Calcium channelopathies in the central nervous system

Current Opinion in Neurobiology

Volumn 9, Issue 3, 1999, Pages 274-280

  Joanna, Jen ^a  

^a UNIVERSITY OF CALIFORNIA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CALCIUM CHANNEL; PROTEIN SUBUNIT;

ALLELE; ANIMAL CELL; ATAXIA; CENTRAL NERVOUS SYSTEM; CHANNEL GATING; GENE MUTATION; HUMAN; HUMAN CELL; MIGRAINE; MISSENSE MUTATION; NERVE DEGENERATION; NEUROLOGIC DISEASE; NEUROPATHY; NONHUMAN; PRIORITY JOURNAL; REVIEW;

EID: 0033153435     PISSN: 09594388     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0959-4388(99)80040-3     Document Type: Article

References (52)

1. Ptácek LJ: Channelopathies: Ion channel disorders of muscle as a paradigm for paroxysmal disorders of the nervous system. Neuromusc Disord 1997, 7:250-255.
2. Mori Y, Friedrich T, Kim MS, Mikami A, Nakai J, Ruth P, Bosse E, Hofmann F, Flockerzi V, Furuichi T et al.: Primary structure and functional expression from complementary DNA of a brain calcium channel. Nature 1991, 350:398-402.
3. 2+ channel gene CACNL1A4. Cell 1996, 87:543-552.
4. Zhuchenko O, Bailey J, Bonnen P, Ashizawa T, Stockton DW, Amos C, Dobyns WB, Subramony SH, Zoghbi HY, Lee CC: Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the alpha 1A-voltage-dependent calcium channel. Nat Genet 1997, 15:62-69.
5. Joutel A, Bousser MG, Biousse V, Labauge P, Chabriat H, Nibbio A, Maciazek J, Meyer B, Bach MA, Weissenbach J et al.: A gene for familial hemiplegic migraine maps to chromosome 19. Nat Genet 1993, 5:40-45.
6. Vahedi K, Joutel A, Van Bogaert P, Ducros A, Maciazeck J, Bach JF, Bousser MG, Tournier-Lasserve E: A gene for hereditary paroxysmal cerebellar ataxia maps to chromosome 19p. Ann Neurol 1995, 37:289-293.
7. Kramer PL, Yue Q, Gancher ST, Nutt JG, Baloh R, Smith E, Browne D, Bussey K, Lovrien E, Nelson S et al.: A locus for the nystagmus-associated form of episodic ataxia maps to an 11-cM region on chromosome 19p. Am J Hum Genet 1995, 57:182-185.
8. Teh BT, Silburn P, Lindblad K, Betz R, Boyle R, Schalling M, Larsson C: Familial periodic cerebellar ataxia without myokymia maps to a 19-cM region on 19p13. Am J Hum Genet 1995, 56:1443-1449.
9. Griggs RC, Nutt JG: Episodic ataxias as channelopathies. Ann Neurol 1995, 37:285-287.
10. Ducros A, Denier C, Joutel A, Vahedi K, Michel A, Darcel F, Madigand M, Guerouaou D, Tison F, Julien J et al.: Recurrence of the T666M calcium channel CACNA1A gene mutation in familial hemiplegic migraine with progressive cerebellar ataxia. Am J Hum Genet 1999, 64:89-98.
11. Yue Q, Jen JC, Thwe MM, Nelson SF, Baloh RW: De novo mutation in CACNA1A caused acetazolamide-responsive episodic ataxia. Am J Med Genet 1998, 77:298-301.
12. Geschwind DH, Perlman S, Figueroa KP, Karrim J, Baloh RW, Pulst SM: Spinocerebellar ataxia type 6. Frequency of the mutation and genotype-phenotype correlations. Neurology 1997, 49:1247-1251.
13. Jodice C, Mantuano E, Veneziano L, Trettel F, Sabbadini G, CaLandriello L, Francia A, Spadaro M, Pierelli F, Salvi F et al.: Episodic ataxia type 2 (EA2) and spinocerebellar ataxia type 6 (SCA6) due to CAG repeat expansion in the CACNA1A gene on chromosome 19p. Hum Mol Genet 1997, 6:1973-1978.
14. Jen JC, Yue Q, Karrim J, Nelson SF, Baloh RW: Spinocerebellar ataxia type 6 with positional vertigo and acetazolamide responsive episodic ataxia. J Neurol Neurosurg Psychiatry 1998, 65:565-568.
15. Yue Q, Jen JC, Nelson SF, Baloh RW: Progressive ataxia due to a missense mutation in a calcium-channel gene. Am J Hum Genet 1997, 61:1078-1087.
16. Jen J, Yue Q, Nelson S, Yu H, Litt M, Nutt J, Baloh RW: A novel nonsense mutation in CACNA1A causing episodic ataxia and hemiplegia. Neurology 1999, 53:in press.
17. Catterall WA: Molecular properties of sodium and calcium channels. J Bioenerg Biomembr 1996, 28:219-230.
18. 2+ channels: Role in channel function. Trends Neurosci 1998, 21:148-154.
19. Snutch TP, Tomlinson WJ, Leonard JP, Gilbert MM: Distinct calcium channels are generated by alternative splicing and are differentially expressed in the mammalian CNS. Neuron 1991, 7:45-57.
20. Tanaka O, Sakagami H, Kondo H: Localization of mRNAs of voltage-dependent Ca(2+)-channels: Four subtypes of alpha 1-and beta-subunits in developing and mature rat brain. Brain Res Mol Brain Res 1995, 30:1-16.
