Genetic linkage studies are underway in familial diurnally variant dystonia associated with low CSF biopterin levels and a beneficial effect of supplemental biopterin has been documented. Corrective therapy has been developed for autonomic nervous system dysfunction associated with Fabry's disease. The incidence of seizures and cataplexy has been determined in patients with Type C Niemann-Pick disease. The effect of modifying dietary cholesterol and the responses of patients to drugs that alter cholesterol synthesis are under investigation in this disorder. A novel neurologic syndrome consisting of hyperprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa and pallidal degeneration (HARP Syndrome) has been identified. A late onset form of globoid cell leukodystrophy has been characterized.
