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Volumn 11, Issue 4, 1996, Pages 363-370

Linkage studies in alcohol-responsive myoclonic dystonia

Author keywords

Candidate gene; Linkage analysis; Myoclonic dystonia

Indexed keywords

4 AMINOBUTYRIC ACID A RECEPTOR; ALCOHOL; GLYCINE RECEPTOR; RECEPTOR SUBUNIT;

EID: 0030062198     PISSN: 08853185     EISSN: None     Source Type: Journal    
DOI: 10.1002/mds.870110403     Document Type: Article
Times cited : (24)

References (41)
  • 1
    • 0021476278 scopus 로고
    • The varied clinical expressions of dystonia
    • Fahn S. The varied clinical expressions of dystonia. Neurol Clin 1984;2:541-553.
    • (1984) Neurol Clin , vol.2 , pp. 541-553
    • Fahn, S.1
  • 2
    • 0024474833 scopus 로고
    • Clinical variants of idiopathic torsion dystonia
    • Fahn S. Clinical variants of idiopathic torsion dystonia. J Neurol Neurosurg Psychiatry Suppl 1989;52:96-100.
    • (1989) J Neurol Neurosurg Psychiatry Suppl , vol.52 , pp. 96-100
    • Fahn, S.1
  • 4
    • 0001071534 scopus 로고
    • Dominantly inherited myoclonic dystonia with dramatic response to alcohol
    • Quinn N, Marsden CD. Dominantly inherited myoclonic dystonia with dramatic response to alcohol. Neurology 1984; 34:236-237.
    • (1984) Neurology , vol.34 , pp. 236-237
    • Quinn, N.1    Marsden, C.D.2
  • 6
    • 0025084837 scopus 로고
    • Alcohol responsive myoclonic dystonia in a large family: Dominant inheritance and phenotypic variation
    • Kyllerman M, Forsgren L, Sanner G, Holmgren G, Wahlström J, Drugge U. Alcohol responsive myoclonic dystonia in a large family: dominant inheritance and phenotypic variation. Mov Disord 1990;5:270-279.
    • (1990) Mov Disord , vol.5 , pp. 270-279
    • Kyllerman, M.1    Forsgren, L.2    Sanner, G.3    Holmgren, G.4    Wahlström, J.5    Drugge, U.6
  • 7
    • 0014127906 scopus 로고
    • Hereditary essential myoclonus
    • Mahloudji M, Pikielny RT. Hereditary essential myoclonus. Brain 1967;90:669-674.
    • (1967) Brain , vol.90 , pp. 669-674
    • Mahloudji, M.1    Pikielny, R.T.2
  • 8
    • 0025740808 scopus 로고
    • Hereditary essential myoclonus in a large Norwegian family
    • Fahn S, Sjaastad O. Hereditary essential myoclonus in a large Norwegian family. Mov Disord 1991;6:237-247.
    • (1991) Mov Disord , vol.6 , pp. 237-247
    • Fahn, S.1    Sjaastad, O.2
  • 9
    • 0023763764 scopus 로고
    • Hereditary myoclonic dystonia, hereditary torsion dystonia and hereditary essential myoclonus: An area of confusion
    • Quinn NP, Rothwell JC, Thompson D, Marsden CD. Hereditary myoclonic dystonia, hereditary torsion dystonia and hereditary essential myoclonus: an area of confusion. Adv Neurol 1988;50:391-401.
    • (1988) Adv Neurol , vol.50 , pp. 391-401
    • Quinn, N.P.1    Rothwell, J.C.2    Thompson, D.3    Marsden, C.D.4
  • 10
    • 0024657745 scopus 로고
    • Human gene for torsion dystonia located on chromosome 9q32-q34
    • Ozelius L, Kramer PL, Moskowitz CB, et al. Human gene for torsion dystonia located on chromosome 9q32-q34. Neuron 1989;2:1427-1434.
    • (1989) Neuron , vol.2 , pp. 1427-1434
    • Ozelius, L.1    Kramer, P.L.2    Moskowitz, C.B.3
  • 11
    • 0025238901 scopus 로고
    • Dystonia gene in Ashkenazi Jewish population is located on chromosome 9q32-34
    • Kramer PL, DeLeon D, Ozelius L, et al. Dystonia gene in Ashkenazi Jewish population is located on chromosome 9q32-34. Ann Neurol 1990;27:114-120.
