We have continued our characterization of neurogenetic disorders including patients with childhood ataxia with diffuse central nervous system hypomyelination (CACH Syndrome) and another known as ovarioleukodystrophy. We also studied mucolipidosis type IV. We have characterized this disease clinically, found novel diagnostic methods and are working on pathogenesis of this disorder. We shall identify the genes that are mutated in patients with these conditions. We have extended our studies on novel clinical markers of Fabry disease. Among these investigations are longitudinal MRI examinations of the brain with particular regard to quantitating the status of the cerebral blood vessels. We completed a study on small unmyelinated nerve fibers in the skin of patients with this disorder. These parameters, and other related clinical studies in patients with Fabry disease, are important as outcome markers to assess responses to enzyme replacement and gene therapy in patients with this hereditary metabolic disorder.
