Mouse models of dystonia

Movement Disorders

Volumn , Issue , 2005, Pages 265-277

  Hess, Ellen J ^a   Jinnah, H A ^a  

^a JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

EID: 30844453816     PISSN: None     EISSN: None     Source Type: Book    
DOI: 10.1016/B978-012088382-0/50022-0     Document Type: Chapter

References (133)

1. Abbott L.C., Bump M., Brandl A., De Laune S. Investigation of the role of the cerebellum in the myoclonic-like movement disorder exhibited by tottering mice. Mov Disord 2000, 15(Suppl):S53-S59.
2. Abbott L.C., Isaacs K.R., Heckroth J.A. Co-localization of tyrosine hydroxylase and zebrin II immunoreactivities in Purkinje cells of the mutant mice, tottering, and tottering/leaner. Neuroscience 1996, 71:461-475.
3. Aldea M., Jun K., Shin H.S., Andres-Mateos E., Solis-Garrido L.M., Montiel C., Garcia A.G., Albillos A. A perforated patch-clamp study of calcium currents and exocytosis in chromaffin cells of wildtype and alpha(1A) knockout mice. J Neurochem 2002, 81:911-921.
4. Althini S., Bengtsson H., Usoskin D., Soderstrom S., Kylberg A., Lindqvist E., Chuva de Sousa Lopes S., et al. Normal nigrostriatal innervation but dopamine dysfunction in mice carrying hypomorphic tyrosine hydroxylase alleles. J Neurosci Res 2003, 72:444-453.
5. Arpa J., Cuesta A., Cruz-Martinez A., Santiago S., Sarria J., Palau F. Clinical features and genetic analysis of a Spanish family with spinocerebellar ataxia 6. Acta Neurol Scand 1999, 99:43-47.
6. Augood S.J., Martin D.M., Ozelius L.J., Breakefield X.O., Penney J.B., Standaert D.G. Distribution of the mRNAs encoding torsinA and torsinB in the normal adult human brain. Ann Neurol 1999, 46:761-769.
7. Bernier G., Kothary R. Prenatal onset of axonopathy in Dystonia musculorum mice. Dev Genet 1998, 22:160-168.
8. Bianchi M., Rovati L.C., Sacerdote P., Mategazza P., Panerai A.E. Effect of drugs belonging to different classes of calcium channel blockers on experimental seizures induced by the calcium channel agonist Bay K 8644. Neurosci Res 1990, 6:157-162.
9. Bode V.C., McDonald J.D., Guenet J.L., Simon D. hph-1: a mouse mutant with hereditary hyperphenylalaninemia induced by ethylnitrosourea mutagenesis. Genetics 1988, 118:299-305.
10. Bolger G.T., Weissman B.A., Skolnick P. The behavioral effects of the calcium agonist Bay K 8644 in the mouse: antagonism by the calcium antagonist nifedipine. Naunyn Schmiedebergs Arch Pharmacol 1985, 328:373-377.
11. Bourson A., Moser P.C., Gower A.J., Mir A.K. Central and peripheral effects of the dihydropyridine calcium channel activator BAY K 8644 in the rat. Eur J Pharmacol 1989, 160:339-347.
12. Brown A., Bernier G., Mathieu M., Rossant J., Kothary R. The mouse dystonia musculorum gene is a neural isoform of bullous pemphigoid antigen 1. Nat Genet 1995, 10:301-306.
13. Brown A., Copeland N.G., Gilbert D.J., Jenkins N.A., Rossant J., Kothary R. The genomic structure of an insertional mutation in the dystonia musculorum locus. Genomics 1994, 20:371-376.
14. Buchner D.A., Trudeau M., Meisler M.H. SCNM1, a putative RNA splicing factor that modifies disease severity in mice. Science 2003, 301:967-969.
15. Buiakova O.I., Xu J., Lutsenko S., Zeitlin S., Das K., Das S., Ross B.M., et al. Null mutation of the murine ATP7B (Wilson disease) gene results in intracellular copper accumulation and late-onset hepatic nodular transformation. Hum Mol Genet 1999, 8:1665-1671.
16. Burgess D.L., Kohrman D.C., Galt J., Plummer N.W., Jones J.M., Spear B., Meisler M.H. Mutation of a new sodium channel gene, Sen8a, in the mouse mutant "motor endplate disease". Nat Genet 1995, 10:461-465.
