Linkage mapping of dopa–responsive dystonia (DRD) to chromosome 14q (original) (raw)
Fahn, S., Marsden, C.D. & Calne, D.B. Classification and investigation of dystonia. In Movement disorders 2 (eds Marsden, C.D. & Fahn, S.) 332–358 (Butterworths, London, 1987). Google Scholar
Fahn, S. Clinical variants of idiopathic torsion dystonia. J. Neurol. Neurosurg. PsychiatrySupplement, 96–100 (1989). Article Google Scholar
Nygaard, T.G., Marsden, C.D. & Fahn, S. Dopa-responsive dystonia: Long-term treatment response and prognosis. Neurology41, 174–181 (1991). ArticleCASPubMed Google Scholar
Nygaard, T.G. An analysis of North American families with dopa-responsive dystonia. in Hereditary progressive dystonia with marked diurnal fluctuation (ed. Segawa, M.) 97–104 (Parthenon Publishing, Camforth, 1993). Google Scholar
Nygaard, T.G. Dopa-responsive dystonia: delineation of the clinical syndrome and clues to pathogenesis. Adv. Neurol.60, 577–585 (1993). CASPubMed Google Scholar
LeWitt, P.A. et al. Tetrahydrobiopterin in dystonia: identification of abnormal metabolism and therapeutic trials. Neurology36, 760–764 (1986). ArticleCASPubMed Google Scholar
Fink, J.K. et al. Dystonia with marked diurnal variation associated with biopterin deficiency. Neurology38, 707–711 (1988). ArticleCASPubMed Google Scholar
Fink, J.K. et al. Tetrahydrobiopterin administration in biopterin-deficient progressive dystonia with diurnal variation. Neurology39, 1393–1395 (1989). ArticleCASPubMed Google Scholar
Nygaard, T.G. et al. Long-term treatment response and fluorodopa positron emission tomographic scanning of parkinsonism in a family with dopa-responsive dystonia. Ann. Neurol.32, 603–608 (1992). ArticleCASPubMed Google Scholar
Rajput, A.H., Gibb, W.R.G., Kish, S.J. & Hornykiewicz, O. Dopa-responsive dystonia - clinical, pathological and biochemical studies in one case. Mov. Disord.7, 124 (1992).(Abstract) Google Scholar
Kwiatkowski, D.J. et al. Identification of a highly polymorphic microsatellite VNTR within the argininosuccinate synthetase locus: exclusion of the dystonia gene on 9q32–34 as the cause of dopa-responsive dystonia in a large kindred. Am. J. hum. Genet.48, 121–128 (1991). CASPubMedPubMed Central Google Scholar
Schuback et al. Dopamine β-hydroxylase gene excluded in four subtypes of hereditary dystonia. Hum. Genet.87, 311–316 (1991). ArticleCASPubMed Google Scholar
NIH/CEPH Collaborative Mapping Group, A Comprehensive Genetic Linkage Map of the Human Genome. Science258, 67–86 (1992).
