Title: Hereditary spastic paraplegia: The pace quickens
Abstract: Annals of NeurologyVolume 51, Issue 6 p. 669-672 Editorials Hereditary spastic paraplegia: The pace quickens† John K. Fink MD, John K. Fink MD Department of Neurology, University of Michigan, Geriatric Research, Education, and Clinical Center, Ann Arbor Veterans Affairs Medical Center, Ann Arbor, MISearch for more papers by this author John K. Fink MD, John K. Fink MD Department of Neurology, University of Michigan, Geriatric Research, Education, and Clinical Center, Ann Arbor Veterans Affairs Medical Center, Ann Arbor, MISearch for more papers by this author First published: 21 May 2002 https://doi.org/10.1002/ana.10258Citations: 26 † This article is a US Government work and, as such, is in the public domain in the United States of America. Read the full textAboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL References 1 Seeligmüller A. Sklerose der Seitenstrange des Ruckenmarks bei vier Kindern derselben Familie. Dtsch Med Wschr 1876; 2: 185– 186. 2 Fink JK. Hereditary spastic paraplegia. In: DL Rimoin, RE Pyeritz, JM Connor, BR Korf, eds. Emery & Rimoin's principles and practice of medical genetics. 4th ed. London: Harcourt UK, 2002: 3124– 3145. 3 Harding AE. Classification of the hereditary ataxias and paraplegias. Lancet 1983; 1: 1151– 1155. 4 Valente EM, Brancati F, Caputo V, et al. A novel locus for autosomal dominant pure hereditary spastic paraplegia (SPG19) maps to chromosome 9q22–q34. Ann Neurol 2002; 51: 681– 685. 5 Fink JK, Hedera P. Hereditary spastic paraplegia: genetic heterogeneity and genotype-phenotype correlation. Semin Neurol 1999; 19: 301– 310. 6 Hazan J, Fonknechten N, Mavel D, et al. Spastin, a new AAA protein, is altered in the most frequent form of autosomal dominant spastic paraplegia. Nat Genet 1999; 23: 296– 303. 7 Errico A, Ballabio A, Rugarli EI. Spastin, the protein mutated in autosomal dominant hereditary spastic paraplegia, is involved in microtubule dynamics. Hum Mol Gen 2002; 11: 153– 163. 8 Azim AC, Hentati A, Haque MFU, et al. Spastin, a new AAA protein, binds to α and β tubulins. Am J Hum Genet 2000; 67(suppl): 197. 9 Zhao X, Alvarado D, Rainier S, et al. Mutations in a novel GTPase cause autosomal dominant hereditary spastic paraplegia. Nat Genet 2001; 29: 326– 331. 10 Muglia M, Magariello A, Nicoletti G, et al. Further evidence that SPG3A gene mutations cause autosomal dominant hereditary spastic paraplegia. Ann Neurol 2002; 51: 796– 797. 11 Casari G, Fusco M, Ciarmatori S, et al. Spastic paraplegia and OXPHOS impairment caused by mutations in paraplegin, a nuclear-encoded mitochondrial metalloprotease. Cell 1998; 93: 973– 983. 12 DeMichele G, DeFusco M, Cavalcanti F, et al. A new locus for autosomal recessive hereditary spastic paraplegia maps to chromosome 16q24.3. Am J Hum Genet 1998; 63: 135– 139. 13 Hansen JJ, Durr A, Cournu-Rebeix I, et al. Hereditary spastic paraplegia SPG13 is associated with a mutation in the gene encoding the mitochondrial chaperonin Hsp60. Am J Hum Genet 2002; 70: 1328– 1332. 14 Byrne PC, Webb S, McSweeney F, et al. Linkage of AD HSP and cognitive impairment to chromosome 2p: haplotype and phenotype analysis indicates variable expression and low or delayed penetrance. Eur J Human Genet 1998; 6: 275– 282. Citing Literature Volume51, Issue6June 2002Pages 669-672 ReferencesRelatedInformation