17. Cabin D.E., Shimazu K., Murphy D., Cole N.B., Gottschalk W., Mellwain K.L., Orrison B., et al. Synaptic vesicle depletion correlates with attenuated synaptic responses to prolonged repetitive stimulation in mice lacking alpha-synuclein. J Neurosci 2002, 22:8797-8807.
18. Campbell D.B., Hess E.J. Cerebellar circuitry is activated during convulsive episodes in the tottering (tg/tg) mutant mouse. Neuroscience 1998, 85:773-783.
19. Campbell D.B., Hess E.J. L-type calcium channels contribute to the tottering mouse dystonic episodes. Mol Pharmacol 1999, 55:23-31.
20. Campbell D.B., North J.B., Hess E.J. Tottering mouse motor dysfunction is abolished on the Purkinje cell degeneration (pcd) mutant background. Exp Neurol 1999, 160:268-278.
21. Ceballos-Baumann A.O., Brooks D.J. Activation positron emission tomography scanning in dystonia. Adv Neurol 1998, 78:135-152.
22. Cemal C.K., Carroll C.J., Lawrence L., Lowrie M.B., Ruddle P., Al-Mahdawi S., King R.H., et al. YAC transgenic mice carrying pathological alleles of the MJDI locus exhibit a mild and slowly progressive cerebellar deficit. Hum Mol Genet 2002, 11:1075-1094.
23. 1A subunit of the P/Q-type calcium channel. EMBO J 1997, 16:4591-4596.
24. Chen K., Sprunger L.K., Meisler M.H., Waller H.J., Godfrey D.A. Reduced spontaneous activity in the dorsal cochlear nucleus of Scn8a mutant mice. Brain Res 1999, 847:85-89.
25. D'Hooge R., Van Dam D., Franck F., Gieselmann V., De Deyn P.P. Hyperactivity, neuromotor defects, and impaired learning and memory in a mouse model for metachromatic leukodystrophy. Brain Res 2001, 907:35-43.
26. Dalpe G., Leclerc N., Vallee A., Messer A., Mathieu M., De Repentigny Y., Kothary R. Dystonin is essential for maintaining neuronal cytoskeleton organization. Mol Cell Neurosci 1998, 10:243-257.
27. Dauer W., Goodchild R. Mouse models of torsin A dysfunction. Adv Neurol 2004, 94:67-72.
28. De Repentigny Y., Deschenes-Furry J., Jasmin B.J., Kothary R. Impaired fast axonal transport in neurons of the sciatic nerves from dystonia musculorum mice. J Neurochem 2003, 86:564-571.
29. De Sarro G., Ascioti C., di Paola E.D., Vidal M.J., De Sarro A. Effects of anti-epileptic drugs, calcium channel blockers and other compounds on seizures induced by activation of voltage-dependent L calcium channel in DBA/2 mice. Gen Pharmacol 1992, 23:1205-1216.
30. Dick D.J., Boakes R.J., Harris J.B. A cerebellar abnormality in the mouse with motor end-plate disease. Neuropathol Appl Neurobiol 1985, 11:141-147.
31. Dove L.S., Abbott L.C., Griffith W.H. Whole-cell and single-channel analysis of P-type calcium currents in cerebellar Purkinje cells of leaner mutant mice. J Neurosci 1998, 18:7687-7699.
32. Dowling J., Yang Y., Wollmann R., Reichardt L.F., Fuchs E. Developmental expression of BPA G1-n: insights into the spastic ataxia and gross neurologic degeneration in dystonia musculorum mice. Dev Biol 1997, 187:131-142.
33. Doyle J., Ren X., Lennon G., Stubbs L. Mutations in the Caenlla4 calcium channel gene are associated with seizures, cerebellar degeneration, and ataxia in tottering and leaner mutant mice. Mamm Genome 1997, 8:113-120.
34. Duchen L.W. Dystonia musculorum-an inherited disease of the nervous system in the mouse. Adv Neurol 1976, 14:353-365.
35. Duchen L.W., Falconer D.S., Strich S.J. Dystonia musculorum an hereditary neuropathy of mice affecting mainly sensory pathways. J Physiol 1963, 165:7.
36. Duchen L.W., Searle A.G., Strich S.J. An hereditary motor endplate disease in the mouse. J Physiol 1967, 189:4P-6P.
37. Duchen L.W., Strich S.J., Falconer D.S. Clinical and pathological studies of an hereditary neuropathy in mice (dystonia musculorum). Brain 1964, 87:367-378.
