Susan J Hayflick

Summary

Affiliation: Oregon Health and Science University
Country: USA

Publications

  1. ncbi request reprint Unraveling the Hallervorden-Spatz syndrome: pantothenate kinase-associated neurodegeneration is the name
    Susan J Hayflick
    Molecular and Medical Genetics, Pediatrics and Neurology, Oregon Health and Science University, Portland, Oregon 97239
    Curr Opin Pediatr 15:572-7. 2003
  2. pmc β-Propeller protein-associated neurodegeneration: a new X-linked dominant disorder with brain iron accumulation
    Susan J Hayflick
    Department of Molecular and Medical Genetics, Oregon Health and Science University, Portland, OR 97239, USA
    Brain 136:1708-17. 2013
  3. pmc New NBIA subtype: genetic, clinical, pathologic, and radiographic features of MPAN
    Penelope Hogarth
    Department of Neurology, Oregon Health and Science University, Portland, USA
    Neurology 80:268-75. 2013
  4. pmc Novel histopathologic findings in molecularly-confirmed pantothenate kinase-associated neurodegeneration
    Michael C Kruer
    Division of Developmental Paediatrics, Child Development and Rehabilitation Centre, Oregon Health and Science University, Portland, OR 97239, USA
    Brain 134:947-58. 2011
  5. ncbi request reprint Genetic, clinical, and radiographic delineation of Hallervorden-Spatz syndrome
    Susan J Hayflick
    Department of Molecular and Medical Genetics, School of Medicine, Oregon Health and Science University, Portland, OR 97201 3098, USA
    N Engl J Med 348:33-40. 2003
  6. ncbi request reprint Gene symbol: PANK2. Disease: pantothenate kinase-associated neurodegeneration (PKAN)
    Shawn K Westaway
    Department of Molecular and Medical Genetics, Oregon Health and Science University, Portland 97239, USA
    Hum Genet 119:672. 2006
  7. ncbi request reprint Gene symbol: PANK2. Disease: pantothenate kinase-associated neurodegeneration (PKAN)
    Shawn K Westaway
    Department of Molecular and Medical Genetics, Oregon Health and Science University, Portland 97239, USA
    Hum Genet 119:673. 2006
  8. ncbi request reprint Gene symbol: PANK2. Disease: pantothenate kinase-associated neurodegeneration (PKAN)
    Shawn K Westaway
    Department of Molecular and Medical Genetics, Oregon Health and Science University, Portland 97239, USA
    Hum Genet 119:678. 2006
  9. ncbi request reprint Gene symbol: PANK2. Disease: pantothenate kinase-associated neurodegeneration (PKAN)
    Shawn K Westaway
    Department of Molecular and Medical Genetics, Oregon Health and Science University, Portland 97239, USA
    Hum Genet 119:678. 2006
  10. ncbi request reprint Gene symbol: PANK2. Disease: pantothenate kinase-associated neurodegeneration (PKAN)
    Shawn K Westaway
    Department of Molecular and Medical Genetics, Oregon Health and Science University, Portland 97239, USA
    Hum Genet 119:678. 2006

