Restricted Diffusion in Vanishing White Matter
نویسندگان
چکیده
منابع مشابه
Restricted diffusion in vanishing white matter.
OBJECTIVE To investigate the occurrence of restricted diffusion in vanishing white matter, the affected structures,the time of occurrence in the disease course, and the histopathologic correlate. DESIGN Retrospective observational study. PATIENTS Forty-six patients with vanishing white matter. SETTING VU University Medical Center. MAIN OUTCOME MEASURES We evaluated all available diffusi...
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Vanishing white matter disease 1 (VWM) is a puzzling leukoencephalopathy caused by mutations in any of the five genes encoding eukaryotic translation initiation factor 2B (eIF2B), an ubiquitously expressed protein complex with a crucial role in initiation of mRNA translation for virtually every protein in the human body. VWM is one of the most prevalent inherited childhood white matter disorder...
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Vanishing white matter disease (VWMD) is an under-diagnosed condition that affects the brains white matter at all ages, especially in the pediatric age group. It belongs to a clinically and genetically heterogeneous group of disorders, collectively known as eukaryotic initiation factor 2B-related disorders. The disorder has been described in different ethnic groups. Here, we describe a case of ...
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Dra. Lucia Maria da Costa Fontenelle – Rua Sorocaba 464 / 302 22271-110 Rio de Janeiro RJ Brasil. E-mail: [email protected] Leukoencephalopathy with vanishing white matter (VWM) has also been called childhood ataxia with central hypomyelination (CACH). VWM was described by van der Knaap et al. in nine children with a leukoencephalopathy of similar type according to clinical and MRI fi...
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ژورنال
عنوان ژورنال: Archives of Neurology
سال: 2012
ISSN: 0003-9942
DOI: 10.1001/archneurol.2011.1658