作者
Marjan E Steenweg, Adeline Vanderver, Susan Blaser, Alberto Bizzi, Tom J De Koning, Grazia MS Mancini, Wessel N Van Wieringen, Frederik Barkhof, Nicole I Wolf, Marjo S Van Der Knaap
发表日期
2010/10/1
期刊
Brain
卷号
133
期号
10
页码范围
2971-2982
出版商
Oxford University Press
简介
Hypomyelination is observed in the context of a growing number of genetic disorders that share clinical characteristics. The aim of this study was to determine the possible role of magnetic resonance imaging pattern recognition in distinguishing different hypomyelinating disorders, which would facilitate the diagnostic process. Only patients with hypomyelination of known cause were included in this retrospective study. A total of 112 patients with Pelizaeus–Merzbacher disease, hypomyelination with congenital cataract, hypomyelination with hypogonadotropic hypogonadism and hypodontia, Pelizaeus–Merzbacher-like disease, infantile GM1 and GM2 gangliosidosis, Salla disease and fucosidosis were included. The brain scans were rated using a standard scoring list; the raters were blinded to the diagnoses. Grouping of the patients was based on cluster analysis. Ten clusters of patients with similar magnetic …
引用总数
20112012201320142015201620172018201920202021202220232024132321283430152417192313198
学术搜索中的文章