Article
Diffusion tensor imaging of patients with proteolipid protein 1 gene mutations.
Journal of neuroscience research - 1 Dec 2014
Laukka Jeremy J, Makki Malek I, Lafleur Tori, Stanley Jeffrey, Kamholz John, Garbern James Y
Abstract excerpt
Pelizaeus-Merzbacher disease (PMD) is an X-linked disorder of the central nervous system (CNS) caused by a wide variety of mutations affecting proteolipid protein 1 (PLP1). We assessed the effects of PLP1 mutations on water diffusion in CNS white matter by using diffusion tensor imaging. Twelve patients with different PLP1 point mutations encompassing a range of clinical phenotypes were analyzed, and the results...
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