The ataxic Cacna1a-Mutant mouse rolling Nagoya: An overview of neuromorphological and electrophysiological findings

Cerebellum

Volumn 8, Issue 3, 2009, Pages 222-230

  Plomp, Jaap J ^a   Van Den Maagdenberg, Arn M J M ^a   Kaja, Simon ^b,c  

^a LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

^b UNIVERSITY OF BRITISH COLUMBIA   (Canada)

^c NEUROSEARCH A S   (Denmark)

Author keywords

Ataxia; Cav2.1 Ca 2+ channel; Cacna1a mutation; Rolling Nagoya mouse; Synaptic transmission

Indexed keywords

CALCIUM CHANNEL; PROTEIN CACNA1A; UNCLASSIFIED DRUG;

ATAXIA; BRAIN REGION; CALCIUM SIGNALING; CAUSAL ATTRIBUTION; CEREBELLUM; EATON LAMBERT SYNDROME; ELECTROPHYSIOLOGY; EPILEPSY; FAMILIAL HEMIPLEGIC MIGRAINE; GENE MUTATION; MISSENSE MUTATION; MOUSE MUTANT; NEUROMUSCULAR SYNAPSE; NEUROTRANSMITTER RELEASE; NONHUMAN; PRIORITY JOURNAL; PURKINJE CELL; REVIEW; SPINOCEREBELLAR DEGENERATION; SYNAPTIC TRANSMISSION;

ANIMALS; CALCIUM CHANNELS, P-TYPE; CALCIUM CHANNELS, Q-TYPE; CEREBELLAR ATAXIA; CEREBELLUM; DISEASE MODELS, ANIMAL; HUMANS; MICE; MICE, NEUROLOGIC MUTANTS; MODELS, BIOLOGICAL; NEUROMUSCULAR JUNCTION; SYNAPTIC TRANSMISSION;

EID: 69549112881     PISSN: 14734222     EISSN: 14734230     Source Type: Journal    
DOI: 10.1007/s12311-009-0117-5     Document Type: Review

References (73)

