@article{8c2da36e5ffb4c8fa748b7ec1fd0d612,
title = "A novel pantothenate kinase gene (PANK2) is defective in Hallervorden-Spatz syndrome",
abstract = "Hallervorden-Spatz syndrome (HSS) is an autosomal recessive neurodegenerative disorder associated with iron accumulation in the brain. Clinical features include extrapyramidal dysfunction, onset in childhood, and a relentlessly progressive course. Histologic study reveals iron deposits in the basal ganglia. In this respect, HSS may serve as a model for complex neurodegenerative diseases, such as Parkinson disease, Alzheimer disease, Huntington disease and human immunodeficiency virus (HIV) encephalopathy, in which pathologic accumulation of iron in the brain is also observed. Thus, understanding the biochemical defect in HSS may provide key insights into the regulation of iron metabolism and its perturbation in this and other neurodegenerative diseases. Here we show that HSS is caused by a defect in a novel pantothenate kinase gene and propose a mechanism for oxidative stress in the pathophysiology of the disease.",
author = "Bing Zhou and Westaway, {Shawn K.} and Barbara Levinson and Johnson, {Monique A.} and Jane Gitschier and Hayflick, {Susan J.}",
note = "Funding Information: We are grateful to the many individuals, families and clinicians (J.P. Harpey, M. Shevell, M. Pi{\~n}eda, G. Kurlemann, J. Coppeto, J. Jankovic, S. Davis, H. Hattori, K. Sethi, M. Pandolfo, L. Angelini, N. Nardocci, A. Malandrini, J. Penzien, G. Mortier, M. Hoeltzenbein, J.A.Urtizberea, M.A.M. Salih, D. Buckley, C. Haenggeli, A. Bottani, B. Beinlich, J. {\O}stergaard, S. Bundey, F. Stogbauer, K. N{\o}rgaard Hansen, J. Guimar{\~a}es, C. Yalcinkaya, A. Feigenbaum, Z. Liptai, J. Carlo, P. Blasco, A. Zimmerman, R. Cilio, E. Bertini, G. Worley, U. Thyen, J. Molineuvo, M. Melis, G. Cossu, J. Menkes, K. Holl{\'o}dy, A. Barrett, S. Simpson, C. Schrander-Stumpel, H. Chaabouni, R. Gatti, H. Topaloglu, M. Nigro, F. Hisama, N.R.M. Buist, B. Ben-Ze{\textquoteright}ev, A. Macaya, B. Korf, P. Heydemann, S. Abbs, R. Robinson, L. Shinobu, E. Dooling, P. Wheeler, P. Rosman, W. Wasiewski, P. Castelnau, P. Evrard, R. Haslam, M. Filocamo, M. Karwacki, T. Kmie{\ae}, S. Frucht, T. Konishi, M. Regina Reyes, M. Al-Mateen, K. Weidenheim, M. Delgado, S. Johnsen, S. Golembowski, W. Ondo, S. Bohlega, R. Bustamante, O. Fernandez, M. Wiznitzer, H. Morgan, I. Butler, T. Babb, D. Sanderson, M. Williams, C. Harding, R. Steiner, S. Toor, E. Thompson, J. MacKenzie, J. Clyman and D. Fornoff) who contributed to this study. We thank T. Taylor, H. Payami, M. Litt, A. Malone, S. Bae, M. Gunthorpe, H. Consencgo, E. Stewart, S. Packman, the Oregon Health and Science University MMI Sequencing Core, and the Hallervorden–Spatz Syndrome Association. This work was supported by a grant from the National Eye Institute and the Sandler Neurogenetics Center at the University of California, San Francisco. J.G. is an investigator with the Howard Hughes Medical Institute.",
year = "2001",
doi = "10.1038/ng572",
language = "English (US)",
volume = "28",
pages = "345--349",
journal = "Nature genetics",
issn = "1061-4036",
publisher = "Nature Publishing Group",
number = "4",
}