Qiang Liu,1 Justin Trotter,6 Juan Zhang,1 Melinda M. Peters,6 Hua Cheng,2 Jianxin Bao,3 Xianlin Han,2 Edwin J. Weeber,6 and Guojun Bu1,4,5 Departments of 1Pediatrics, 2Medicine, 3Otolaryngology, and 4Cell Biology and Physiology, 5Hope Center for Neurological Disorders, Washington University School of Medicine, St. Louis, Missouri 63110, and 6Department of Molecular Pharmacology and Physiology, ...

Authors: Cornelia Lee-Thedieck, Nicole Rauch, Roberto Fiammengo, Gerd Klein, Joachim P. Spatz Affilitations: 1 Institute of Functional Interfaces, Karlsruhe Institute of Technology, Eggenstein-Leopoldshafen, Germany 2 Department of New Materials and Biosystems, Max Planck Institute for Intelligent Systems, Stuttgart, Germany & Department of Biophysical Chemistry, University of Heidelberg, Germa...

Authors: Cornelia Lee-Thedieck, Nicole Rauch, Roberto Fiammengo, Gerd Klein, Joachim P. Spatz Affilitations: 1 Institute of Functional Interfaces, Karlsruhe Institute of Technology, Eggenstein-Leopoldshafen, Germany 2 Department of New Materials and Biosystems, Max Planck Institute for Intelligent Systems, Stuttgart, Germany & Department of Biophysical Chemistry, University of Heidelberg, Germa...

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...

In humans overlap between various neurodegenerative disorders is a well known phenomenon. We reported a case of a 77-year-old woman with parkinsonism, dystonia, psychiatric symptoms and progressing dementia misdiagnosed at the age of 51 years as Parkinson's disease. Histopathological examination of the patient's brain performed 26 years after the disease onset revealed numerous axonal spheroids...

| August 2015 | 826 In conclusion, treatment plans for HSD patients require general anesthesia when diffi cult intubation criteria and cooperation diffi culty are present.[1,2] Sedoanalgesia under monitored anesthesia care, with titration of short-term anesthetics, and achieving UMSS 3 provides sufficient mouth opening for minor dental surgery procedures. Probable complications are prevented; m...

Edgar, G. W. F. (1957). In CerebralLipidoses, p. 48, ed. J. N. Cumings. Blackwell, Oxford. -(1961a). In Encephalitides, p. 648, ed. L. van Bogaert, J. Radermecker, J. Hozay, and A. Lowenthal. Elsevier, Amsterdam. (1961b). Neurochemistry Symposium. 7th International Congress of Neurology. Rome. (In the press.) Einarson, L., and Stromgren, E. (1961). Acta Jutland, 33, 1. Hallervorden, J. (1957). ...

Neurodegeneration with brain iron accumulation (NBIA) describes a group of progressive extrapyramidal disorders with radiographic evidence of focal iron accumulation in the brain, usually in the basal ganglia. Patients previously diagnosed with Hallervorden-Spatz syndrome fall into this category. Mutations in the PANK2 gene account for the majority of NBIA cases and cause an autosomal recessive...

Mutations in the pantothenate kinase 2 (PANK2) gene have been identified in patients with neurodegeneration with brain iron accumulation (NBIA; formerly Hallervorden–Spatz disease). However, the mechanisms by which these mutations cause neurodegeneration are unclear, especially given the existence of multiple pantothenate kinase genes in humans and multiple PanK2 transcripts with potentially di...