Consensus clinical management guideline for pantothenate kinase-associated neurodegeneration (PKAN).

نویسندگان

  • Penelope Hogarth
  • Manju A Kurian
  • Allison Gregory
  • Barbara Csányi
  • Tamara Zagustin
  • Tomasz Kmiec
  • Patricia Wood
  • Angelika Klucken
  • Natale Scalise
  • Francesca Sofia
  • Thomas Klopstock
  • Giovanna Zorzi
  • Nardo Nardocci
  • Susan J Hayflick
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

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Deep Brain Stimulation for Pantothenate Kinase-Associated Neurodegeneration

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Eye-of-the-Tiger sign is not Pathognomonic of Pantothenate Kinase-Associated Neurodegeneration in Adult Cases

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: insights from a Drosophila model.

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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عنوان ژورنال:
  • Molecular genetics and metabolism

دوره 120 3  شماره 

صفحات  -

تاریخ انتشار 2017