38. Eicher E.M., Hoppe P.C. Use of chimeras to transmit lethal genes in the mouse and to demonstrate allelism of the two X-linked male lethal genes jp and msd. J Exp Zool 1973, 183:181-184.
39. Eidelberg D., Moeller J.R., Antonini A., Kazumata K., Nakamura T., Dhawan V., Spetsieris P., et al. Functional brain networks in DYT1 dystonia. Ann Neurol 1998, 44:303-312.
40. Eilam R., Peter Y., Elson A., Rotman G., Shiloh Y., Groner Y., Segal M. Selective loss of dopaminergic nigro-striatal neurons in brains of Atm-deficient mice. Proc Natl Acad Sci USA 1998, 95:12653-12656.
41. Fahn S., Marsden C.D. The paroxysmal dyskinesias. Movement Disorders 3 1994, 310-347. Butterworth-Heinemann, Oxford. C.D. Marsden, S. Fahn (Eds.).
42. Fernagut P.O., Diguet E., Stefanova N., Biran M., Wenning G.K., Canioni P., Bioulac B., Tison F. Subacute systemic 3-nitropropionic acid intoxication induces a distinct motor disorder in adult C57B1/6 mice: behavioural and histopathological characterisation. Neuroscience 2002, 114:1005-1017.
43. Fletcher C.F., Lutz C.M., O'Sullivan T.N., Shaughnessy J.D., Hawkes R., Frankel W.N., Copeland N.G., Jenkins N.A. Absence epilepsy in tottering mutant mice is associated with calcium channel defects. Cell 1996, 87:607-617.
44. Fletcher C.F., Tottene A., Lennon V.A., Wilson S.M., Dubel S.J., Paylor R., Hosford D.A., et al. Dystonia and cerebellar atrophy in Cacnala null mice lacking P/Q calcium channel activity. FASEB J 2001, 15:1288-1290.
45. Garcia K.D., Sprunger L.K., Meisler M.H., Beam K.G. The sodium channel Scn8a is the major contributor to the postnatal developmental increase of sodium current density in spinal motoneurons. J Neurosci 1998, 18:5234-5239.
46. Giasson B.I., Duda J.E., Quinn S.M., Zhang B., Trojanowski J.Q., Lee V.M. Neuronal alpha-synucleinopathy with severe movement disorder in mice expressing A 53T human alpha-synuclein. Neuron 2002, 34:521-533.
47. Giffin N.J., Benton S., Goadsby P.J. Benign paroxysmal torticollis of infancy: four new cases and linkage to CACNA1A mutation. Dev Med Child Neurol 2002, 44:490-493.
48. Goldberg M.S., Fleming S.M., Palacino J.J., Cepeda C., Lam H.A., Bhatnagar A., Meloni E.G., et al. Parkin-deficient mice exhibit nigrostriatal deficits but not loss of dopaminergic neurons. J Biol Chem 2003, 278:43628-43635.
49. Gomez-Isla T., Irizarry M.C., Mariash A., Cheung B., Soto O., Schrump S., Sondel J., et al. Motor dysfunction and gliosis with preserved dopaminergic markers in human alpha-synuclein A30P transgenic mice. Neurobiol Aging 2003, 24:245-258.
50. Green M.C., Sidman R.L. Tottering-a neuromuscular mutation in the mouse. J Hered 1962, 53:233-237.
51. Guo L., Degenstein L., Dowling J., Yu Q.C., Wollmann R., Perman B., Fuchs E. Gene targeting of BPAG1: abnormalities in mechanical strength and cell migration in stratified epithelia and neurologic degeneration. Cell 1995, 81:233-243.
52. Gupta P., Soyombo A.A., Atashband A., Wisniewski K.E., Shelton J.M., Richardson J.A., Hammer R.E., Hofmann S.L. Disruption of PPT1 or PPT2 causes neuronal ceroid lipofuscinosis in knockout mice. Proc Natl Acad Sci USA 2001, 98:13566-13571.
53. Hamann M., Meisler M.H., Richter A. Motor disturbances in mice with deficiency of the sodium channel gene Scn8a show features of human dystonia. Exp Neurol 2003, 184:830-838.
