Jeremy J Laukka

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OBJECTIVE To determine whether quantitative measure of magnetic resonance imaging data from patients with the inherited leukodystrophy, Pelizaeus-Merzbacher disease (PMD) correlates with clinical severity or progression. METHODS In our current work we have analyzed the clinical phenotypes and MRI scans of 51 male patients with PMD and 10 female carriers(More)
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(More)
Pelizaeus-Merzbacher disease (PMD) is an X-linked inherited hypomyelinating disorder caused by mutations in the gene encoding proteolipid protein (PLP), the major structural protein in central nervous system (CNS) myelin. Prior to our study, whether hypomyelination in PMD was caused by demyelination, abnormally thin sheaths or failure to form myelin was(More)
More than a century ago, in 1885 Friedrich Pelizaeus, a German Physician first identified a genetic disorder in five boys in a single family with nystagmus, spasticity of the limbs and developmental delay [1]. Twenty-five years later in 1910, Ludwig Merzbacher independently reexamined this family and described further the neuropathology of 14 affected(More)
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