The skeletal muscle channelopathies: Distinct entities and overlapping syndromes

Current Opinion in Neurology

Volumn 16, Issue 5, 2003, Pages 559-568

  Davies, Nicholas P ^a   Hanna, Michael G ^b  

^a QUEEN ELIZABETH HOSPITAL   (United Kingdom)

^b NATIONAL HOSPITAL FOR NEUROLOGY AND NEUROSURGERY   (United Kingdom)

Author keywords

Genetic diagnosis; Ion channel; Skeletal muscle channelopathy

Indexed keywords

ACETAZOLAMIDE; AMIODARONE; BETA 2 ADRENERGIC RECEPTOR STIMULATING AGENT; CHLORIDE CHANNEL; CLENBUTEROL; CREATINE; DICLOFENAMIDE; IMIPRAMINE; ION CHANNEL; MEXILETINE; POTASSIUM CHLORIDE; SODIUM CHANNEL; THIAZIDE DIURETIC AGENT;

CLINICAL FEATURE; CLINICAL TRIAL; DIAGNOSTIC TEST; DISEASE CLASSIFICATION; DNA DETERMINATION; EPILEPSY; GASTROINTESTINAL TOXICITY; GENETIC HETEROGENEITY; GENOTYPE; GLYCOGEN STORAGE DISEASE TYPE 4; HUMAN; MIGRAINE; MOLECULAR GENETICS; MYOTONIC DYSTROPHY; NEUROPHYSIOLOGY; NONHUMAN; PERIODIC PARALYSIS; PHENOTYPE; PROGNOSIS; REVIEW; SCHWARTZ JAMPEL SYNDROME; SINGLE DRUG DOSE; THOMSEN DISEASE; TREATMENT OUTCOME;

ANIMALS; CALCIUM CHANNELS; CHLORIDE CHANNELS; HUMANS; ION CHANNELS; MUSCLE, SKELETAL; NEUROMUSCULAR DISEASES; POTASSIUM CHANNELS; SODIUM CHANNELS;

EID: 0142105849     PISSN: 13507540     EISSN: None     Source Type: Journal    
DOI: 10.1097/00019052-200310000-00001     Document Type: Review

References (55)