54. Harris J.B., Boakes R.J., Court J.A. Physiological and biochemical studies on the cerebellar cortex of the murine mutants "jolting" and "motor end-plate disease". J Neurol Sci 1992, 110:186-194.
55. Harris J.B., Pollard S.L. Neuromuscular transmission in the murine mutants "motor end-plate disease" and "jolting". J Neurol Sci 1986, 76:239-253.
56. Heckroth J.A., Abbott L.C. Purkinje cell loss from alternating sagittal zones in the cerebellum of leaner mutant mice. Brain Res 1994, 658:93-104.
57. Heller A.H., Dichter M.A., Sidman R.L. Anticonvulsant sensitivity of absence seizures in the tottering mutant mouse. Epilepsia 1983, 25:25-34.
58. Herrup K., Wilczynski S.L. Cerebellar cell degeneration in the leaner mutant mouse. Neuroscience 1982, 7:2185-2196.
59. Hess E.J., Wilson M.C. Tottering and leaner mutations perturb transient developmental expression of tyrosine hydroxylase in embrylogically distinct Purkinje cells. Neuron 1991, 6:123-132.
60. Hutchinson M., Nakamura T., Moeller J.R., Antonini A., Belakhlef A., Dhawan V., Eidelberg D. The metabolic topography of essential blepharospasm: a focal dystonia with general implications. Neurology 2000, 55:673-677.
61. Ichinose H., Ohye T., Takahashi E., Seki N., Hori T., Segawa M., Nomura Y. Hereditary progressive dystonia with marked diurnal fluctuation caused by mutations in the GTP cyclohydrolase I gene. Nat Genet 1994, 8:236-242.
62. Ikeda H., Yamaguchi M., Sugai S., Aze Y., Narumiya S., Kakizuka A. Expanded polyglutamine in the Machado-Joseph disease protein induces cell death in vitro and in vivo. Nat Genet 1996, 13:196-202.
63. Ikeda M., Mikuni M., Nishikawa T., Takahashi K. A neurochemical study of a new mutant mouse presenting myoclonus-like involuntary movement: a possible model of spontaneous serotonergic hyperactivity. Brain Res 1989, 495:337-348.
64. Inoue Y., Matsumura Y., Inoue K., Ichikawa R., Takayama C. Abnormal synaptic architecture in the cerebellar cortex of a new dystonic mutant mouse, wriggle mouse Sagami. Neurosci Res 1993, 16:39-48.
65. Isaacs K.R., Abbott L.C. Cerebellar volume decreases in the tottering mouse are specific to the molecular layer. Brain Res Bull 1995, 36:309-314.
66. Ishikawa K., Shibanoki S., Kubo T., Kogure M., Imamura Y., Osawa N., Ohmura M., Mikoshiba K. Functional difference in monoamine transmitters in the behaviorally abnormal mouse mutant (wriggle mouse Sagami). Neurosci Lett 1989, 103:343-348.
67. Jankovic J., Fahn S. Dystonic disorders. Parkinson's Disease and Movement Disorders 1998, 513-551. Williams & Wilkins, Baltimore. J. Jankovic, E. Tolosa (Eds.).
68. Janota I. Ultrastructural studies of an hereditary sensory neuropathy in mice (dystonia musculorum). Brain 1972, 95:529-536.
69. Jinnah H.A., Egami K., Rao L., Shin M., Kasim S., Hess E.J. Expression of c-fos in the brain after activation of L-type calcium channels. Dev Neurosci 2003, 25:403-411.
70. Jinnah H.A., Gage F.H., Friedmann T. Amphetamine-induced behavioral phenotype in a hypoxanthine-guanine phosphoribosyl-transferase deficient mouse model of Lesch-Nyhan syndrome. Behav Neurosci 1991, 105:1004-1012.
71. Jinnah H.A., Sepkuty J.P., Ho T., Yitta S., Drew T., Rothstein J.D., Hess E.J. Calcium channel agonists and dystonia in the mouse. Mov Disord 2000, 15:542-551.
72. Jun K., Piedras-Renteria E.S., Smith S.M., Wheeler D.B., Lee S.B., Lee T.G., Chin H., et al. Ablation of P/Q-type Ca(2+) channel currents, altered synaptic transmission, and progressive ataxia in mice lacking the alpha(1A)-subunit. Proc Natl Acad Sci USA 1999, 96:15245-15250.