    • (1990) Ann Neurol , vol.27 , pp. 114-120
    • Kramer, P.L.1    DeLeon, D.2    Ozelius, L.3
  • 12
    • 0027930349 scopus 로고
    • The DYT1 gene on 9q34 is responsible for most cases of early limb-onset idiopathic torsion dystonia in non-Jews
    • Kramer P, Heiman HG, 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.
    • (1994) Am J Hum Genet , vol.55 , pp. 468-475
    • Kramer, P.1    Heiman, H.G.2    Gasser, T.3
  • 13
    • 0026629916 scopus 로고
    • Delineation of the dystonia-parkinsonism syndrome locus in Xq13
    • Graeber MB, Kupke KG, Müller U. Delineation of the dystonia-parkinsonism syndrome locus in Xq13. Proc Natl Acad Sci USA 1992;89:8245-8248.
    • (1992) Proc Natl Acad Sci USA , vol.89 , pp. 8245-8248
    • Graeber, M.B.1    Kupke, K.G.2    Müller, U.3
  • 14
    • 0027377709 scopus 로고
    • Linkage mapping of dopa-responsive dystonia (DRD) to chromosome 14q
    • Nygaard TG, Wilhelmsen KC, Risch NJ, et al. Linkage mapping of dopa-responsive dystonia (DRD) to chromosome 14q. Nature Genet 1993;5:386-391.
    • (1993) Nature Genet , vol.5 , pp. 386-391
    • Nygaard, T.G.1    Wilhelmsen, K.C.2    Risch, N.J.3
  • 15
    • 0028151448 scopus 로고
    • Hereditary progressive dystonia with marked diurnal fluctuations caused by mutations in the GTP cyclohydrolase I gene
    • Ichinose H, Ohye T, Takahashi E, et al. Hereditary progressive dystonia with marked diurnal fluctuations caused by mutations in the GTP cyclohydrolase I gene. Nature Genet 1994;8:236-242.
    • (1994) Nature Genet , vol.8 , pp. 236-242
    • Ichinose, H.1    Ohye, T.2    Takahashi, E.3
  • 16
    • 0025649547 scopus 로고
    • Hyperkalemic periodic paralysis and the adult muscle sodium channel gene
    • Fontaine B, Khurana TS, Hoffman EP, et al. Hyperkalemic periodic paralysis and the adult muscle sodium channel gene. Science 1990;25:1000-1002.
    • (1990) Science , vol.25 , pp. 1000-1002
    • Fontaine, B.1    Khurana, T.S.2    Hoffman, E.P.3
  • 17
    • 0025105161 scopus 로고
    • A point mutation of the rhodopsin gene in one form of retinitis pigmentosa
    • Dryja TP, McGee TL, Reichel E, et al. A point mutation of the rhodopsin gene in one form of retinitis pigmentosa. Nature 1990;343:364-366.
    • (1990) Nature , vol.343 , pp. 364-366
    • Dryja, T.P.1    McGee, T.L.2    Reichel, E.3
  • 19
    • 0027330927 scopus 로고
    • Mutations in the alpha I subunit of the inhibitory glycine receptor cause the dominant neurologic disorder, hyperekplexia
    • Shiang R, Ryan SG, Ya-Zhen Zhu, Hahn AF, O'Conell P, Wasmuth JJ. Mutations in the alpha I subunit of the inhibitory glycine receptor cause the dominant neurologic disorder, hyperekplexia. Nature Genet 1993;5:351-357.
    • (1993) Nature Genet , vol.5 , pp. 351-357
    • Shiang, R.1    Ryan, S.G.2    Zhu, Y.-Z.3    Hahn, A.F.4    O'Conell, P.5    Wasmuth, J.J.6
  • 20
    • 0028333002 scopus 로고
    • A point mutation in the gene encoding the α1 subunit of the inhibitory glycine receptor causes the spasmodic mouse phenotype and establishes its homology to human hyperekplexia
    • Ryan SG, Buckwalter MS, Lych JW, et al. A point mutation in the gene encoding the α1 subunit of the inhibitory glycine receptor causes the spasmodic mouse phenotype and establishes its homology to human hyperekplexia. Nature Genet 1994;7:131-135.
    • (1994) Nature Genet , vol.7 , pp. 131-135
    • Ryan, S.G.1    Buckwalter, M.S.2    Lych, J.W.3
  • 21
    • 0028175530 scopus 로고