21. Pinto A, Gillard S, Moss F, Whyte K, Brust P, Williams M, Stauderman K, Harpold M, Lang B, Newsom-Davis J et al.: Human autoantibodies specific for the alpha1A calcium channel subunit reduce both P-type and Q-type calcium currents in cerebellar neurons. Proc Natl Acad Sci USA 1998, 95:8328-8333.
22. Kim YI, Neher E: IgG from patients with Lambert-Eaton syndrome blocks voltage-dependent calcium channels. Science 1988, 239:405-408.
23. Lennon VA, Kryzer TJ, Griesmann GE, O'Suilleabhain PE, Windebank AJ, Woppmann A, Miljanich GP, Lambert EH: Calcium-channel antibodies in the Lambert-Eaton syndrome and other paraneoplastic syndromes. N Engl J Med 1995, 332:1467-1474.
24. Hoffmeyer S, Nürnberg P, Ritter H, Fahsold R, Leistner W, Kaufmann D, Krone W: Nearby stop codons in exons of the neurofibromatosis type 1 gene are disparate splice effectors. Am J Hum Genet 1998, 62:269-277.
25. 2+ channels. J Neurosci 1998, 18:641-647.
26. Paulson HL: Protein fate in neurodegenerative proteinopathies: Polyglutamine diseases join the (Mis)fold. Am J Hum Genet 1999, 64:339-345.
27. 2+ channel kinetics. J Biol Chem 1998, 273:5586-5590.
28. Hans M, Luvisetto S, Williams ME, Spagnolo M, Urrutia A, Tottene A, Brust PF, Johnson EC, Harpold MM, Stauderman KA et al.: Functional consequences of mutations in the human alpha1A calcium channel subunit linked to familial hemiplegic migraine. J Neurosci 1999, 19:1610-1619.
29. Fletcher CF, Lutz CM, O'Sullivan TN, Shaughnessy JD Jr, Hawkes R, Frankel WN, Copeland NG, Jenkins NA: Absence epilepsy in tottering mutant mice is associated with calcium channel defects. Cell 1996, 87:607-617.
30. 2+ channel beta subunit gene Cchb4 is associated with ataxia and seizures in the lethargic (lh) mouse. Cell 1997, 88:385-392.
31. 2+-channel gamma subunit Nat Genet 1998, 19:340-347.
32. Noebels JL, Sidman RL: Inherited epilepsy: Spike-wave and focal motor seizures in the mutant mouse tottering. Science 1979, 204:1334-1336.
33. Heckroth JA, Abbott LC: Purkinje cell loss from alternating sagittal zones in the cerebellum of leaner mutant mice. Brain Res 1994, 658:93-104.
34. Oda SI: A new allele of the tottering locus, rolling mouse nagoya, on chromosome 8 in the mouse. Jpn J Genet 1981, 56:295-299.
35. Lau FC, Abbott LC, Rhyu IJ, Kim DS, Chin H: Expression of calcium channel alpha1A mRNA and protein in the leaner mouse (tgla/tgla) cerebellum. Brain Res Mol Brain Res 1998, 59:93-99.
36. Lorenzon NM, Lutz CM, Frankel WN, Beam KG: Altered calcium channel currents in Purkinje cells of the neurological mutant mouse leaner. J Neurosci 1998, 18:4482-4489.
37. Dove LS, Abbott LC, Griffith WH: 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.
38. Wakamori M, Yamazaki K, Matsunodaira H, Teramoto T, Tanaka I, Niidome T, Sawada K, Nishizawa Y, Sekiguchi N, Mori E et al.: Single tottering mutations responsible for the neuropathic phenotype of the P-type calcium channel. J Biol Chem 1998, 273:34857-34867.
39. Ludwig A, Flockerzi V, Hofmann F: Regional expression and cellular localization of the alpha1 and beta subunit of high voltage-activated calcium channels in rat brain. J Neurosci 1997, 17:1339-1349.
40. McEnery MW, Copeland TD, Vance CL: Altered expression and assembly of N-type calcium channel alpha1b and beta subunits in epileptic lethargic (lh/lh) mouse. J Biol Chem 1998, 273:21435-21438.
41. + channel Kir 2.3 to PSD-95 is regulated by protein kinase A phosphorylation. Neuron 1996, 17:759-767.
42. Catterall WA: Modulation of sodium and calcium channels by protein phosphorylation and G proteins. Adv Second Messenger Phosphoprotein Res 1997, 31:159-181.
43. Sheng ZH, Westenbroek RE, Catterall WA: Physical link and functional coupling of presynaptic calcium channels and the synaptic vesicle docking/fusion machinery. J Bioenerg Biomembr 1998, 30:335-345.
44. Qiao X, Hefti F, Knusel B, Noebels JL: Selective failure of brain-derived neurotrophic factor mRNA expression in the cerebellum of stargazer, a mutant mouse with ataxia. J Neurosci 1996, 16:640-648.
45. Qiao X, Chen L, Gao H, Bao S, Hefti F, Thompson RF, Knusel B: Cerebellar brain-derived neurotrophic factor-TrkB defect associated with impairment of eyeblink conditioning in Stargazer mutant mice. J Neurosci 1998, 18:6990-6999.
