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ReferencesBoustany RMN, Fleischnick E, Alper CA, et al. The autosomal dominant form of 'pure' familial spastic paraplegia: clinical findings and linkage analysis of a large pedigree. Neurology. 1987;37:910-915. Byrne, PC, Webb S, McSweeney F, Burke T, Hutchinson M, Parfrey NA. Linkage of AD HSP and cognitive impairment to chromosome 2p: haplotype and phenotype analysis indicates variable expression and low or delayed penetrance. Europ J Hum Genet. 1998;6:275-282. Cooley WC, Rawnsley E, Melkonian G, et al. Autosomal dominant familial spastic paraplegia: report of a large New England family. Clin Genet. 1990;38:57-68. Durr A, Davoine CS, Paternotte C, et al. Phenotype of autosomal dominant spastic paraplegia linked to chromosome 2. Brain. 1996;119:1487-1496. Fink JK. Advances in hereditary spastic paraplegia. Curr Opin Neurol. 1997;10:313-318. Fink JK, Heiman-Patterson T, Bird T, et al. Hereditary spastic paraplegia: advances in genetic research. Hereditary Spastic Paraplegia Working group. Neurology. 1996;46:1507-1514. Fink JK, Wu CB, Jones SM, et al. Autosomal dominant familial spastic paraplegia: tight linkage to chromosome 15q. Am J Hum Genet. 1995;56:188-192. Fonknechten N, Mavel D, Byrne P, et al. Spectrum of SPG4 mutations in autosomal dominant spastic paraplegia. Hum Molec Genet. 2000;9:637-644. Harding AE. Hereditary 'pure' spastic paraplegia: a clinical and genetic study of 22 families. J Neurol Neurosurg Psychiat. 1981;44:871-883. Hazan J, Fontaine B, Bruyn RPM, et al. Linkage of a new locus for autosomal dominant familial spastic paraplegia to chromosome 2p. Hum Molec Genet. 1994;3:1569-1573. Hazan J, Lamy C, Melki J, Munnich A, de Recondo J, Weissenbach J. Autosomal dominant familial spastic paraplegia is genetically heterogeneous and one locus maps to chromosome 14q. Nature Genet. 1993;5:163-167. Hedera P, Rainier S, Alvarado D, et al. Novel locus for autosomal dominant hereditary spastic paraplegia, on chromosome 8q. Am J Hum Genet. 1999;64:563-569. Hentati A, Pericak-Vance MA, Hung WY, et al. Linkage of 'pure' autosomal recessive familial spastic paraplegia to chromosome 8 markers and evidence of genetic locus heterogeneity. Hum Molec Genet. 1994;3:1263-1267. Jouet M, Rosenthal A, Armstrong G, et al. X-linked spastic paraplegia (SPG1), MASA syndrome and X-linked hydrocephalus result from mutations in the L1 gene. Nature Genet. 1994;7:402-407. Keppen LD, Leppert MF, O'Connell P, et al. Etiological heterogeneity in X-linked spastic paraplegia. Am J Hum Genet. 1987;41:933-943. Martinez Murillo F, Kobayashi H, Pegoraro E, et al. Genetic localization of a new locus for recessive familial spastic paraparesis to 15q13-15. Neurology. 1999;53:50-56. Nielsen, JE, Krabbe K, Jennum P, et al. Autosomal dominant pure spastic paraplegia: a clinical, paraclinical, and genetic study. J Neurol Neurosurg Psychiat. 1998;64:61-66. Online Mendelian Inheritance in Man (OMIM). National Center for Biotechnology Information Web site. John Hopkins University; McKusick VA, ed. 312900: Spastic paraplegia, X-linked, complicated; SPG1. Available at: http://www.ncbi.nlm.nih.gov/htbin-post/Omim/dispmim?312900. Last edit date March 30, 1998. Online Mendelian Inheritance in Man (OMIM). National Center for Biotechnology Information Web site. John Hopkins University; McKusick VA, ed. 312920: Spastic paraplegia, X-linked, uncomplicated; SPG2. Available at: http://www.ncbi.nlm.nih.gov/htbin-post/Omim/dispmim?312920. Last edit date September 1, 1999. Online Mendelian Inheritance in Man (OMIM). National Center for Biotechnology Information Web site. John Hopkins University; McKusick VA, ed. 182600: Spastic paraplegia 3, autosomal dominant; SPG3A. Available at: http://www.ncbi.nlm.nih.gov/htbin-post/Omim/dispmim?182600. Last edit date April 7, 2000. Online Mendelian Inheritance in Man (OMIM). National Center for Biotechnology Information Web site. John Hopkins University; McKusick VA, ed. 182601: Spastic paraplegia 4, autosomal dominant; SPG4. Available at: http://www.ncbi.nlm.nih.gov/htbin-post/Omim/dispmim?182601. Last edit date April 17, 2000. Online Mendelian Inheritance in Man (OMIM). National Center for Biotechnology Information Web site. John