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Intracranial abnormalities detected by three‐dimensional magnetic resonance imaging in Prader–Willi syndrome

Intracranial abnormalities detected by three‐dimensional magnetic resonance imaging in... The neuropathologic abnormalities associated with Prader–Willi syndrome (PWS) are largely unknown. PWS is due to the loss of several paternally expressed genes in chromosome 15q11‐q13 region. Several of the imprinted genes in the 15q11‐q13 region are normally expressed in the brain and thought to be necessary for neuronal growth and development. Thus, we hypothesized that we would find abnormalities in gray and white matter growth in individuals with PWS. We evaluated three‐dimensional (3‐D) MRI scans of 20 individuals with PWS, aged three months to 39 years, and compared them to 3‐D MRI scans of 21 normal weight sibling controls and 16 individuals with early‐onset morbid obesity (EMO) of unknown etiology. The interpreters of the scans were blinded to the diagnosis of the subjects. Intracranial abnormalities in individuals with PWS included ventriculomegaly (100% of individuals), decreased volume of brain tissue in the parietal‐occipital lobe (50%), sylvian fissure polymicrogyria (60%), and incomplete insular closure (65%). None of the EMO or normal weight control subjects had any of these findings. We found multiple morphologic brain abnormalities in subjects with PWS suggesting that the loss of paternally expressed genes in chromosome 15q11‐q13 region may result in abnormalities of neuronal development. The specific mechanisms underlying these neuropathological abnormalities and their correlation with the clinical phenotype remain to be elucidated. © 2006 Wiley‐Liss, Inc. http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png American Journal of Medical Genetics Part A Wiley

Intracranial abnormalities detected by three‐dimensional magnetic resonance imaging in Prader–Willi syndrome

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References (47)

Publisher
Wiley
Copyright
Copyright © 2007 Wiley Subscription Services, Inc., A Wiley Company
ISSN
1552-4825
eISSN
1552-4833
DOI
10.1002/ajmg.a.31508
pmid
17103438
Publisher site
See Article on Publisher Site

Abstract

The neuropathologic abnormalities associated with Prader–Willi syndrome (PWS) are largely unknown. PWS is due to the loss of several paternally expressed genes in chromosome 15q11‐q13 region. Several of the imprinted genes in the 15q11‐q13 region are normally expressed in the brain and thought to be necessary for neuronal growth and development. Thus, we hypothesized that we would find abnormalities in gray and white matter growth in individuals with PWS. We evaluated three‐dimensional (3‐D) MRI scans of 20 individuals with PWS, aged three months to 39 years, and compared them to 3‐D MRI scans of 21 normal weight sibling controls and 16 individuals with early‐onset morbid obesity (EMO) of unknown etiology. The interpreters of the scans were blinded to the diagnosis of the subjects. Intracranial abnormalities in individuals with PWS included ventriculomegaly (100% of individuals), decreased volume of brain tissue in the parietal‐occipital lobe (50%), sylvian fissure polymicrogyria (60%), and incomplete insular closure (65%). None of the EMO or normal weight control subjects had any of these findings. We found multiple morphologic brain abnormalities in subjects with PWS suggesting that the loss of paternally expressed genes in chromosome 15q11‐q13 region may result in abnormalities of neuronal development. The specific mechanisms underlying these neuropathological abnormalities and their correlation with the clinical phenotype remain to be elucidated. © 2006 Wiley‐Liss, Inc.

Journal

American Journal of Medical Genetics Part AWiley

Published: Jan 1, 2007

Keywords: ; ;

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