Further localization of a gene for paroxysmal dystonic choreoathetosis to a 5-cM region on chromosome 2q34

Human Genetics

Volumn 102, Issue 1, 1998, Pages 93-97

  Raskind, Wendy H ^a,b   Bolin, Tamara ^b   Wolff, John ^b   Fink, John ^c   Matsushita, Mark ^b   Litt, Michael ^d   Lipe, Hillary ^e   Bird, Thomas D ^b,e  

^a UNIVERSITY OF WASHINGTON   (United States)

^b UNIVERSITY OF WASHINGTON SCHOOL OF MEDICINE   (United States)

^c UNIVERSITY OF MICHIGAN   (United States)

^d OREGON HEALTH AND SCIENCE UNIVERSITY   (United States)

^e VETERANS AFFAIRS MEDICAL CENTER   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ALCOHOL; CAFFEINE;

ANXIETY; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CHOREOATHETOSIS; CHROMOSOME 2Q; CLINICAL ARTICLE; DYSTONIA; FACE; FATIGUE; GENE LOCATION; GENETIC MARKER; GENETIC RECOMBINATION; GENOTYPE; HAPLOTYPE; HUMAN; HUMAN CELL; HUMAN EXPERIMENT; INVOLUNTARY MOVEMENT; LIMB; NEUROLOGIC DISEASE; PENETRANCE; PRIORITY JOURNAL;

ADULT; ANION TRANSPORT PROTEINS; ANTIPORTERS; ATHETOSIS; CHOREA; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 2; DYSTONIA; FEMALE; GENETIC MARKERS; HUMANS; LINKAGE (GENETICS); MALE; MEMBRANE PROTEINS; SYNDROME;

EID: 0031948567     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004390050659     Document Type: Article

References (36)

