![](/images/graphics-bg.png)
A Novel Mutation in the EIF2B4 Gene Associated with Leukoencephalopathy with Vanishing White Matter
المؤلفون المشاركون
Hettiarachchi, D.
Pathirana, B. A. P. S.
Neththikumara, N.
Padeniya, A.
Dissanayake, Vajira H. W.
المصدر
العدد
المجلد 2018، العدد 2018 (31 ديسمبر/كانون الأول 2018)، ص ص. 1-4، 4ص.
الناشر
Hindawi Publishing Corporation
تاريخ النشر
2018-07-05
دولة النشر
مصر
عدد الصفحات
4
التخصصات الرئيسية
الملخص EN
Leukoencephalopathy with vanishing white matter (VWM; MIM #603896) is an autosomal recessive disorder, characterized by childhood ataxia, spasticity, and variable optic atrophy.
The course is chronic progressive with episodes of rapid deterioration, provoked by febrile illnesses, minor head trauma, or acute fright, with most patients succumbing to illness within few years of onset.
Three forms of VWM has been described based on disease onset, which ranges from a subacute infantile form (onset age <1 year), an early childhood form (onset age 1–5 years), and a late-childhood/juvenile form (onset age 5–15 years) [1–3].
The diagnosis is based on clinical findings, characteristic MRI features indicative of vanishing of the cerebral white matter, and an identifiable pathogenic variant in one of the genes (EIF2B1, EIF2B2, EIF2B3, EIF2B4, and EIF2B5) encoding for the 5 subunits of eukaryotic translation initiation factor 2B (eIF2B), which is essential in all cells of the body for the initiation of translation of RNA into protein during protein synthesis and its regulation under different stress conditions such as fever [4, 5].
Its effect is predominantly seen on oligodendrocytes and astrocytes while there is sparing of other cell types [2].
نمط استشهاد جمعية علماء النفس الأمريكية (APA)
Hettiarachchi, D.& Neththikumara, N.& Pathirana, B. A. P. S.& Padeniya, A.& Dissanayake, Vajira H. W.. 2018. A Novel Mutation in the EIF2B4 Gene Associated with Leukoencephalopathy with Vanishing White Matter. Case Reports in Pediatrics،Vol. 2018, no. 2018, pp.1-4.
https://search.emarefa.net/detail/BIM-1149032
نمط استشهاد الجمعية الأمريكية للغات الحديثة (MLA)
Hettiarachchi, D.…[et al.]. A Novel Mutation in the EIF2B4 Gene Associated with Leukoencephalopathy with Vanishing White Matter. Case Reports in Pediatrics No. 2018 (2018), pp.1-4.
https://search.emarefa.net/detail/BIM-1149032
نمط استشهاد الجمعية الطبية الأمريكية (AMA)
Hettiarachchi, D.& Neththikumara, N.& Pathirana, B. A. P. S.& Padeniya, A.& Dissanayake, Vajira H. W.. A Novel Mutation in the EIF2B4 Gene Associated with Leukoencephalopathy with Vanishing White Matter. Case Reports in Pediatrics. 2018. Vol. 2018, no. 2018, pp.1-4.
https://search.emarefa.net/detail/BIM-1149032
نوع البيانات
مقالات
لغة النص
الإنجليزية
الملاحظات
Includes bibliographical references
رقم السجل
BIM-1149032
قاعدة معامل التأثير والاستشهادات المرجعية العربي "ارسيف Arcif"
أضخم قاعدة بيانات عربية للاستشهادات المرجعية للمجلات العلمية المحكمة الصادرة في العالم العربي
![](/images/ebook-kashef.png)
تقوم هذه الخدمة بالتحقق من التشابه أو الانتحال في الأبحاث والمقالات العلمية والأطروحات الجامعية والكتب والأبحاث باللغة العربية، وتحديد درجة التشابه أو أصالة الأعمال البحثية وحماية ملكيتها الفكرية. تعرف اكثر
![](/images/kashef-image.png)