73. Kaplan B.J., Seyfried T.N., Glaser G.H. Spontaneous polyspike discharges in an epileptic mutant mouse (tottering). Exp Neurol 1979, 66:577-586.
74. Kearney J.A., Buchner D.A., De Haan G., Adamska M., Levin S.I., Furay A.R., Albin R.L., et al. Molecular and pathological effects of amodifier gene on deficiency of the sodium channel Scn8a (Na(v)1.6). Hum Mol Genet 2002, 11:2765-2775.
75. 2+ channels with presynaptic SNARE proteins. Proc Natl Acad Sci USA 1997, 94:14782-14786.
76. Kluge A., Kettner B., Zschenderlein R., Sandrock D., Munz D.L., Hesse S., Meierkord H. Changes in perfusion pattern using ECDSPECT indicate frontal lobe and cerebellar involvement in exerciseinduced paroxysmal dystonia. Mov Disord 1998, 13:125-134.
77. Koeller D.M., Woontner M., Crnic L.S., Kleinschmidt-DeMasters B., Stephens J., Hunt E.L., Goodman S.I. Biochemical, pathologic and behavioral analysis of a mouse model of glutaric acidemia type I. Hum Mol Genet 2002, 11:347-357.
78. Kohrman D.C., Harris J.B., Meisler M.H. Mutation detection in the med and medJ alleles of the sodium channel Scn8a. Unusual splicing due to a minor class AT-AC intron. J Biol Chem 1996, 271:17576-17581.
79. Kohrman D.C., Smith M.R., Goldin A.L., Harris J., Meisler M.H. A missense mutation in the sodium channel Scn8a is responsible for cerebellar ataxia in the mouse mutant jolting. J Neurosci 1996, 16:5993-5999.
80. Kothary R., Clapoff S., Brown A., Campbell R., Peterson A., Rossant J. A transgene containing lacZ inserted into the dystonia locus is expressed in neural tube. Nature 1988, 335:435-437.
81. Kumazawa T., Adachi K., Ando K. Concentrations of atecholamines and indoleamines in the central nervous system of wriggle mouse Sagami. Comp Biochem Physiol. C. 1989, 93:167-169.
82. Lalonde R., Joyal C.C., Botez M.I. Exploration and motor coordination in dystonia musculorum mutant mice. Physiol Behav 1994, 56:277-280.
83. Landis S.C., Mullen R.J. The development and degeneration of Purkinje cells in pcd mutant mice. J Comp Neurol 1978, 177:125-144.
84. LeDoux M.S., Lorden J.F., Ervin J. Cerebellectomy eliminates the motor syndrome of the genetically dystonic rat. Exp Neurol 1993, 120:302-310.
85. Lee M.K., Stirling W., Xu Y., Xu X., Qui D., Mandir A.S., Dawson T.M., et al. Human alpha-synuclein-harboring familial Parkinson's disease-linked Ala-53 ?Thr mutation causes neurodegenerative disease with alpha-synuclein aggregation in transgenic mice. Proc Natl Acad Sci USA 2002, 99:8968-8973.
86. Levitt P. Normal pharmacological and morphometric parameters in the noradrenergic hyperinnervated mutant mouse, "tottering". Cell Tissue Res 1988, 252:175-180.
87. Levitt P., Noebels J.L. Mutant mouse tottering: selective increase of locus ceruleus axons in a defined single-locus mutation. Proc Natl Acad Sci USA 1981, 78:4630-4634.
88. Liu X., Luo X., Hu W. Studies on the epidemiology and etiology of moldy sugarcane poisoning in China. Biomed Environ Sci 1992, 5:161-177.
89. Lorden J.F., Oltmans G.A., Stratton S., Mays L.E. Neuropharmacological correlates of the motor syndrome of the genetically dystonic (dt) rat. Dystonia 2 1988, 277-297. Raven Press, New York. S. Fahn (Ed.).
90. Lorenzon N.M., Lutz C.M., Frankel W.N., Beam K.G. Altered calcium channel currents in Purkinje cells of the neurological mutant mouse leaner. J Neurosci 1998, 18:4482-4489.
91. Marsden C.D., Quinn N.P. The dystonias. Brit Med J 1990, 300:139-144.
92. Maurice N., Tkatch T., Meisler M., Sprunger L.K., Surmeier D.J. D1/D5 dopamine receptor activation differentially modulates rapidly inactivating and persistent sodium currents in prefrontal cortex pyramidal neurons. J Neurosci 2001, 21:2268-2277.