1. S Oda 1973 The observation of rolling mouse Nagoya (rol), a new neurological mutant, and its maintenance (author's transl) Jikken Dobutsu 22 281 288
2. Y Mori, et al. 2000 Reduced voltage sensitivity of activation of P/Q-type Ca2+ channels is associated with the ataxic mouse mutation rolling Nagoya (tg(rol)) J Neurosci 20 5654 5662
3. RE Westenbroek, et al. 1995 Immunochemical identification and subcellular distribution of the alpha 1A subunits of brain calcium channels J Neurosci 15 6403 6418
4. RE Westenbroek L Hoskins WA Catterall 1998 Localization of Ca2+ channel subtypes on rat spinal motor neurons, interneurons, and nerve terminals J Neurosci 18 6319 6330
5. RA Ophoff, et al. 1996 Familial hemiplegic migraine and episodic ataxia type-2 are caused by mutations in the Ca2+ channel gene CACNL1A4 Cell 87 543 552
6. VA Lennon, et al. 1995 Calcium-channel antibodies in the Lambert-Eaton syndrome and other paraneoplastic syndromes N Engl J Med 332 1467 1474
7. S Oda 1981 A new allele of the tottering locus, rolling mouse Nagoya, on chromosome no. 8 in the mouse Jpn J Genet 56 295 299
8. T Nakamura, et al. 2005 Taltirelin improves motor ataxia independently of monoamine levels in rolling mouse nagoya, a model of spinocerebellar atrophy Biol Pharm Bull 28 2244 2247
9. S Kaja, et al. 2007 Severely impaired neuromuscular synaptic transmission causes muscle weakness in the Cacna1a-mutant mouse rolling Nagoya Eur J Neurosci 25 2009 2020
10. Y Tamaki S Oda Y Kameyama 1986 Postnatal locomotion development in a neurological mutant of rolling mouse Nagoya Dev Psychobiol 19 67 77
11. JL Noebels 1984 Isolating single genes of the inherited epilepsies Ann Neurol 16 Suppl S18 S21
12. MC Green RL Sidman 1962 Tottering-a neuromusclar mutation in the mouse. And its linkage with oligosyndacylism J Hered 53 233 237
13. KG Sutton JE McRory H Guthrie TH Murphy TP Snutch 1999 P/Q-type calcium channels mediate the activity-dependent feedback of syntaxin-1A Nature 401 800 804
14. Y Mori, et al. 1991 Primary structure and functional expression from complementary DNA of a brain calcium channel Nature 350 398 402
15. TV Starr W Prystay TP Snutch 1991 Primary structure of a calcium channel that is highly expressed in the rat cerebellum Proc Natl Acad Sci U S A 88 5621 5625
16. A Ludwig V Flockerzi F Hofmann 1997 Regional expression and cellular localization of the alpha1 and beta subunit of high voltage-activated calcium channels in rat brain J Neurosci 17 1339 1349
17. NC Day, et al. 1997 Differential localization of voltage-dependent calcium channel alpha1 subunits at the human and rat neuromuscular junction J Neurosci 17 6226 6235
18. AM Van Den Maagdenberg J Haan GM Terwindt MD Ferrari 2007 Migraine: gene mutations and functional consequences Curr Opin Neurol 20 299 305
19. H Tomoda M Kato S Sakata F Shima 1992 Striatal dysfunction in Rolling mouse Nagoya: an electrophysiological study J Neurol Sci 112 106 112
20. K Sawada H Sakata-Haga M Ando N Takeda Y Fukui 2001 An increased expression of Ca(2+) channel alpha(1A) subunit immunoreactivity in deep cerebellar neurons of rolling mouse Nagoya Neurosci Lett 316 87 90
21. IJ Rhyu, et al. 1999 Morphologic investigation of rolling mouse Nagoya (tg(rol)/tg(rol)) cerebellar Purkinje cells: an ataxic mutant, revisited Neurosci Lett 266 49 52
22. YS Suh S Oda YH Kang H Kim IJ Rhyu 2002 Apoptotic cell death of cerebellar granule cells in rolling mouse Nagoya Neurosci Lett 325 1 4
23. K Sawada, et al. 1999 Abnormal expression of tyrosine hydroxylase immunoreactivity in cerebellar cortex of ataxic mutant mice Brain Res 829 107 112
24. EJ Hess MC Wilson 1991 Tottering and leaner mutations perturb transient developmental expression of tyrosine hydroxylase in embryologically distinct Purkinje cells Neuron 6 123 132
25. MC Austin, et al. 1992 Expression of tyrosine hydroxylase in cerebellar Purkinje neurons of the mutant tottering and leaner mouse Brain Res Mol Brain Res 15 227 240
26. K Sawada, et al. 2004 Abnormal expression of tyrosine hydroxylase not accompanied by phosphorylation at serine 40 in cerebellar Purkinje cells of ataxic mutant mice, rolling mouse Nagoya and dilute-lethal Congenit Anom (Kyoto) 44 46 50
27. BE Fureman DB Campbell EJ Hess 1999 L-type calcium channel regulation of abnormal tyrosine hydroxylase expression in cerebella of tottering mice Ann N Y Acad Sci 868 217 219
28. TA Brosenitsch DM Katz 2001 Physiological patterns of electrical stimulation can induce neuronal gene expression by activating N-type calcium channels J Neurosci 21 2571 2579
29. K Sawada, et al. 2003 Over-expression of corticotropin-releasing factor mRNA in inferior olivary neurons of rolling mouse Nagoya Brain Res Mol Brain Res 117 190 195
30. M Ando, et al. 2005 Regional difference in corticotropin-releasing factor immunoreactivity in mossy fiber terminals innervating calretinin-immunoreactive unipolar brush cells in vestibulocerebellum of rolling mouse Nagoya Brain Res 1063 96 101
31. GA Bishop CM Seelandt JS King 2000 Cellular localization of corticotropin releasing factor receptors in the adult mouse cerebellum Neuroscience 101 1083 1092
32. T Kanno S Suga K Nakano N Kamimura M Wakui 1999 Corticotropin-releasing factor modulation of Ca2+ influx in rat pancreatic beta-cells Diabetes 48 1741 1746
33. DB Campbell EJ Hess 1999 L-type calcium channels contribute to the tottering mouse dystonic episodes Mol Pharmacol 55 23 31
34. K Sawada, et al. 2008 Differential alterations in expressions of ryanodine receptor subtypes in cerebellar cortical neurons of an ataxic mutant, rolling mouse Nagoya Neuroscience 152 609 617
35. H Onodera S Takase S Oda I Sobue K Kogure 1988 Neurotransmitter receptors of the rolling mouse Nagoya: a quantitative autoradiographic study Neurosci Res 5 316 324
