نتایج جستجو برای: pantothenate kinase associated neurodegeneration

تعداد نتایج: 1714897  

2011
Chaw-Liang Chang Chih-Ming Lin

An eye-of-the-tiger sign is previously known to have one-to-one correlation with pantothenate kinase-associated neurodegeneration (PKAN). Reviewing the literature on this subject, the correlation between eye-of-the-tiger sign and PKAN seems to show an interesting hypothesis that differs from conventional conclusion. We analyze the published papers in an attempt to reflect this trend and illustr...

2016
Sunil Gothwal Swati Nayan

Hallervorden-Spatz syndrome is a disorder characterized by dystonia, parkinsonism, and iron accumulation in the brain. The disease is caused by mutations in gene encoding pantothenate kinase 2 (PANK2) and patients have pantothenate kinase-associated neurodegeneration. We present an 8-year-old boy with progressive muscle dystonia, neuroregression, frequent fall and multiple injury marks of diffe...

Journal: :The New England journal of medicine 2003
Susan J Hayflick Shawn K Westaway Barbara Levinson Bing Zhou Monique A Johnson Katherine H L Ching Jane Gitschier

BACKGROUND Hallervorden-Spatz syndrome is an autosomal recessive disorder characterized by dystonia, parkinsonism, and iron accumulation in the brain. Many patients with this disease have mutations in the gene encoding pantothenate kinase 2 (PANK2); these patients are said to have pantothenate kinase-associated neurodegeneration. In this study, we compared the clinical and radiographic features...

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