93. Mazziotta J.C., Hutchinson M., Fife T.D., Woods R. Advanced neuroimaging methods in the study of movement disorders: dystonia and blepharospasm. Adv Neurol 1998, 78:153-160.
94. McGeer E.G., McGeer P.L. The dystonias. Can J Neurol Sci 1988, 15:447-483.
95. Meier H., MacPike A.D. A neurological mutation (msd) of the mouse causing a deficiency of myelin synthesis. Exp Brain Res 1970, 10:512-525.
96. Meier H., MacPike D. Three syndromes produced by two mutant genes in the mouse. J Hered 1971, 62:297-302.
97. Messer A., Gordon D. Changes in whole tissue biosynthesis of gamma-amino butyric acid (GABA) in basal ganglia of the dystonia (dtAlb) mouse. Life Sci 1979, 25:2217-2221.
98. Messer A., Strominger N.L. An allele of the mouse mutant dystonia musculorum exhibits lesions in red nucleus and striatum. Neuroscience 1980, 5:543-549.
99. Morris M.D., Bhuvaneswaran C., Shio H., Fowler S. Lysosome lipid storage disorder in NCTR-BALB/c mice. 1. Deseription of the disease and genetics. Am J Pathol 1982, 108:140-149.
100. Noebels J.L. A single geneerror of noradrenergic axon growth synchronizes central neurons. Nature 1984, 310:409-411.
101. Noebels J.L., Sidman R.L. Inherited epilepsy: spike-wave and focal motor seizures in the mutant mouse tottering. Science 1979, 204:1334-1336.
102. Nutt J.G., Muenter M.D., Aronson A., Kurland L.T., Melton L.J. Epidemiology of focal and generalised dystonia in Rochester, Minnesota. Mov Disord 1988, 3:188-194.
103. O'Neill S.K., Bolger G.T. Enantiomer selectivity and the development of tolerance to the behavioral effects of the calcium channel activator BAY K 8644. Brain Res Bull 1988, 21:865-872.
104. Odergren T., Stone-Elander S., Ingvar M. Cerebral and cerebellar activation in correlation to the action-induced dystonia in writer's cramp. Mov Disord 1998, 13:497-508.
105. Ondo W.G., Desaloms J.M., Jankovic J., Grossman R.G. Pallidotomy for generalized dystonia. Mov Disord 1998, 13:693-698.
106. Ophoff R.A., Terwindt G.M., Vergouwe M.N., van Eijk R., Oefner P.J., Hoffman S.M., Lamerdin J.E., et al. Familial hemiplegic migraine and episodic ataxia type-2 are caused by mutations in the Ca2+channel gene CACNLIA4. Cell 1996, 87:543-652.
107. Pagani R., Song M., McEnery M., Qin N., Tsien R.W., Toro L., Stefani E., Uchitel O.D. Differential expression of alphal and beta subunits of voltage dependent Ca2+channel at the neuromuscular junction of normal and P/Q Ca2+ channel knockout mouse. Neuroscience 2004, 123:75-85.
108. Palmer G.C., Stagnitto M.L., Ray R.K., Knowles M.A., Harvey R., Garske G.E. Anticonvulsant properties of calcium channel blockers in mice: N-methyl-D-L-aspartate- and Bay K 8644-induced convulsions are potently blocked by the dihydropyridines. Epilepsia 1993, 34:372-380.
109. Petersen F.N. Bay K 8644 induces a reversible spasticity-like syndrome in rats. Eur J Pharmacol 1986, 130:323-326.
110. Pizoli C.E., Jinnah H.A., Billingsley M.L., Hess E.J. Abnormal cerebellar signaling induces dystonia in mice. J. Neurosci 2002, 22:7825-7833.
111. Playford E.D., Passingham R.E., Marsden C.D., Brooks D.J. Increased activation of frontal areas during arn movement in idiopathic torsion dystonia. Mov Disord 1998, 13:309-318.
112. Qian J., Noebels J.L. Presynaptic Ca(2+) influx at a mouse central synapse with Ca(2+) channel subunit mutations. J Neurosci 2000, 20:163-170.
113. Raman I.M., Sprunger L.K., Meisler M.H., Bean B.P. Altered subthreshold sodium currents and disrupted firing patterns in Purkinje neurons of Sen8a mutant mice. Neuron 1997, 19:881-891.