36. M Kato S Hosokawa S Tobimatsu Y Kuroiwa 1982 Increased local cerebral glucose utilization in the basal ganglia of the rolling mouse Nagoya J Cereb Blood Flow Metab 2 385 393
37. T Taniwaki H Shinoda Y Kaseda M Kato I Goto 1996 Increased preproenkephalin mRNA and preprotachykinin mRNA in the striatum of Rolling mouse Nagoya Brain Res 714 231 234
38. JT Walter K Alvina MD Womack C Chevez K Khodakhah 2006 Decreases in the precision of Purkinje cell pacemaking cause cerebellar dysfunction and ataxia Nat Neurosci 9 389 397
39. M Watanabe 2008 Molecular mechanisms governing competitive synaptic wiring in cerebellar Purkinje cells Tohoku J Exp Med 214 175 190
40. O Muramoto I Kanazawa K Ando 1981 Neurotransmitter abnormality in Rolling mouse Nagoya, an ataxic mutant mouse Brain Res 215 295 304
41. K Matsushita, et al. 2002 Bidirectional alterations in cerebellar synaptic transmission of tottering and rolling Ca2+ channel mutant mice J Neurosci 22 4388 4398
42. OD Uchitel, et al. 1992 P-type voltage-dependent calcium channel mediates presynaptic calcium influx and transmitter release in mammalian synapses Proc Natl Acad Sci U S A 89 3330 3333
43. JJ Plomp, et al. 2000 Abnormal transmitter release at neuromuscular junctions of mice carrying the tottering alpha(1A) Ca(2+) channel mutation Brain 123 463 471
44. S Kaja, et al. 2005 Gene dosage-dependent transmitter release changes at neuromuscular synapses of CACNA1A R192Q knockin mice are non-progressive and do not lead to morphological changes or muscle weakness Neuroscience 135 81 95
45. S Kaja, et al. 2007 Characterization of acetylcholine release and the compensatory contribution of non-Ca(v)2.1 channels at motor nerve terminals of leaner Ca(v)2.1-mutant mice Neuroscience 144 1278 1287
46. D Pietrobon 2002 Calcium channels and channelopathies of the central nervous system Mol Neurobiol 25 31 50
47. 2+ channel physiology and disease etiology Cell Mol Neurobiol 22 103 120
48. BW Soong HL Paulson 2007 Spinocerebellar ataxias: an update Curr Opin Neurol 20 438 446
49. JC Jen, et al. 2007 Primary episodic ataxias: diagnosis, pathogenesis and treatment Brain 130 2484 2493
50. M Ogawa 2004 Pharmacological treatments of cerebellar ataxia Cerebellum 3 107 111
51. K Kinoshita Y Watanabe H Asai M Yamamura Y Matsuoka 1995 Anti-ataxic effects of TRH and its analogue, TA-0910, in Rolling mouse Nagoya by metabolic normalization of the ventral tegmental area Br J Pharmacol 116 3274 3278
52. International Headache society 2004 The international classification of headache disorders: 2nd edition Cephalalgia 24 Suppl 1 9 160
53. D Pietrobon 2005 Function and dysfunction of synaptic calcium channels: insights from mouse models Curr Opin Neurobiol 15 257 265
54. AM Van Den Maagdenberg, et al. 2004 A Cacna1a knockin migraine mouse model with increased susceptibility to cortical spreading depression Neuron 41 701 710
55. EH Lambert D Elmqvist 1971 Quantal components of end-plate potentials in the myasthenic syndrome Ann N Y Acad Sci 183 183 199
56. RA Maselli, et al. 2001 Presynaptic congenital myasthenic syndrome due to quantal release deficiency Neurology 57 279 289
57. RA Maselli, et al. 2003 Presynaptic failure of neuromuscular transmission and synaptic remodeling in EA2 Neurology 61 1743 1748
58. WP Mason, et al. 1997 Small-cell lung cancer, paraneoplastic cerebellar degeneration and the Lambert-Eaton myasthenic syndrome Brain 120 1279 1300
59. CF Fletcher, et al. 1996 Absence epilepsy in tottering mutant mice is associated with calcium channel defects Cell 87 607 617
60. J Doyle X Ren G Lennon L Stubbs 1997 Mutations in the Cacnl1a4 calcium channel gene are associated with seizures, cerebellar degeneration, and ataxia in tottering and leaner mutant mice Mamm Genome 8 113 120
61. M Wakamori, et al. 1998 Single tottering mutations responsible for the neuropathic phenotype of the P-type calcium channel J Biol Chem 273 34857 34867
62. LS Dove LC Abbott WH Griffith 1998 Whole-cell and single-channel analysis of P-type calcium currents in cerebellar Purkinje cells of leaner mutant mice J Neurosci 18 7687 7699
63. NM Lorenzon CM Lutz WN Frankel KG Beam 1998 Altered calcium channel currents in Purkinje cells of the neurological mutant mouse leaner J Neurosci 18 4482 4489
64. TA Zwingman PE Neumann JL Noebels K Herrup 2001 Rocker is a new variant of the voltage-dependent calcium channel gene Cacna1a J Neurosci 21 1169 1178
65. T Kodama, et al. 2006 A CaV2.1 calcium channel mutation rocker reduces the number of postsynaptic AMPA receptors in parallel fiber-Purkinje cell synapses Eur J Neurosci 24 2993 3007
66. G Xie, et al. 2007 Forward genetic screen of mouse reveals dominant missense mutation in the P/Q-type voltage-dependent calcium channel, CACNA1A Genes Brain Behav 6 717 727
67. T Miki, et al. 2008 Two novel alleles of tottering with distinct Ca(v)2.1 calcium channel neuropathologies Neuroscience 155 31 44
68. K Jun, et al. 1999 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 U S A 96 15245 15250
69. CF Fletcher, et al. 2001 Dystonia and cerebellar atrophy in Cacna1a null mice lacking P/Q calcium channel activity FASEB J 15 1288 1290
70. O Zhuchenko, et al. 1997 Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the alpha 1A-voltage-dependent calcium channel Nat Genet 15 62 69
71. A Jouvenceau, et al. 2001 Human epilepsy associated with dysfunction of the brain P/Q-type calcium channel Lancet 358 801 807
72. P Imbrici, et al. 2004 Dysfunction of the brain calcium channel CaV2.1 in absence epilepsy and episodic ataxia Brain 127 2682 2692
73. DB Sanders 2003 Lambert-Eaton myasthenic syndrome: diagnosis and treatment Ann N Y Acad Sci 998 500 508