46. 2+ influx regulates BDNF transcription by a CREB family transcription factor-dependent mechanism. Neuron 1998, 20:709-726. [Published erratum appears in Neuron 1998, 20:1297.]
47. Shieh PB, Hu SC, Bobb K, Timmusk T, Ghosh A: Identification of a signaling pathway involved in calcium regulation of BDNF expression. Neuron 1998, 20:727-740.
48. Gardner K, Barmada MM, Ptacek LJ, Hoffman EP: A new locus for hemiplegic migraine maps to chromosome 1q31. Neurology 1997, 49:1231-1238.
49. Ducros A, Joutel A, Vahedi K, Cecillon M, Ferreira A, Bernard E, Verier A, Echenne B, Lopez de Munain A, Bousser MG et al.: Mapping of a second locus for familial hemiplegic migraine to 1q21-q23 and evidence of further heterogeneity. Ann Neurol 1997, 42:885-890.
50. Browne DL, Gancher ST, Nutt JG, Brunt ER, Smith EA, Kramer P, Litt M: Episodic ataxia/myokymia syndrome is associated with point mutations in the human potassium channel gene, KCNA1. Nat Genet 1994, 8:136-140.
51. Matsumoto M, Nakagawa T, Inoue T, Nagata E, Tanaka K, Takano H, Minowa O, Kuno J, Sakakibara S, Yamada M et al.: Ataxia and epileptic seizures in mice lacking type 1 inositol 1,4,5-trisphosphate receptor. Nature 1996, 379:168-171.
52. Street VA, Bosma MM, Demas VP, Regan MR, Lin DD, Robinson LC, Agnew WS, Tempel BL: The type 1 inositol 1,4,5-trisphosphate receptor gene is altered in the opisthotonos mouse. J Neurosci 1997, 17:635-645. Many genes containing CAG repeat expansions encoding polyglutamines cause dominantly inherited neurodegenerative disorders, including Huntington's disease, dentatorubropallidoluysian atrophy, spinobulbar atrophy, and spinocerebellar ataxias. Relatively small and stable expansions of polymorphic CAG repeats in CACNA1A are associated with a progressive cerebellar syndrome of late onset now called SCA6. This is the only SCA in which the involved gene has a known function. SCA6 may not share the same mechanism as those operating in other polyglutamine disorders. Although missense mutations in CACNA1A had been thought to be associated with hemiplegic migraine, these authors identified a missence mutation causing a phenotype that overlaps with EA2 and SCA6. The authors demonstrate decreased P-type current in Purkinje cells and P-and Q-type currents in granule cells using α1A-specific autoantibodies from patients with Lambert-Eaton myasthenic syndrome, a paraneoplastic condition characterized by weakness and fatigability from impaired acetylcholine release at the neuromuscular junction. The authors propose that a 95 kDa protein that coprecipitates with the P/Q-type calcium channels is a truncated α1A subunit because it interacts with β subunits, is recognized by anti-α1A antibodies, and contains sequences present in the first two domains of α1A. Whether this protein is a proteolytic product of α1A has not been definitively ruled out however. Preliminary whole-cell recordings from rabbit α1A subunit mutants containing missense FHM mutations co-expressed with β1a and α2-δ in Xenopus oocytes show an altered rate of recovery from inactivation. Detailed whole-cell, single-channel recordings of heterologously expressed human cDNA containing FHM mutations demonstrate altered biophysical properties of the mutant gene products. The authors propose that state switching of mutant channels between normal and abnormal conductance states triggers episodic attacks, whereas mutations leading to decreased calcium entry cause cerebellar atrophy and progressive ataxia. This is the first demonstration that a defect in a gene encoding a modulatory subunit of the calcium channel complex is responsible for a mouse mutant with ataxia and seizures indistinguishable from another mouse mutant tottering, which has a defective gene encoding a pore-forming calcium channel subunit. The authors identified the underlying genetic defect in a mutant mouse with seizures. The gene product has been named γ2 because it shares structural homology with the calcium channel γ subunit in muscle. The authors demonstrated brain-specific expression of the defective gene, the product of which is predicted to increase calcium entry.