114. Rampe D., Anderson B., Rapien-Pryor V., Li T., Dage R.C. Comparison of the in vitro and in vivo cardiovascular effects of two structurally distinct Ca++ channel activators, BAY K 8644 and FPL 64176. J Pharmacol Exp Ther 1993, 265:1125-1130.
115. 2+ channels with the presynaptic proteins syntaxin and SNAP-25. Proc Natl Acad Sci USA 1996, 93:7363-7368.
116. Rhyu I.J., Abbott L.C., Walker D.B., Sotelo C. An ultrastructural study of granule cell/Purkinje cell synapses in tottering (tg/tg), leaner (tg(la)/tg(la)) and compound heterozygous tottering/leaner (tg/tg(la)) mice. Neuroscience 1999, 90:717-728.
117. Richter A., Loscher W. Pathology of idiopathic dystonia: findings from genetic animal models. Prog Neurobiol 1998, 54:633-677.
118. Saulnier R., De Repentigny Y., Yong V.W., Kothary R. Alterations in myelination in the central nervous system of dystonia musculorum mice. J Neurosci Res 2002, 69:233-242.
119. Shelton R.C., Grebb J.A., Freed W.J. Induction of seizures in mice by intracerebroventricular administration of the calcium channel agonist BAY K 8644. Brain Res 1987, 402:399-402.
120. Sotelo C., Guenet J.L. Pathologic changes in the CNS of dystonia musculorum mutant mouse: an animal model for human spinocerebellar ataxia. Neuroscience 1988, 27:403-424.
121. Sprunger L.K., Escayg A., Tallaksen-Greene S., Albin R.L., Meisler M.H. Dystonia associated with mutation of the neuronal sodium channel Scn8a and identification of the modifier locus Scnml on mouse chromosome 3. Hum Mol Genet 1999, 8:471-479.
122. Takahashi K., Kitamura K. A point mutation in a plasma membrane Ca(2+)-ATPase gene causes deafness in wriggle mouse Sagami. Biochem Biophys Res Commun 1999, 261:773-778.
123. Takahashi K., Osawa N., Ohmura M., Kitamura K. Evaluation of innerear histology and auditory brainstem response in wriggle mouse Sagami. Acta Otolaryngal 1999, 119:767-772.
124. Tsuji S., Meier H. Evidence for allelism of leaner and tottering in the mouse. Genet Res 1971, 17:83-88.
125. Vitek J.L. Pathophysiology of dystonia: a neuronal model. Mov Disord 2002, 17:S49-S62.
126. Voikar V., Rauvala H., Ikonen E. Cognitive deficit and development of motor impaiment in a mouse model of Niemann-Pick type C disease. Behav Brain Res 2002, 132:1-10.
127. Wakarmori M., Yamazaki K., Matsunodaira H. Single tottering mutations responsible for the neuropathic phenotype of the P-type calcium channel. J Biol Chem 1998, 52:34857-34867.
128. Wang Q., Bardgett M.E., Wong M., Wozniak D.F., Lou J., McNeil B.D., Chen C., et al. Ataxia and paroxysmal dyskinesia in mice lacking axonally transported FGF14. Neuron 2002, 35:25-38.
129. Yang Y., Bauer C., Strasser G., Wollman R., Julien J.P., Fuchs E. Integrators of the cytoskeleton that stabilize microtubules. Cell 1999, 98:229-238.
130. Yoon C.H. Disturbances in developmental pathways leading to a neurological disorder of genetic origin "leaner", in mice. Dev Biol 1969, 20:158-181.
131. Zheng W., Rampe D., Triggle D.J. Pharmacological, radioligand binding, and electrophysiological characteristics of FPL 64176, a novel nondihydropyridine Ca2+ channel activator, in cardiac and vascular preparations. Mol Pharmacol 1991, 40:734-741.
132. Zhou Y.D., Turner T.J., Dunlap K. Enhanced G protein-dependent modulation of excitatory synaptic transmission in the cerebellum of the Ca2+ channel-mutant mouse, tottering. J Physiol 2003, 547:497-507.
133. Zhuchenko O., Bailey J., Bonnen P., Ashizawa T., Stockton D.W., Amos C., Dobyns W.B., et al. Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the alpha 1A-voltage-dependent calcium channel. Nat Genet 1997, 15:62-69.