of neurology. The goals of the Neurogenetics program are: to offer clinical evaluation for neurologic disorders with a genetic etiology by use of specialized genetic testing, to provide genetic counseling, to train residents to evaluate neurogenetic conditions, and to carry out clinical and basic research in neurogenetic disorders. The Neurogenetics Clinic is held one half a day per week. All patients are seen personally by Dr. Hisama, who is one of the few neurologists in the country who is also board-certified in Medical Genetics. This is a quaternary referral clinic for the genetic evaluation of difficult to diagnose (primarily adult-onset) neurologic conditions. The clinic is intended for specialized evaluation rather than longitudinal follow-up.

Relevant Publications

Fertig E, Lincoln A, Mattson RH, Hisama FM. New LGI1 missense mutation causes autosomal dominant partial epilepsy with auditory features. Submitted.

Hisama FM, Lee HH, Vashlishan A, Tekumalla P, Russell DS, Auld E, Goldstein JM. Clinical and molecular studies in a family with probable X-linked dominant Charcot-Marie-Tooth disease involving the central nervous system. Archives of Neurology, vol 58:1891-1896, 2001.

Hisama FM, Zemel S, Cherniske E, Vladutiu G, and Pober, BR. 46, XX gonadal dysgenesis, short stature and recurrent metabolic acidosis in two sisters: a new syndrome. American J of Med Genet, vol 98:121-124, 2001.

Hisama, Fuki M., and Schellenberg, Gerard D. Progress in molecular genetics of Alzheimer's disease. The Neuroscientist (review) vol 2:3-5; 1996.

Appointments
To make a referral to the Neurogenetics Clinic call:
(203) 737-2498.

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