Wang, Z.Y. & Weber, J.L. Continuous Linkage Map of Human Chromosome-14 Short Tandem Repeat Polymorphisms. Genomics13, 532–536 (1992). ArticleCASPubMed Google Scholar
Weissenbach, J. et al. A second-generation linkage map of the human genome. Nature359, 794–801 (1992). ArticleCASPubMed Google Scholar
Ozelius, L. et al. Human gene for torsion dystonia located on chromosome 9q32–q34. Neuron2, 1427–1434 (1989). ArticleCASPubMed Google Scholar
Kramer, P.L. et al. Dystonia gene in Ashkenazi Jewish population is located on chromosome 9q32–34. Ann. Neurol.27, 114–120 (1990). ArticleCASPubMed Google Scholar
Kupke, K.G., Lee, L.V. & Muller, U. Assignment of the X-linked torsion dystonia gene to Xq21 by linkage analysis. Neurology40, 1438–1442 (1990). ArticleCASPubMed Google Scholar
Wilhelmsen, K.C. et al. Genetic mapping of lubag (X-Linked Dystonia-Parkinsonism) in a Filipino kindred to the pericentromeric region of the: chromosome. Ann. Neurol.29, 124–131 (1991). ArticleCASPubMed Google Scholar
Zeman, W. Pathology of the torsion dystonias (dystonia musculorum deformans). Neurology20 (suppl 2), 79–88 (1970). ArticleCASPubMed Google Scholar
Hornykiewicz, O., Kish, S.J., Becker, L.E., Farley, I. & Shannak, K. Biochemical evidence for brain neurotransmitter changes in idiopathic torsion dystonia (dystonia musculorum deformans). Adv. Neurol.50, 157–165 (1988). CASPubMed Google Scholar
Altrocchi, P.H. & Forno, L.S. Spontaneous oral-facial dyskinesia: neuropathology of a case. Neurology33, 802–805 (1983). ArticleCASPubMed Google Scholar
Waters, C.H. Neuropathology of Lubag (X-linked dystonia-parkinsonism). Movement Disord.8, 387–390 (1993). ArticleCASPubMed Google Scholar
Bemheimer, H., Birkmayer, W., Hornykiewicz, O., Jellinger, K. & Seitelberger, F. Brain dopamine and the syndromes of Parkinson and Huntington: Clinical, morphological, and neurochemical correlations. J. neurol. Sci.20, 415–455 (1973). Article Google Scholar
McGeer, P.L., McGeer, E. G. & Suzuki, J. S. Aging and extrapyramidal function. Arch. Neurol.34, 33–35 (1977). ArticleCASPubMed Google Scholar
Hazan, J. et al. Autosomal dominant familial spastic paraplegia is genetically heterogeneous and one locus maps to chromosome 14q. Nature Genet.5, 163–167 (1993). ArticleCASPubMed Google Scholar
Nygaard, T.G., Trugman, J.M., de Yebenes, J. G. & Fahn, S. Dopa-responsive dystonia: The spectrum of clinical manifestations in a large North American family. Neurology40, 66–69 (1990). ArticleCASPubMed Google Scholar
Bressman, S.B. et al. Idiopathic dystonia among Ashkenazi Jews: evidence for autosomal dominant inheritance. Ann. Neurol.26, 612–620 (1989). ArticleCASPubMed Google Scholar
Sharma, V., Smith, L., Allen, L., Magenis, R.E. & Litt, M. Dinucleotide repeat polymorphism at the D14S43 locus. Nucl. Acids Res.19, 1722 (1991). ArticleCASPubMedPubMed Central Google Scholar
Kwiatkowski, D.J. et al. Construction of a GT polymorphism map of human 9q. Genomics12, 229–240 (1992). ArticleCASPubMed Google Scholar
Straub, R.E. et al. A microsatellite genetic linkage map of human chromosome-18. Genomics15, 48–56 (1993). ArticleCASPubMed Google Scholar
Lander, E.S. & Green, P. Construction of multilocus genetic linkage maps in humans. Proc. natn. Acad. Sci. U.S.A.84, 2363–2367 (1987). ArticleCAS Google Scholar
Cox, T.K., Perlin, M. & Chakravarti, A. MultiMap: automatic construction of linkage maps. Am. J. hum. Genet.51 (suppl 4), A33 (1992). Google Scholar
Dausset, J. Le centre d'etude du polymorphism humain. Presse Med.15, 1801–1802 (1986). CASPubMed Google Scholar
Lathrop, G.M., Lalouel, J.M., Julier, C. & Ott, J. Strategies for multilocus linkage analysis in humans. Proc. natn. Acad. Sci. U.S.A.81, 3443–3446 (1984). ArticleCAS Google Scholar
Braverman, M.S. An algorithm to improve the computational efficiency of genetic linkage analysis. Comp. biomed. Res.8, 24–36 (1985). Article Google Scholar