کد مقاله کد نشریه سال انتشار مقاله انگلیسی نسخه تمام متن
3091307 1190356 2006 4 صفحه PDF دانلود رایگان
عنوان انگلیسی مقاله ISI
Neurodegeneration With Brain Iron Accumulation: From Genes to Pathogenesis
موضوعات مرتبط
علوم زیستی و بیوفناوری علم عصب شناسی علوم اعصاب تکاملی
پیش نمایش صفحه اول مقاله
Neurodegeneration With Brain Iron Accumulation: From Genes to Pathogenesis
چکیده انگلیسی

Neurodegeneration with brain iron accumulation comprises a clinically and genetically heterogeneous collection of disorders that share key features. These include progressive neurological disease accompanied by high basal ganglia iron and axonal dystrophy. To date, 2 genetic forms have been associated with mutations in PANK2 and PLA2G6, both of which encode proteins that are critical to membrane integrity. The intersection of pathways perturbed by defects in these 2 genes now enables us to test hypotheses of a common pathogenesis and ask why iron accumulates. The mechanisms implicated may contribute to our understanding of more common neurodegenerative disorders with iron dyshomeostasis, including Parkinson and Alzheimer disease.

ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Seminars in Pediatric Neurology - Volume 13, Issue 3, September 2006, Pages 182–185
نویسندگان
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