Collaborators

Detail Information

Publications32

  1. ncbi request reprint Unraveling the Hallervorden-Spatz syndrome: pantothenate kinase-associated neurodegeneration is the name
    Susan J Hayflick
    Molecular and Medical Genetics, Pediatrics and Neurology, Oregon Health and Science University, Portland, Oregon 97239
    Curr Opin Pediatr 15:572-7. 2003
    ....
  2. pmc β-Propeller protein-associated neurodegeneration: a new X-linked dominant disorder with brain iron accumulation
    Susan J Hayflick
    Department of Molecular and Medical Genetics, Oregon Health and Science University, Portland, OR 97239, USA
    Brain 136:1708-17. 2013
    ....
  3. pmc New NBIA subtype: genetic, clinical, pathologic, and radiographic features of MPAN
    Penelope Hogarth
    Department of Neurology, Oregon Health and Science University, Portland, USA
    Neurology 80:268-75. 2013
    ..To assess the frequency of mutations in C19orf12 in the greater neurodegeneration with brain iron accumulation (NBIA) population and further characterize the associated phenotype...
  4. pmc Novel histopathologic findings in molecularly-confirmed pantothenate kinase-associated neurodegeneration
    Michael C Kruer
    Division of Developmental Paediatrics, Child Development and Rehabilitation Centre, Oregon Health and Science University, Portland, OR 97239, USA
    Brain 134:947-58. 2011
    ..In so doing, we characterize fundamental features of the disease and redefine its nosological relationship to other neurodegenerative disorders...
  5. ncbi request reprint Genetic, clinical, and radiographic delineation of Hallervorden-Spatz syndrome
    Susan J Hayflick
    Department of Molecular and Medical Genetics, School of Medicine, Oregon Health and Science University, Portland, OR 97201 3098, USA
    N Engl J Med 348:33-40. 2003
    ..In this study, we compared the clinical and radiographic features of patients with Hallervorden-Spatz syndrome with and without mutations in PANK2...
  6. ncbi request reprint Gene symbol: PANK2. Disease: pantothenate kinase-associated neurodegeneration (PKAN)
    Shawn K Westaway
    Department of Molecular and Medical Genetics, Oregon Health and Science University, Portland 97239, USA
    Hum Genet 119:672. 2006
  7. ncbi request reprint Gene symbol: PANK2. Disease: pantothenate kinase-associated neurodegeneration (PKAN)
    Shawn K Westaway
    Department of Molecular and Medical Genetics, Oregon Health and Science University, Portland 97239, USA
    Hum Genet 119:673. 2006
  8. ncbi request reprint Gene symbol: PANK2. Disease: pantothenate kinase-associated neurodegeneration (PKAN)
    Shawn K Westaway
    Department of Molecular and Medical Genetics, Oregon Health and Science University, Portland 97239, USA
    Hum Genet 119:678. 2006
  9. ncbi request reprint Gene symbol: PANK2. Disease: pantothenate kinase-associated neurodegeneration (PKAN)
    Shawn K Westaway
    Department of Molecular and Medical Genetics, Oregon Health and Science University, Portland 97239, USA
    Hum Genet 119:678. 2006
  10. ncbi request reprint Gene symbol: PANK2. Disease: pantothenate kinase-associated neurodegeneration (PKAN)
    Shawn K Westaway
    Department of Molecular and Medical Genetics, Oregon Health and Science University, Portland 97239, USA
    Hum Genet 119:678. 2006
  11. ncbi request reprint Gene symbol: PANK2. Disease: pantothenate kinase-associated neurodegeneration (PKAN)
    Shawn K Westaway
    Department of Molecular and Medical Genetics, Oregon Health and Science University, Portland 97239, USA
    Hum Genet 119:678. 2006
  12. ncbi request reprint Gene symbol: PANK2. Disease: pantothenate kinase-associated neurodegeneration (PKAN)
    Shawn K Westaway
    Department of Molecular and Medical Genetics, Oregon Health and Science University, Portland 97239, USA
    Hum Genet 119:679. 2006
  13. ncbi request reprint Gene symbol: PANK2. Disease: pantothenate kinase-associated neurodegeneration (PKAN)
    Shawn K Westaway
    Department of Molecular and Medical Genetics, Oregon Health and Science University, Portland 97239, USA
    Hum Genet 119:679. 2006
  14. ncbi request reprint Gene symbol: PANK2. Disease: pantothenate kinase-associated neurodegeneration (PKAN)
    Shawn K Westaway
    Department of Molecular and Medical Genetics, Oregon Health and Science University, Portland 97239, USA
    Hum Genet 119:672. 2006
  15. ncbi request reprint Gene symbol: PANK2. Disease: pantothenate kinase-associated neurodegeneration (PKAN)
    Shawn K Westaway
    Department of Molecular and Medical Genetics, Oregon Health and Science University, Portland 97239, USA
    Hum Genet 119:671-2. 2006
  16. ncbi request reprint Pantothenate kinase-associated neurodegeneration (formerly Hallervorden-Spatz syndrome)
    Susan J Hayflick
    Molecular and Medical Genetics, Pediatrics, and Neurology, Oregon Health Sciences University, L103A, 3181 SW Sam Jackson Park Road, Portland 97201, USA
    J Neurol Sci 207:106-7. 2003
  17. pmc Neuro-ophthalmologic and electroretinographic findings in pantothenate kinase-associated neurodegeneration (formerly Hallervorden-Spatz syndrome)
    Robert A Egan
    Casey Eye Institute, Department of Ophthalmology, Oregon Health and Science University, Portland 97201, USA
    Am J Ophthalmol 140:267-74. 2005
    ..Since the neuro-ophthalmologic and electroretinographic (ERG) features have never been well delineated, we describe them in 16 patients with PKAN...
  18. ncbi request reprint Postmortem molecular screening in unexplained sudden death
    Sumeet S Chugh
    Division of Cardiology, Oregon Health and Science University, Portland, 97239, USA
    J Am Coll Cardiol 43:1625-9. 2004
    ..We examined the prevalence of defects in arrhythmia-related candidate genes among patients with unexplained sudden cardiac death (SCD)...
  19. doi request reprint Genetics of neurodegeneration with brain iron accumulation
    Allison Gregory
