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

Volumn 31, Issue 1, 1996, Pages 90-94

  Auburger, G ^a   Ratzlaff, T ^a   Lunkes, A ^a   Nelles, H W ^a   Leube, B ^a   Binkofski, F ^a   Kugel, H ^b   Heindel, W ^b   Seitz, R ^a   Benecke, R ^a   Witte, O W ^a   Voit, T ^a  

^a UNIVERSITY HOSPITAL DÜSSELDORF   (Germany)

^b UNIVERSITY OF COLOGNE   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

ATAXIA;

ACETAZOLAMIDE; ALCOHOL; ANTICONVULSIVE AGENT; DNA; PHENYTOIN; POTASSIUM; POTASSIUM CHANNEL;

ARTICLE; AUTOSOMAL DOMINANT DISORDER; CHOREOATHETOSIS; CHROMOSOME 1P; CLINICAL ARTICLE; CONTROLLED STUDY; ELECTROENCEPHALOGRAM; GENE; GENE CLUSTER; GENE LOCUS; GENE MAPPING; GENETIC LINKAGE; GENOTYPE; HAPLOTYPE; HUMAN; PEDIGREE; PHOSPHORUS NUCLEAR MAGNETIC RESONANCE; PHYSICAL EXAMINATION; POINT MUTATION; PRIORITY JOURNAL; SPASTICITY;

ATHETOSIS; CHOREA; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 1; CROSSING OVER, GENETIC; FEMALE; GENES, DOMINANT; HAPLOTYPES; HUMANS; LINKAGE (GENETICS); MALE; MICROSATELLITE REPEATS; MULTIGENE FAMILY; MUSCLE SPASTICITY; MUTATION; PEDIGREE; POTASSIUM CHANNELS; SPINOCEREBELLAR DEGENERATIONS;

EID: 0030027095     PISSN: 08887543     EISSN: None     Source Type: Journal    
DOI: 10.1006/geno.1996.0013     Document Type: Article

References (24)

1. Bain, P. G., O'Brien, M. D., Keevil, S. F., and Porter, D. A. (1992). Familial periodic cerebellar ataxia: A problem of cerebellar intracellular pH homeostasis. Ann. Neurol. 31: 147-154.
2. Browne, D. L., Gancher, S. T., Nutt, J. G., Brunt, E. R. P., Smith, E. R., Kramer, P., and Litt, M. (1994). Episodic ataxia/myokymia syndrome is associated with point mutations in the human potassium channel gene, KCNA1. Nature Genet. 8: 136-140.
3. Donat, J. W., and Auger, R. (1992). Familial periodic ataxia. Arch. Neurol. 36: 568-569.
4. Drager, G. A., Hammill, J. F., and Shy, G. M. (1958). Paramyotonia congenita. Arch. Neurol. 80: 1.
5. v1.3, a voltage-gated potassium channel (KCNA3) to the proximal short arm of human chromosome 1. Genomics 23: 295-296.
6. Gancher, S. T., and Nutt, J. G. (1986). Autosomal dominant episodic ataxia: A heterogeneous syndrome. Movement Disorders 1: 239-253.
7. v3.4 to human chromosomes 19 and 1. Genomics 12: 190-196.
8. Gyapay, G., Morisette, J., Vignal, A., Dib, C., Fizames, C., Millasseau, P., Marc, S., Bernardi, G., Lathrop, M., and Weissenbach, J. (1994). The 1993-1994 Généthon human genetic linkage map. Nature Genet. 7: 246-249.
9. Hawkes, C. H. (1992). Familial paroxysmal ataxia: Report of a family. J. Neurol. Neurosurg. Psychiat. 55: 212-213.
10. +-channel genes representing the four shaker-like subfamilies Shaker, Shab, Shaw, and Shal. Genomics 18: 568-574.
11. Lance, J. L. (1977). Familial paroxysmal dystonic choreoathetosis and its differentiation from related syndromes. Ann. Neurol. 2: 285-293.
12. Lathrop, G. M., Lalouel, J. M., Julier, C., and Ott, J. (1984). Strategies for multilocus linkage analysis in humans. Proc. Natl. Acad. Sci. USA 81: 3443-3446.
13. Litt, M., Kramer, P., Browne, D., Gancher, S., Brunt, E. R. P., Root, D., Phromchotikul, T., Dubay, C. J., and Nutt, J. (1994). A gene for episodic ataxia/myokymia maps to chromosome 12p13. Am. J. Hum. Genet. 55: 702-709.
14. Lock, L. F., Gilbert, D. J., Street, V. A., Migeon, M. B., Jenkins, N. A., Copeland, N. G., and Tempel, B. L. (1994). Voltage-gated potassium channel genes are clustered in paralogous regions of the mouse genome. Genomics 20: 354-362.
15. McClatchey, A., van den Bergh, P., Pericak-Vance, M., Raskind, W., Verellen, C., McKenna-Yasek, D., Rao, K., Haines, J., Bird, T., Brown, R. H., and Gusella, J. F. (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.
16. Parker, H. L. (1946). Periodic ataxia. Mayo Clinic Proc. 38: 642-645.
17. Pongs, O. (1992). Molecular biology of voltage-dependent potassium channels. Physiol. Rev. 72: S69-S88.
18. Ptácek, L. J., George, A. L., Griggs, R. C., Tawil, R., Kallen, R. G., Barchi, R. L., Robertson, M., and Leppert, M. F. (1991). Identification of a mutation in the gene causing hyperkalemic periodic paralysis. Cell 67: 1021-1027.
19. Ptácek, L. J., Tawil, R., Griggs, R. C., Engel, A. G., Layzer, R. B., Kwiecinski, H., McManis, P., Santiago, L., Moore, M., Fouad, G., Bradley, P., and Leppert, M. F. (1994). Dihydropyridine receptor mutations cause hypokalemic periodic paralysis. Cell 77: 863-868.
20. Riggs, J. E., and Griggs, R. C. (1979). Diagnosis and treatment of the periodic paralyses. In "Clinical Neuropharmacology" (H. L. Klawans, Ed.), Vol. 4, pp. 123-138, Raven Press, New York.
21. + channel α-subunit in hyperkalaemic periodic paralysis. Nature 354: 387-389.
22. Rudy, B. (1988). Diversity and ubiquity of K channels. Neuroscience 25: 729-749.
23. + channel which maps to chromosome 1 band p21. J. Neurosci. Res. 29: 401-412.
24. Streeten, D. H. P., Dalakos, T. G., and Fellermann, H. (1971). Studies on hyperkalaemic periodic paralysis. Evidence of changes in plasma Na and Cl and induction of paralysis by adrenal glucocorticoids. J. Clin. Invest. 50: 142.