    • Glycine receptor β-subunit gene mutation in the spastic mouse associated with LINE-1 element insertion
    • Kingsmore SF, Giros B, Suh D, et al. Glycine receptor β-subunit gene mutation in the spastic mouse associated with LINE-1 element insertion. Nature Genet 1994;7:136-141.
    • (1994) Nature Genet , vol.7 , pp. 136-141
    • Kingsmore, S.F.1    Giros, B.2    Suh, D.3
  • 22
    • 0022454621 scopus 로고
    • Linkage analysis in a family with dominantly inherited torsion dystonia: Exclusion of the pro-opiomelanocortin and glutamic acid decarboxylase genes and other chromosomal regions using DNA polymorphisms
    • Breakefield XO, Bressman SB, Kramer PL, et al. Linkage analysis in a family with dominantly inherited torsion dystonia: exclusion of the pro-opiomelanocortin and glutamic acid decarboxylase genes and other chromosomal regions using DNA polymorphisms. J Neurogenet 1986;3:159-175.
    • (1986) J Neurogenet , vol.3 , pp. 159-175
    • Breakefield, X.O.1    Bressman, S.B.2    Kramer, P.L.3
  • 23
    • 0024582686 scopus 로고
    • Abundant class of human DNA polymorphisms which can be typed using the polymerase chain reaction
    • Weber JL, May PE. Abundant class of human DNA polymorphisms which can be typed using the polymerase chain reaction. Am J Hum Genet 1989;44:388-396.
    • (1989) Am J Hum Genet , vol.44 , pp. 388-396
    • Weber, J.L.1    May, P.E.2
  • 24
    • 0028079991 scopus 로고
    • Mapping of the beta-2 subunit gene (GABRB2) to microdissected human chromosome 5q34-q35 defines a gene cluster for the most abundant GABA-A receptor isoform
    • Russek SJ, Farb DH. Mapping of the beta-2 subunit gene (GABRB2) to microdissected human chromosome 5q34-q35 defines a gene cluster for the most abundant GABA-A receptor isoform. Genomics 1994;23:528-533.
    • (1994) Genomics , vol.23 , pp. 528-533
    • Russek, S.J.1    Farb, D.H.2
  • 25
    • 0028231090 scopus 로고
    • The 1993-1994 Genethon human linkage map
    • Gyapay G, Morisette J, Vignal A, et al. The 1993-1994 Genethon human linkage map. Nature Genet 1994;7:246-339.
    • (1994) Nature Genet , vol.7 , pp. 246-339
    • Gyapay, G.1    Morisette, J.2    Vignal, A.3
  • 26
    • 0026564251 scopus 로고
    • Confirmation of the localization of the human GABA-A receptor alpha 1-subunit gene (GABRA1) to distal 5q by linkage analysis
    • Johnson KHJ, Sander T, Hicks AA, et al. Confirmation of the localization of the human GABA-A receptor alpha 1-subunit gene (GABRA1) to distal 5q by linkage analysis. Genomics 1992;14:745-748.
    • (1992) Genomics , vol.14 , pp. 745-748
    • Johnson, K.H.J.1    Sander, T.2    Hicks, A.A.3
  • 27
    • 0026906585 scopus 로고
    • Dinucleotide repeat polymorphism at the GABA-A receptor alpha 5 (GABRA5) locus at chromosome 15q11-q13
    • Glatt KA, Sinnett D, Lalande M. Dinucleotide repeat polymorphism at the GABA-A receptor alpha 5 (GABRA5) locus at chromosome 15q11-q13. Hum Mol Genet 1992;1:348.
    • (1992) Hum Mol Genet , vol.1 , pp. 348
    • Glatt, K.A.1    Sinnett, D.2    Lalande, M.3
  • 28
    • 0026849410 scopus 로고
    • Dinucleotide repeat polymorphism at the GABA-A receptor beta 3 (GABRB3) locus in the Angelman/ Prader-Willi region (AS/PWS) of chromosome 15
    • Mutirangura A, Ledbetter SA, Kuwano A, Chinault AC, Ledbetter DH. Dinucleotide repeat polymorphism at the GABA-A receptor beta 3 (GABRB3) locus in the Angelman/ Prader-Willi region (AS/PWS) of chromosome 15. Hum Mol Genet 1992;1:67.
