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Dystonia
References Almasy L, Bressman SB, Raymond D, Kramer PL, Greene PE, Heiman GA, Ford B, Yount J, de Leon D, Chouinard S, Saunders-Pullman R, Brin MF, Kapoor RP, Jones AC, Shen H, Fahn S, Risch NJ, Nygaard TG (1997) Idiopathic torsion dystonia linked to chromosome 8 in two Mennonite families. Ann.Neurol. 42:670-673 Auburger G, Ratzlaff T, Lunkes A, Nelles HW, Leube B, Binkofski F, Kugel H, Heindel W, Seitz R, Benecke R, Witte OW, Voit T (1996) A gene for autosomal dominant paroxysmal choreoathetosis/spasticity (CSE) maps to the vicinity of a potassium channel gene cluster on chromosome 1p, probably within 2 cM between D1S443 and D1S197. Genomics 31:90-94 Bentivoglio AR, Del Grosso N, Albanese A, Cassetta E, Tonali P, Frontali M. Non-DYT1 dystonia in a large Italian family. J Neurol Neurosurg Psychiatry. 1997;62:357-360. Brashear A, Butler IJ, Ozelius LJ, et al. Rapid-onset dystonia-parkinsonism: a report of clinical, biochemical, and genetic studies in two families. In: Fahn S, Marsden CD, DeLong M, eds. Dystonia 3: Advances in Neurology, Vol. 78. Philadelphia, Pa: Lippincott-Raven Publishers; 1998:335-339. Brashear, A., deLeon, D., Bressman, S. B., Thyagarajan, D., Farlow, M. R., and Dobyns, W. B. Rapid-onset dystonia-parkinsonism in a second family. Neurology 48(4), 1066-1069. 1997. (GENERIC) Ref Type: Journal (Full) Bressman SB, de Leon D, Kramer PL, et al. Dystonia in Ashkenazi Jews: clinical characterization of a founder mutation. Published erratum appears in Ann Neurol. 1995;37:140. Ann Neurol. 1994;36:771-777. Bressman SB, Heiman GA, Nygaard TG, et al. A study of idiopathic torsion dystonia in a non-Jewish family: evidence for genetic heterogeneity. Neurology. 1994;44:283-287. Bressman SB, Warner TT, Almasy L, et al. Exclusion of the DYT1 locus in familial torticollis. Ann Neurol. 1996;40:681-684. Brin MF, Blitzer A, Fahn S, Gould W, Lovelace RE. Adductor laryngeal dystonia (spastic dysphonia): treatment with local injections of botulinum toxin (Botox). Mov Disord. 1989;4:287-296. Crossman AR, Brotchie JM. Pathophysiology of dystonia. In: Fahn S, Marsden CD, DeLong M, eds. Dystonia 3: Advances in Neurology, Vol. 78. Philadelphia, Pa: Lippincott-Raven Publishers; 1998:19-25. Dedo HH, Izdebski K. Intermediate results of 306 recurrent laryngeal nerve sections for spastic dysphonia. Laryngoscope. 1983;93:9-16. Dobyns WB, Ozelius LJ, Kramer PL, et al. Rapid-onset dystonia-parkinsonism. Neurology. 1993;43: 2596-2602. Fahn S, Bressman SB. Dystonia. In: Rowland, LP, ed. Merritt's Neurology. 10th ed. Philadelphia, Pa: Lippincott Williams & Wilkins; 2000:669-677. Fahn S, Bressman SB, Marsden CD. Classification of dystonia. In: Fahn S, Marsden CD, DeLong M, eds. Dystonia 3: Advances in Neurology, Vol. 78. Philadelphia, Pa: Lippincott-Raven Publishers; 1998:1-10. Fahn S, Greene PE, Ford B, Bressman SB, eds. Handbook of Movement Disorders. Philadelphia, Pa: Blackwell Science, Current Medicine, Inc.; 1998:51-71, 81-82, 128. Fink JK, Rainer S, Wilkowski J, Jones SM, Kume A, Hedera P, Albin R, Mathay J, Girbach L, Varvil T, Otterud B, Leppert M (1996) Paroxysmal dystonic choreoathetosis: tight linkage to chromosome 2q. Am.J.Hum.Genet. 59:140-145 Fletcher NA, Harding AE, Marsden CD. The relationship between trauma and idiopathic torsion dystonia. J Neurol Neurosurg Psychiatry. 1991;54:713-717. Ford B, Greene PE, Louis ED, et al. Intrathecal baclofen in the treatment of dystonia. In: Fahn S, Marsden CD, DeLong M, eds. Dystonia 3: Advances in Neurology, Vol. 78. Philadelphia, Pa: Lippincott-Raven Publishers; 1998:199-210. Fouad GT, Servidei S, Durcan S, Bertini E, Ptacek LJ (1996) A gene for familial paroxysmal dyskinesia (FPD1) maps to chromosome 2q. Am.J .Hum.Genet. 