Our work in the Neurogenetics Research Lab is focused on understanding the molecular mechanisms underlying the pathogenesis of human leukodystrophies, which are diseases of the white matter (myelin) of the central nervous system. A primary focus is on Pelizaeus-Merzbacher Disease (PMD) and spastic paraplegia 2 (SPG2), X-linked disorders of myelin formation.
These diseases are caused by several kinds of mutations of the gene for the most abundant protein of myelin, the proteolipid protein 1 gene (PLP1). PMD and SPG2 actually represent a spectrum of disease severities from mild SPG2, which is characterized by hypomyelination and spastic paraparesis, to severe forms of PMD, characterized by almost complete absence of white matter and severe quadriparesis.
Other classic symptoms of PMD include nystagmus, hypotonia, cognitive impairment, head titubations, and ataxia. Since PMD/SPG2 is an X-linked recessive disorder, it predominantly affects males, but female carriers may manifest symptoms of the disease, usually in its milder forms.
The diagnostics lab is the only one in the United States and one of two in the world offering molecular diagnostics for both mutation and duplication of the gene that causes this devastating disease.
One of our research interests is to improve the molecular diagnostics of PMD by refining the molecular techniques. Other research projects are focused on understanding the molecular mechanisms underlying the pathogenesis of PMD.
Learn More About the PMD Foundation