好色先生

好色先生

Explore the latest content from across our publications
Join The AAN

Log In

Forgot Password?
Create New Account

Loading... please wait

Abstract Details

Radial Diffusion Is Increased in Patients with Pelizaeus-Merzbacher Disease
Child Neurology/Developmental Neurobiology
P02 - (-)
089
BACKGROUND: In order to assess the effects of PLP1 mutations on both myelin and axons, we chose six white matter tracts for analysis in PMD patients with a variety of PLP1 mutations and clinical phenotypes. Twelve patients, ranging in age from 2 to 45 years, were analyzed by DT-MRI. The results were compared to a group of 17 age-matched controls and correlated to disease severity.
DESIGN/METHODS: Radial and parallel diffusivities, apparent diffusion coefficient (ADC), and fractional anisotropy (FA) were measured in the anterior limb of the internal capsule, posterior limb of the internal capsule, genu of the corpus callosum, splenium of the corpus callosum, base of the pons, and cerebral peduncles.
RESULTS: We found a significant difference in radial diffusion between PMD patients and age-matched controls, most prominent in the corpus callosum and in patients with PLP1 mutations causing a PLP1-null phenotype.
CONCLUSIONS: Our data suggest that PLP1 mutations result in increased water diffusion and increased exposure of myelinated axons to the extracellular environment, further contributing to the pathogenesis of PMD.
Authors/Disclosures
Tori A. LaFleur, MD
PRESENTER 		No disclosure on file
John A. Kamholz, MD Dr. Kamholz has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Guidepoint. The institution of Dr. Kamholz has received research support from HDSA.
No disclosure on file
No disclosure on file
No disclosure on file
No disclosure on file
No disclosure on file
No disclosure on file
David H. Margolin, MD, PhD (Genzyme Corporation) Dr. Margolin has received personal compensation for serving as an employee of uniQure, Inc.. Dr. Margolin has stock in Cerevance, Inc. Dr. Margolin has stock in Datacubed Health. Dr. Margolin has stock in uniQure, Inc.. Dr. Margolin has received intellectual property interests from a discovery or technology relating to health care.