Affiliation: Oregon Health and Science University
- Clinical and genetic delineation of neurodegeneration with brain iron accumulationA Gregory
Molecular and Medical Genetics, Oregon Health and Science University, 3181 SW Sam Jackson Park Road, Portland, OR 97239, USA
J Med Genet 46:73-80. 2009..High brain iron is also present in a portion of these cases. Clinical assessment, neuroimaging, and molecular genetic testing all play a role in guiding the diagnostic evaluation and treatment of NBIA...
- Genetics of neurodegeneration with brain iron accumulationAllison 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...
- Novel histopathologic findings in molecularly-confirmed pantothenate kinase-associated neurodegenerationMichael 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...
- 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...
- Intellectual and adaptive behaviour functioning in pantothenate kinase-associated neurodegenerationK Freeman
Child Development and Rehabilitation Center, Portland, OR, USA
J Intellect Disabil Res 51:417-26. 2007..Investigations of cognitive functioning have utilized specific neuropsychological tests, without attention to general intellectual skills or adaptive behaviour...
- Analysis of ATP13A2 in large neurodegeneration with brain iron accumulation (NBIA) and dystonia-parkinsonism cohortsMichael C Kruer
Sanford Children s Health Research Center, Sioux Falls, SD 57104, USA
Neurosci Lett 523:35-8. 2012..Our results indicate that ATP13A2 mutations are a rare cause of both NBIA and dystonia-parkinsonism...
- Neurodegeneration with brain iron accumulationAllison 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...
- 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...
- Neurodegeneration associated with genetic defects in phospholipase A(2)A Gregory
Department of Molecular and Medical Genetics, Oregon Health and Science University, L103A, 3181 SW Sam Jackson Park Rd, Portland, OR 97239 3098, USA
Neurology 71:1402-9. 2008..We sought to delineate the clinical, radiographic, pathologic, and genetic features of disease resulting from defective phospholipase A(2)...