59:135-139 Furukawa Y, Lang AE, Trugman JM, et al. Gender-related penetrance and de novo GTP-cyclohydrolase I gene mutations in dopa-responsive dystonia. Neurology. 1998;50:1015-1020. Gasser T, Bereznai B, Muller B, Pruszak-Seel R, Damrich R, Deuschl G, Oertel WH (1996) Linkage studies in alcohol-responsive myoclonic dystonia. Mov.Disord. 11:363-370 Gasser T. Inherited myoclonus-dystonia syndrome. In: Fahn S, Marsden CD, DeLong M, eds. Dystonia 3: Advances in Neurology, Vol. 78. Philadelphia, Pa: Lippincott-Raven Publishers; 1998:325-334. Gimenez-Roldan S, Lopez-Fraile IP, Esteban A (1976) Dystonia in Spain: study of a Gypsy family and general survey. Adv.Neurol. 14:125-136 Goetz CG, Penn RD, Tanner CM. Efficacy of cervical cord stimulation in dystonia. Adv Neurol. 1988;50:645-649. Greene P. Baclofen in the treatment of dystonia. Clin Neuropharmacol. 1992;15:276-288. Haberhausen G, Schmitt I, Köhler A, Peters U, Rider S, Chelly J, Terwilliger JD, Monaco AP, Müller U (1995) Assignment of the dystonia-parkinsonism syndrome locus, DYT3, to a small region within a 1.8-Mb YAC contig of Xq13.1. Am.J.Hum.Genet. 57:644-650 Hallett M. Physiology of dystonia. In: Fahn S, Marsden CD, DeLong M, eds. Dystonia 3: Advances in Neurology, Vol. 78. Philadelphia, Pa: Lippincott-Raven Publishers; 1998:11-18. Holmgren G, Ozelius L, Forsgren L, et al. Adult onset idiopathic torsion dystonia is excluded from the DYT1 region (9q34) in a Swedish family. J Neurol Neurosurg Psychiatry. 1995;59:178-181. Ichinose H, Ohye T, Takahashi E, Seki N, Hori T, Segawa M, Nomura Y, Endo K, Tanaka H, Tsuji S, Fujita K, Nagatsu T (1994) Hereditary progressive dystonia with marked diurnal fluctuation caused by mutations in the GTP cyclohydolase I gene. Nat.Genet. 8:236-242 Iliceto G, Thompson PD, Day BL, Rothwell JC, Lees AJ, Marsden CD. Diaphragmatic flutter, the moving umbilicus syndrome, and "belly dancer's" dyskinesia. Mov Disord. 1990;5:15-22. Ishikawa A, Miyatake T (1995) A family with hereditary juvenile dystonia-parkinsonism. Mov.Disord. 10:482-488 Jankovic J. Medical therapy and botulinum toxin in dystonia. In: Fahn S, Marsden CD, DeLong M, eds. Dystonia 3: Advances in Neurology, Vol. 78. Philadelphia, Pa: Lippincott-Raven Publishers; 1998:169-183. Jun AS, Brown MD, Wallace DC (1994) A mitochondrial DNA mutation at np 14459 of the ND6 gene associated with maternally inherited Leber's Hereditary Optic Neuropathy and dystonia. Proc.Natl.Acad.Sci.U.S.A. 91:6206-6210 Kandil MR, Tohamy SA, Fattah MA, Ahmed HN, Farwiez HM (1994) Prevalence of chorea, dystonia and athetosis in Assiut, Egypt: a clinical and epidemiological study. Neuroepidemiology. 13:202-210 Kertesz A (1967) Paroxysmal kinesigenic choreoathetosis. An entity within the paroxysmal choreoathetosis syndrome. Description of 10 cases, including 1 autopsied. Neurology 17:680-690 Klein C, Brin MF, Kramer P, et al. Association of a missense change in the D2 dopamine receptor with myoclonus dystonia. Proc Natl Acad Sci U S A. 1999;96:5173-5176. Klein C, Kann M, Kis B, et al. Genetics of dystonia. Nervenarzt. 2000;71:431-441. Kramer PL, de Leon D, Ozelius L, et al. Dystonia gene in Ashkenazi Jewish population is located on chromosome 9q32-34. Ann Neurol. 1990;27:114-120. Kramer PL, Heiman GA, Gasser T, et al. The DYT1 gene on 9q34 is responsible for most cases of early limb-onset idiopathic torsion dystonia in non-Jews. Am J Hum Genet. 1994;55:468-475. Lance JW (1963) Sporadic and familial varieties of tonic seizures. J.Neurol.Neurosurg.Psychiatry 26:51-59 Lee LV, Kupke KG, Caballar-Gonzaga F, Hebron-Ortiz M, Muller U. The phenotype of the X-linked dystonia-parkinsonism syndrome. An assessment of 42 cases in the Philippines. Medicine (Baltimore). 1991;70:179-187. Leube B, Rudnicki D, Ratzlaff T, Kessler KR, Benecke R, Auburger G. Idiopathic torsion dystonia: assignment of a gene to chromosome 18p in a German family with adult onset, autosomal dominant inheritance and purely focal distribution. Hum Mol Genet. 