1. Auberger 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 Ip, probably within 2 cM between D1S443 and DIS 197. Genomics 31 : 90-94
2. Bressman SB, Heiman GA, Nygaard TG, Ozelius LJ, Hunt AL, Brin MF (1994) A study of idiopathic torsion dystonia in a non-Jewish family: evidence for genetic heterogeneity. Neurology 44 : 283-287
3. Browne DL, Gancher ST, Nutt JG, Brunt ERP, Smith EA, Kramer P, Litt M (1994) Episodic ataxia/myokymia syndrome is associated with point mutations in the human potassium channel gene, KCNLAI. Nat Genet 8 : 136-140
4. Cannon SC, Brown RH Jr, Corey DC (1991) A sodium channel defect in hyperkalemic periodic paralysis: potassium-induced failure of inactivation. Neuron 6 : 619-626
5. Clerget-Darpoux F, Bonatï-Pellié C, Hochez J (1986) Effects of misspecifying genetic parameters in lod score analysis. Biometrics 42 : 393-399
6. Cottingham RW Jr, Idury RM, Schaffer AA (1993) Faster sequential linkage computations. Am J Hum Genet 53 : 252-263
7. Dausset J, Cann H, Cohen D, Lathrop M, Lalouel JM, White R (1990) Centre D'Etude du Polymorphisme Humain (CEPH): collaborative genetic mapping of the human genome. Genomics 6 : 575-577
8. Demirkiran M, Jankovic J (1995) Paroxysmal dyskinesias: clinical features and classification. Ann Neurol 38 : 571-579
9. Elston RC (1989) Man bites dog? The validity of maximizing lod scores to determine mode of inheritance. Am J Med Genet 34 : 487-488
10. Fahn S (1994) The paroxysmal dyskinesias. In: Marsden CD, Fahn S (eds) Movement disorders, vol 3. Butterworth-Heinemann, Oxford, pp 310-345
11. Fink JK, Ranier 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
12. 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
13. GDB Genome Data Base (1990; updated daily) Cited March 1996 - GDB data type: map, accession ID gdb: 1212462. cited 10 October 1996 - Accession ID gdb: 4225469; cited 21 January 1996 - accession ID gdb: 1012596. Johns Hopkins University, Baltimore, Md. URL:http://gdbwww.gdb.org/
14. Goodenough DJ, Fariello RG, Annis BL, Chun RWM (1978) Familial and acquired paroxysmal dyskinesias. Arch Neurol 35 : 827-831
15. Greenberg DA (1989) Inferring mode of inheritance by comparison of lod scores. Am J Med Genet 34 : 480-486
16. Hudson AJ, Ebers GC, Bulman DE (1995) The skeletal muscle sodium and chloride channel diseases. Brain 118 :547-563
17. 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 cyclohydrolase I gene. Nat Genet 8 : 236-242
18. Jurkatt-Rott K, Lehmann-Horn F, Elbaz A, Heine R, Gregg RG, Hogan K, Powers PA, Lapie P, Vale-Santos JE, Weissenbach J, Fontaine B (1994) A calcium channel mutation causing hypokalemic periodic paralysis. Hum Mol Genet 3 : 1415-1419
19. Kertesz A (1967) Paroxysmal kinesigenic choreoathetosis: an entity within the paroxysmal choreoathetosis syndrome: description of 10 cases, including 1 autopsied. Neurology 17 : 680-690
20. Lance JW (1977) Familial paroxysmal dystonic choreoathetosis and its differentiation from related syndromes. Ann Neurol 2 : 285-293
21. Lathrop GM, Lalouel JM (1984) Easy calculations of LOD scores and genetic risks on small computers. Am J Hum Genet 36 : 460-465
22. Lathrop GM, Lalouel JM, Julier C, Ott J (1984) Strategies for multilocus analysis in humans. Proc Natl Acad Sci USA 81 : 3443-3446
23. Lathrop GM, Lalouel JM, White RL (1986) Construction of human linkage maps: likelihood calculations for multilocus analysis. Genet Epidemiol 3 : 39-52
24. Litt M, Kramer P, Browne D, Gancher S, Brunt ERP, Root R (1994) A gene for episodic ataxia/myokymia maps to chromosome 12pl3. Am J Hum Genet 55 : 702-709
25. Mailander V, Heine R, Deymeer F, Lehmann-Horn F (1996) Novel muscle chloride channel mutations and their effects on heterozygous carriers. Am J Hum Genet 58 : 317-324
26. McClatchey AI, Van den Bergh P, Pericak-Vance M, Raskind W, Vavallen C, McKenna-Yasek D, Haines JL, Bird T, Brown Jr. RH, Gusella JF (1992) Temperature-sensitive mutations in the III-IV cytoplasmic loop region of the skeletal muscle sodium channel gene in paramyotonia congenita. Cell 68 : 769-774
27. Mount LA, Reback S (1940) Familial paroxysmal choreoathetosis: preliminary report on a hitherto undescribed clinical syndrome. Arch Neurol Psychiatry 44 : 841-847
28. Mullenbach R, Lagoda PJL, Welter C (1989) An efficient saltchloroform extraction of DNA from blood and tissues. Trends Genet 5 : 391
29. Ozelius L, Kramer P, Moskowitz CB, Kwiatkowski DJ, Brin MF, Bressman SB (1989) Human gene for torsion dystonia located on chromosome 9q32-q34. Neuron 2 : 1427-1434
30. Ozelius LJ, Kramer PL, de Leon D, Risch N, Bressman S, Schubach D (1992) Strong allelic association between the torsion dystonia gene (DYT1) and loci on chromosome 9q34 in Askhenazi Jews. Am J Hum Genet 50 : 619-628
31. Ptacek LJ, Tawil R, Griggs RC, Meola G, McManis P, Barohn RJ, Mendell JR, et al. (1994) Sodium channel mutations in acetazolamide-responsive myotonia congenita, paramyotonia congenita and hyperkalemic periodic paralysis. Neurology 44 : 1500-1503
32. Raskind WH, Conrad EU, Chansky H, Matsushita M (1995) Loss of heterozygosity in chondrosarcomas for markers linked to hereditary multiple exostoses loci on chromosomes 8 and 11. Am J Hum Genet 56 : 1132-1139
33. Richards RN, Barnett HJM (1968) Paroxysmal dystonic choreoathetosis. Neurology 18 : 461-469
34. Schaffer AA, Gupta SK, Shiriam K, Cottingham RW Jr (1994) Avoiding recomputation in linkage analysis. Hum Hered 44 : 225-237
35. Su YR, Klanke CA, Houseal TW, Linn SC, Burk SE, Varvil TS, Otterud BE, Shull GE, Leppert MF, Menon AG (1994) Molecular cloning and physical and genetic mapping of the human anion exchanger isoform3 (SLC2c) gene to chromosome 2q36. Genomics 22 : 605-609
36. Tanaka H, Endo K, Tsuji S, Nygaard TG, Weeks DE, Nomura Y (1995) The gene for hereditary progressive dystonia with marked diurnal fluctuation maps to chromosome 14q. Ann Neurol 37 : 405-408