Hopkins University; McKusick VA, ed. 270800: Spastic paraplegia 5A, autosomal recessive; SPG5A. Available at: http://www.ncbi.nlm.nih.gov/htbin-post/Omim/dispmim?270800. Last edit date September 1, 1999. Online Mendelian Inheritance in Man (OMIM). National Center for Biotechnology Information Web site. John Hopkins University; McKusick VA, ed. 600146: Spastic paraplegia 5B, autosomal recessive; SPG5B. Available at: http://www.ncbi.nlm.nih.gov/htbin-post/Omim/dispmim?600146. Last edit date February 19, 1999. Online Mendelian Inheritance in Man (OMIM). National Center for Biotechnology Information Web site. John Hopkins University; McKusick VA, ed. 600363: Spastic paraplegia 6, autosomal dominant; SPG6. Available at: http://www.ncbi.nlm.nih.gov/htbin-post/Omim/dispmim?600363. Last edit date September 24, 1999. Online Mendelian Inheritance in Man (OMIM). National Center for Biotechnology Information Web site. John Hopkins University; McKusick VA, ed. 602783: Paraplegin; spastic paraplegia 7, autosomal recessive, included; SPG7, included. Available at: http://www.ncbi.nlm.nih.gov/htbin-post/Omim/dispmim?602783. Last edit date September 3, 1999. Online Mendelian Inheritance in Man (OMIM). National Center for Biotechnology Information Web site. John Hopkins University; McKusick VA, ed. 603563: Spastic paraplegia 8, autosomal dominant; SPG8. Available at: http://www.ncbi.nlm.nih.gov/htbin-post/Omim/dispmim?603563. Last edit date September 24, 1999. Online Mendelian Inheritance in Man (OMIM). National Center for Biotechnology Information Web site. John Hopkins University; McKusick VA, ed. 601162: Spastic paraplegia 9, autosomal dominant; SPG9. Available at: http://www.ncbi.nlm.nih.gov/htbin-post/Omim/dispmim?601162. Last edit date May 5, 1999. Online Mendelian Inheritance in Man (OMIM). National Center for Biotechnology Information Web site. John Hopkins University; McKusick VA, ed. 604187: Spastic paraplegia 10, autosomal dominant; SPG10. Available at: http://www.ncbi.nlm.nih.gov/htbin-post/Omim/dispmim?604187. Last edit date November 23, 1999. Online Mendelian Inheritance in Man (OMIM). National Center for Biotechnology Information Web site. John Hopkins University; McKusick VA, ed. 604360: Spastic paraplegia 11, autosomal recessive; SPG11. Available at: http://www.ncbi.nlm.nih.gov/htbin-post/Omim/dispmim?604360. Last edit date January 18, 2000. Online Mendelian Inheritance in Man (OMIM). National Center for Biotechnology Information Web site. John Hopkins University; McKusick VA, ed. 604805: Spastic paraplegia 12, autosomal dominant; SPG12. Available at: http://www.ncbi.nlm.nih.gov/htbin-post/Omim/dispmim?604805. Last edit date April 12, 2000. Polo JM, Calleja J, Combarros O, Berciano J. Hereditary 'pure' spastic paraplegia: a study of nine families. J Neurol Neurosurg Psychiat. 1993;56:175-181. Reid E, Dearlove AM, Osborn O, Rogers MT, Rubinsztein DC. A locus for autosomal dominant 'pure' hereditary spastic paraplegia maps to chromosome 19q13. Am J Hum Genet. 2000;66:728-732. Reid E, Dearlove AM, Rhodes M, Rubinsztein DC. A new locus for autosomal dominant 'pure' hereditary spastic paraplegia mapping to chromosome 12q13, and evidence for further genetic heterogeneity. Am J Hum Genet. 1999;65:757-763. Saugier-Veber P, Munnich A, Bonneau D, et al. X-linked spastic paraplegia and Pelizaeus-Merzbacher disease are allelic disorders at the proteolipid protein locus. Nature Genet. 1994;6:257-262. Scheltens P, Bruyn RPM, Hazenberg GJ. A Dutch family with autosomal dominant pure spastic paraparesis (Strumpell's disease). Acta Neurol Scand. 1990;82:169-173. Seri M, Cusano R, Forabosco P, et al. Genetic mapping to 10q23.3-q24.2, in a large Italian pedigree, of a new syndrome showing bilateral cataracts, gastroesophageal reflux, and spastic paraparesis with amyotrophy. Am J Hum Genet. 1999;64:586-593. Slavotinek AM, Pike M, Mills K, Hurst JA. Cataracts, motor system disorder, short stature, learning difficulties, and skeletal abnormalities: a new syndrome? Am J Med Genet. 1996;62:42-47. White KD, Ince PG, Lusher M, et al. Clinical and pathologic findings in hereditary spastic paraparesis with spastin mutation. Neurology. 2000;55:89-94. |
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