Consensus clinical management guideline for pantothenate kinase-associated neurodegeneration (PKAN).
نویسندگان
چکیده
a Department of Molecular & Medical Genetics, Oregon Health & Science University, Portland, USA b Department of Neurology, Oregon Health & Science University, Portland, USA c Molecular Neurosciences, Developmental Neurosciences Programme, UCL Institute of Child Health, London, UK d Department of Physiatry, Children's Healthcare of Atlanta, GA, USA e Department of Child Neurology, The Children's Memorial Health Institute, Warsaw, Poland f NBIA Disorders Association, El Cajon, CA, USA g Hoffunngsbaum e.V., Velbert, Germany h AISNAF – Associazione Italiana Sindromi Neurodegenerative Da Accumulo Di Ferro, Rossano, Italy i Science Compass, Milano, Italy j Department of Neurology, Friedrich-Baur-Institute, Ludwig-Maximilians-University, Munich, Germany k German Center for Neurodegenerative Diseases (DZNE), Munich, Germany l Munich Cluster for Systems Neurology (SyNergy), Munich, Germany m Department of Pediatric Neuroscience, IRCCS Foundation Neurological Institute C. Besta, Milan, Italy
منابع مشابه
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Neurodegeneration with brain iron accumulation is a group of disorders, the commonest of which is PKAN (Pantothenate kinase associated neurodegeneration). We present here, a case of 18 year old boy with progressive dementia, pyramidal and extrapyramidal involvement, dysarthria, seizures and myoclonus. The patient was diagnosed as PKAN (formerly Hallervorden Spatz disease) after "eye of tiger" a...
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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...
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Pantothenate-Kinase-Associated-Neurodegeneration (PKAN) is a devastating disease, resulting from mutations in pantothenate kinase 2 (PANK2), one of the four human pantothenate kinase genes (PANK1-4). Interestingly, PanK2 appears to be the only mitochondria-targeted human PanK. It is unknown whether the mitochondria-targeted PanK is associated with any unique function, nor whether PKAN is due so...
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ورودعنوان ژورنال:
- Molecular genetics and metabolism
دوره 120 3 شماره
صفحات -
تاریخ انتشار 2017