1996;5:1673-1677. Novotny EJ, Jr., Singh G, Wallace DC, Dorfman LJ, Louis A, Sogg RL, Steinman L (1986) Leber's disease and dystonia: a mitochondrial disease. Neurology 36:1053-1060 Nutt JG, Muenter MD, Aronson A, Kurland LT, Melton LJ 3d. Epidemiology of focal and generalized dystonia in Rochester, Minnesota. Mov Disord. 1988;3:188-194. Online Mendelian Inheritance in Man (OMIM). National Center for Biotechnology Information Web site. John Hopkins University; McKusick VA, ed. 121800: Torsion dystonia 1, autosomal dominant; DYT1. Available at: http://www.ncbi.nlm.nih.gov/htbin-post/Omim/dispmim?121800. Last edit date August 8, 2000. Online Mendelian Inheritance in Man (OMIM). National Center for Biotechnology Information Web site. John Hopkins University; McKusick VA, ed. 314250: Dystonia 3, torsion, x-linked; DYT3; alternative titles: Torsion dystonia-parkinsonism, Filipino type. Available at: http://www.ncbi.nlm.nih.gov/htbin-post/Omim/dispmim?314250. Last edit date May 16, 1998. Online Mendelian Inheritance in Man (OMIM). National Center for Biotechnology Information Web site. John Hopkins University; McKusick VA, ed. 128230: Dystonia, progressive, with diurnal variation; alternative titles: Segawa syndrome, DYT5, Dopa-responsive dystonia (DRD). Available at: http://www.ncbi.nlm.nih.gov/htbin-post/Omim/dispmim?128230. Last edit date May 26, 1999. Online Mendelian Inheritance in Man (OMIM). National Center for Biotechnology Information Web site. John Hopkins University; McKusick VA, ed. 159900: Myoclonus, hereditary essential; alternative title: DYT11. Available at: http://www.ncbi.nlm.nih.gov/htbin-post/Omim/dispmim?159900. Last edit date March 16, 2000. Online Mendelian Inheritance in Man (OMIM). National Center for Biotechnology Information Web site. John Hopkins University; McKusick VA, ed. 128235: Dystonia 12; DYT12. Available at: http://www.ncbi.nlm.nih.gov/htbin-post/Omim/dispmim?128235. Last edit date October 2, 2000. Ozelius L, Kramer PL, Moskowitz CB, et al. Human gene for torsion dystonia located on chromosome 9q32-34. Neuron. 1989;2:1427-1434. Ozelius LJ, Hewett JW, Page CE, Bressman SB, Kramer PL, Shalish C, deLeon D, Brin MF, Raymond D, Corey DP, Fahn S, Risch NJ, Buckler AJ, Gusella JF, Breakefield XO (1997) The early-onset torsion dystonia gene (DYT1) encodes an ATP binding protein. Nat.Gen. Parker N (1985) Hereditary whispering dysphonia. J Neurol Neurosurg.Psychiatry 48:218-224 Raskind WH, Bolin T, Wolff J, Fink J, Matsushita M, Litt M, Lipe H, Bird TD (1998) Further localization of a gene for paroxysmal dystonic choreoathetosis to a 5-cM region on chromosome 2q34. Hum.Genet. 102:93-97 Risch N, de Leon D, Ozelius L, et al. Genetic analysis of idiopathic torsion dystonia in Ashkenazi Jews and their recent descent from a small founder population. Nat Genet. 1995;9:152-159. Robertson-Hoffman DE, Mark MH, Sage JI. Isolated lingual/palatal dystonia. Mov Disord. 1991;6:177-179. Smith LA, Heersema PH (1941) Periodic dystonia. Mayo Clin.Proc. 16:842-846 Vitek JL, Zhang J, Evatt M, et al. GPi pallidotomy for dystonia: clinical outcome and neuronal activity. In: Fahn S, Marsden CD, DeLong M, eds. Dystonia 3: Advances in Neurology, Vol. 78. Philadelphia, Pa: Lippincott-Raven Publishers; 1998:211-219. Walker ES (1981) Familial paroxysmal dystonic choreoathetosis: a neurologic disorder simulating psychiatric illness. Johns.Hopkins.Med.J. 148:108-113 Warner T, Camfield L, Marsden CD, et al. A prevalence study of primary dystonia in eight European countries. J Neurology 2000;247(10):787-792. Watts RL, Koller WC, eds. Movement Disorders: Neurologic Principles and Practice. New York, NY: McGraw-Hill Companies, Inc.; 1997:4-5, 419-475. |
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