Leukodystrophies and other genetic metabolic leukoencephalopathies in children and adults

被引：14
作者：
Kohlschuetter, Alfried [1 ]
Bley, Annette [1 ]
Brockmann, Knut [2 ]
Gaertner, Jutta [2 ]
Kraegeloh-Mann, Ingeborg [3 ]
Rolfs, Arndt [4 ]
Schoels, Ludger [5 ,6 ]
机构：
[1] Univ Med Ctr Hamburg Eppendorf, Childrens Hosp, D-20246 Hamburg, Germany
[2] Univ Gottingen, Dept Pediat & Pediat Neurol, Gottingen, Germany
[3] Univ Tubingen, Dept Pediat Neurol, D-72074 Tubingen, Germany
[4] Univ Rostock, Ctr Mental Hlth, Albercht Kossel Inst Neuroregenerat, D-2500 Rostock, Germany
[5] Univ Tubingen, Hertie Inst Clin Brain Res, D-72074 Tubingen, Germany
[6] Univ Tubingen, Dept Neurol, D-72074 Tubingen, Germany
来源：
BRAIN & DEVELOPMENT | 2010年 / 32卷 / 02期
关键词：
Genetic brain disease; Inborn error of metabolism; Diagnosis; Neuroradiology; MAGNETIC-RESONANCE-SPECTROSCOPY; SPINAL-CORD INVOLVEMENT; PELIZAEUS-MERZBACHER-DISEASE; AICARDI-GOUTIERES-SYNDROME; SJOGREN-LARSSON-SYNDROME; AUTOSOMAL-DOMINANT LEUKODYSTROPHY; CONGENITAL MUSCULAR-DYSTROPHY; GIANT AXONAL NEUROPATHY; WHITE-MATTER DISEASE; MILD CLINICAL-COURSE;
D O I：
10.1016/j.braindev.2009.03.014
中图分类号：
R74 [神经病学与精神病学];
学科分类号：
摘要：
Abnormalities of CNS white matter are frequently detected in patients with neurological disorders when MRI studies are performed. Among the many causes of such abnormalities, a large group of rare genetic diseases poses considerable diagnostic problems. Here we present a compilation of genetic leukoencephalopathies to consider when one is confronted with white matter disease of possibly genetic origin. The table contains essentials such as age at onset of symptoms, clinical and MRI characteristics, basic defect, and useful diagnostic studies. The table serves as a diagnostic check list. (C) 2009 Elsevier B.V. All rights reserved.
引用
收藏
页码：82 / 89
页数：8
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