    • (1992) Hum Mol Genet , vol.1 , pp. 67
    • Mutirangura, A.1    Ledbetter, S.A.2    Kuwano, A.3    Chinault, A.C.4    Ledbetter, D.H.5
  • 29
    • 0027996651 scopus 로고
    • The spastic mouse: Aberrant splicing of glycine receptor beta subunit mRNA caused by intronic insertion of L1 element
    • Mulhardt C, Fischer M, Gass P, et al. The spastic mouse: aberrant splicing of glycine receptor beta subunit mRNA caused by intronic insertion of L1 element. Neuron 1994;13: 1003-1015.
    • (1994) Neuron , vol.13 , pp. 1003-1015
    • Mulhardt, C.1    Fischer, M.2    Gass, P.3
  • 32
    • 0027406233 scopus 로고
    • A procedure for combining two-point lod scores into a summary multipoint map
    • Curtis D, Gurling HMD. A procedure for combining two-point lod scores into a summary multipoint map. Hum Hered 1993;43:173-185.
    • (1993) Hum Hered , vol.43 , pp. 173-185
    • Curtis, D.1    Gurling, H.M.D.2
  • 33
    • 0014234289 scopus 로고
    • A simple method of estimating the segregation ratio under complete ascertainment
    • Li CC, Mantel N. A simple method of estimating the segregation ratio under complete ascertainment. Am J Hum Genet 1968;20:61-81.
    • (1968) Am J Hum Genet , vol.20 , pp. 61-81
    • Li, C.C.1    Mantel, N.2
  • 36
  • 37
    • 0008563464 scopus 로고
    • Diurnally fluctuating hereditary progressive dystonia
    • Vinken PH, Bruyn GW, Klawans HL, eds. New York: Elsevier Science Publishers
    • Segawa M, Nomura Y, Käse M. Diurnally fluctuating hereditary progressive dystonia. In: Vinken PH, Bruyn GW, Klawans HL, eds. Handbook of clinical neurology. New York: Elsevier Science Publishers, 1986:529-539.
    • (1986) Handbook of Clinical Neurology , pp. 529-539
    • Segawa, M.1    Nomura, Y.2    Käse, M.3
  • 38
    • 0026516209 scopus 로고
    • Temperature-sensitive mutations in the III-IV cytoplasmic loop region of the skeletal muscle sodium channel gene in paramyotonia congenita
    • McClatchey AI, Van den Bergh P, Pericak-Vance MA, et al. Temperature-sensitive mutations in the III-IV cytoplasmic loop region of the skeletal muscle sodium channel gene in paramyotonia congenita. Cell 1992;68:769-774.
    • (1992) Cell , vol.68 , pp. 769-774
    • McClatchey, A.I.1    Van Den Bergh, P.2    Pericak-Vance, M.A.3
  • 39
    • 0025932040 scopus 로고
    • + channel subunit in hyperkalaemic periodic paralysis
    • + channel subunit in hyperkalaemic periodic paralysis. Nature 1991;354:387-389.
    • (1991) Nature , vol.354 , pp. 387-389
    • Rojas, C.V.1    Wang, J.2    Schwartz, L.3
  • 40
    • 0028124225 scopus 로고
    • Episodic ataxia/ myokymia syndrome is associated with point mutations in the human potassium channel gene, KCNA1
    • Browne DL, Gancher ST, Nutt JG, et al. Episodic ataxia/ myokymia syndrome is associated with point mutations in the human potassium channel gene, KCNA1. Nature Genet 1994;8:136-140.
    • (1994) Nature Genet , vol.8 , pp. 136-140
    • Browne, D.L.1    Gancher, S.T.2    Nutt, J.G.3
  • 41
    • 0028256151 scopus 로고
    • The gene for familial dystonia with myoclonic jerks responsive to alcohol is not located on the distal end of 9q
    • Wahlström J, Ozelius L, Kramer P, et al. The gene for familial dystonia with myoclonic jerks responsive to alcohol is not located on the distal end of 9q. Clin Genet 1994;45:88-92.
    • (1994) Clin Genet , vol.45 , pp. 88-92
    • Wahlström, J.1    Ozelius, L.2    Kramer, P.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.