    Department of Molecular and Medical Genetics, Oregon Health and Science University, 3181 S W Sam Jackson Park Road, mailcode L103, Portland, OR 97239 3098, USA
    Curr Neurol Neurosci Rep 11:254-61. 2011
    ..Continued investigations of the underlying pathogenesis of disease, with a focus on lipid, iron, and energy metabolism, will lead to the identification of new therapeutic targets...
  20. pmc Characterization of the human PANK2 promoter
    Brenda J Polster
    Molecular and Medical Genetics, Oregon Health and Science University, 3181 SW Sam Jackson Park Rd, Portland, OR 97239, USA
    Gene 465:53-60. 2010
    ..These findings validate expression of the short PANK2 isoform and enable predictions about potentially deleterious sequence variants in the regulatory region of this human disease gene...
  21. ncbi request reprint Metabolism and energy requirements in pantothenate kinase-associated neurodegeneration
    Sarah Williams
    Department of Molecular and Medical Genetics, Oregon Health and Science University, Portland, USA
    Mol Genet Metab 110:336-41. 2013
    ..We did observe increased resting energy expenditure associated with disease severity, suggesting increased energy needs later in the disease process, and elevated urinary mevalonate levels. ..
  22. doi request reprint Defective FA2H leads to a novel form of neurodegeneration with brain iron accumulation (NBIA)
    Michael C Kruer
    Division of Developmental Pediatrics, Child Development and Rehabilitation Center, Oregon Health and Science University, Portland, OR 97239, USA
    Ann Neurol 68:611-8. 2010
    ..Here we report the discovery of a novel gene that leads to a distinct form of NBIA...
  23. pmc Discordant expression of miR-103/7 and pantothenate kinase host genes in mouse
    Brenda J Polster
    Molecular and Medical Genetics, Oregon Health and Science University, Portland OR, 3181 SW Sam Jackson Park Rd, Portland, OR 97239, USA
    Mol Genet Metab 101:292-5. 2010
    ..The miR-103/7 family thus provides an intriguing model for dissecting microRNA transcription, processing and coordinated function within host genes...
  24. ncbi request reprint Neurodegeneration with brain iron accumulation: from genes to pathogenesis
    Susan J Hayflick
    Department of Molecular and Medical Genetics, Oregon Health and Science University, Portland, OR 97239 3098, USA
    Semin Pediatr Neurol 13:182-5. 2006
    ..The mechanisms implicated may contribute to our understanding of more common neurodegenerative disorders with iron dyshomeostasis, including Parkinson and Alzheimer disease...
  25. pmc Neurodegeneration with brain iron accumulation
    Allison Gregory
    Department of Molecular and Medical Genetics, Oregon Health and Science University, 3181 SW Sam Jackson Park Rd L103A, Portland, Oregon 97239, USA
    Folia Neuropathol 43:286-96. 2005
    ..Identification of the major NBIA gene has led to more accurate clinical delineation of the diseases that comprise this group, a molecular diagnostic test for PKAN, and hypotheses for treatment...
  26. ncbi request reprint Mitochondrial localization of human PANK2 and hypotheses of secondary iron accumulation in pantothenate kinase-associated neurodegeneration
    Monique A Johnson
    Department of Molecular and Medical Genetics, School of Medicine, Oregon Health and Science University, Portland 97239, USA
    Ann N Y Acad Sci 1012:282-98. 2004
    ..This common variant may cause mitochondrial dysfunction and impart susceptibility to late-onset neurodegenerative disorders with brain iron accumulation, including Parkinson's disease...
  27. pmc Novel compound heterozygous mutations in the PANK2 gene in a Chinese patient with atypical pantothenate kinase-associated neurodegeneration
    Yu hu Zhang
    Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, People s Republic of China
    Mov Disord 20:819-21. 2005
    ..Dysarthria, dysphagia, and dystonic-athetoid movements of the face and right fingers were marked. Magnetic resonance showed the typical "eye-of-the-tiger" sign...
  28. ncbi request reprint Clinical heterogeneity of neurodegeneration with brain iron accumulation (Hallervorden-Spatz syndrome) and pantothenate kinase-associated neurodegeneration
    Madhavi Thomas
    Parkinson s Disease Center and Movement Disorders Clinic, Department of Neurology, Baylor College of Medicine, Houston, Texas 77030, USA
    Mov Disord 19:36-42. 2004
    ..The phenotypic heterogeneity observed in our patients supports the notion of genetic heterogeneity in the HSS/NBIA syndrome...
  29. pmc Deficiency of pantothenate kinase 2 (Pank2) in mice leads to retinal degeneration and azoospermia
    Yien Ming Kuo
    Department of Medicine, University of California, San Francisco, CA 94143, USA
    Hum Mol Genet 14:49-57. 2005
    ..Immunohistochemistry shows staining consistent with localization of Pank2 to the mitochondria in both the retina and the spermatozoa...
  30. ncbi request reprint Progressive dystonia in a 12-year-old boy
    Jörg Klepper
    Department of Paediatrics and Paediatric Neurology, University of Essen, Germany
    Eur J Paediatr Neurol 7:85-8. 2003
    ..The newly described defect of the pantothenate kinase enzyme enables a novel therapeutic approach to be considered, based on the mutation analyses of the PANK2 gene, as well as the prenatal diagnosis of this disorder...
  31. pmc PLA2G6, encoding a phospholipase A2, is mutated in neurodegenerative disorders with high brain iron
    Neil V Morgan
    Section of Medical and Molecular Genetics, University of Birmingham School of Medicine, Edgbaston, Birmingham B15 2TT, UK
    Nat Genet 38:752-4. 2006
    ..This discovery implicates phospholipases in the pathogenesis of neurodegenerative disorders with iron dyshomeostasis...
  32. ncbi request reprint Hallervorden Spatz syndrome (pantothenate kinase associated neurodegeneration) in two Sardinian brother with homozygous mutation in PANK 2 gene
    Giovanni Cossu
    J Neurol 249:1599-600. 2002