1. Davies NP, Hanna MG. The neurological channelopathies. In: Scolding NJ, editor. Contemporary treatments in neurology. Edinburgh: Butterworth-Heinemann; 2001. pp. 400-440.
2. Davies NP, Hanna MG. The skeletal muscle ion channelopathies: basic science, clinical genetics and treatment. Curr Opinion Neurol 2001; 14:539-551.
3. Plassart E, Eymard B, Maurs L, et al. Paramyotonia congenita: genotype to phenotype correlations in two families and report of a new mutation in the sodium channel gene. J Neurol Sci 1996; 142:126-133.
4. Kim J, Hahn Y, Sohn EH, et al. Phenotypic variation of a Thr704Met mutation in skeletal sodium channel gene in a family with paralysis periodica paramyotonica. J Neurol Neurosurg Psychiatry 2001; 70:618-623.
5. McClatchey AI, McKenna-Yasek D, Cros D, et al. Novel mutations in families with unusual and variable disorders of the skeletal muscle sodium channel. Nat Genet 1992; 2:148-152.
6. Ptacek LJ, Gouw L, Kwiecinski H, et al. Sodium channel mutations in paramyotonia congenita and hyperkalaemic periodic paralysis. Ann Neurol 1993; 33:300-307.
7. Wagner S, Lerche H, Mitrovic N, et al. A novel sodium channel mutation causing a hyperkalaemic paralytic and paramyotonic syndrome with variable clinical expressivity. Neurology 1997; 49:1018-1025.
8. Okuda S, Kanda F, Nishimoto K, et al. Hyperkalaemic periodic paralysis and paramyotonia: a novel sodium channel mutation. J Neurol 2001; 248:1003-1004.
9. Kelly P, Yang WS, Costigan D, et al. Paramyotonia congenita and hyperkalaemic periodic paralysis associated with a Met1592Val substitution in the skeletal muscle sodium channel alpha subunit: a large kindred with a novel phenotype. Neuromusc Disord 1997; 7:105-111.
10. Cannon SC. An expanding view for the molecular basis of familial periodic paralysis. Neuromusc Disord 2002; 12:533-543.
11. Hayward LJ, Sandoval GM, Cannon SC. Defective slow inactivation of sodium channels contributes to familial periodic paralysis. Neurology 1999; 52:1447-1453.
12. Davies NP, Eunson LH, Samuel M, et al. Sodium channel gene mutations in hypokalaemic periodic paralysis: an uncommon cause in the UK. Neurology 2001; 57:1323-1325.
13. Sternberg D, Maisonobe T, Jurkat-Rott K, et al. Hypokalaemic periodic paralysis type 2 caused by mutations at codon 672 in the muscle sodium channel gene SCN4A. Brain 2001; 124:1091-1099.
14. Kuzmenkin A, Muncan V, Jurkat-Rott K, et al. Enhanced inactivation and pH sensitivity of Na+ channel mutations causing hypokalaemic periodic paralysis type II. Brain 2002; 125:835-843. This is an interesting paper providing evidence for mutation specific therapeutic responses in hypoPP due to SCN4A mutations.
15. Struyk AF, Scoggan KA, Bulman DE, et al. The human skeletal muscle sodium channel mutation R699H associated with hypokalemic periodic paralysis enhances slow inactivation. J Neurosci 2000; 20:8610-8617.
16. Andelfinger G, Tapper AR, Welch RC, et al. KCNJ2 mutation results in Andersen syndrome with sex-specific cardiac and skeletal muscle phenotypes. Am J Hum Genet 2002; 71:663-668.
17. Davies NP, Imbrici P, Herd C, et al. Andersen's syndrome: a skeletal muscle potassium channel disorder. J Neurol Sci 2002; 199 (Suppl 1):S54. p.44.
18. Donaldson MR, Jensen JL, Tristani-Firouzi M, et al. Novel mutations in KCNJ2 identify a common pathogenic mechanism of Andersen-Tawil syndrome (in press).
19. Tristani-Firouzi M, Jensen JL, Donaldson MR, et al. Functional and clinical characterisation of KCNJ2 mutations associated with LQT7 (Andersen syndrome). J Clin Invest 2002; 110:381-388.
20. Plaster NM, Tawil R, Tristani-Firouzi M, et al. Mutations in Kir2.1 cause the developmental and episodic electrical phenotypes of Andersen's syndrome. Cell 2001; 105:511-519.
21. Ai T, Fujiwara Y, Tsuji K, et al. Novel KCNJ2 mutation in familial paralysis with ventricular dysrhythmia. Circulation 2002; 105:2592-2594.
22. Karschin C, Karschin A. Ontogeny of gene expression of Kir channel subunits in the rat. Mol Cell Neurosci 1997; 10:131-148.
23. 2 interactions underlie channelopathies. Neuron 2002; 34:933-944. This is an excellent study highlighting the importance of Kir-phosphatidylinositol 4,5-bisphosphate interactions and their significance regarding disease-causing mutations in Andersen syndrome.
24. Preisig-Muller R, Schlichthorl G, Goerge T, et al. Heteromerization of Kir2.x potassium channels contributes to the phenotype of Andersen's syndrome. Proc Natl Acad Sci U S A 2002; 99:7774-7779. This is an elegant study providing insight into the mechanisms of marked phenotypic variability in Andersen syndrome.
25. Abbott GW, Butler MH, Bendahhou S, et al. MiRP2 forms potassium channels in skeletal muscle with Kv3.4 and is associated with periodic paralysis. Cell 2001; 104:217-231.
26. Caciotti A, Morone A, Domenici R, et al. Severe prognosis in a large family with hypokalaemic periodic paralysis. Muscle Nerve 2003; 27:165-169.
27. Kuntzer T, Flocard F, Vial C, et al. Exercise test in muscle channelopathies and other muscle disorders. Muscle Nerve 2000; 23:1089-1094.
28. Chinnery PF, Hanna MG, Walls T, et al. Normokalaemic periodic paralysis: does it exist? Ann Neurol 52:251-252.
29. Tawil R, McDermott MP, Brown Jr R, et al. Randomized trials of dichlorphenamide in the periodic paralyses. Ann Neurol 2000; 47:46-53.
30. Junker J, Haverkamp W, Schulze-Bahr E, et al. Amiodarone and acetazolamide for the treatment of genetically confirmed severe Andersen syndrome. Neurology 2002; 59:466.
31. Davies NP, Hanna MG. Neurological channelopathies: diagnosis and therapy in the new millennium. Ann Med 1999; 31:406-420.
32. Koty PP, Pegoraro E, Hobson G, et al. Myotonia and the muscle chloride channel: dominant mutations show variable penetrance and founder effect. Neurology 1996; 47:963-968.
33. Wu FF, Ryan A, Devaney J, et al. Novel mutations with unique clinical and electrophysiological consequences. Brain 2002; 125:2392-2407.
34. Dutzler R, Campbell EB, Cadene M, et al. X-ray structure of a CIC chloride channel at 3.0A reveals the molecular basis of anion selectivity. Nature 2002; 415:287-294. This describes unequivocal evidence for the double-barrelled model of CIC channels and provides much needed data regarding the regional function of this group of channels.
35. Ryan A, Rudel R, Kuchenbecker M, et al. A novel alteration of muscle chloride gating in myotonia levior. J Physiol 2002; 545:345-354.
36. Pereon Y, Lande G, Memolombe S, et al. Paramyotonia congenita with an SCN4A mutation affecting cardiac repolarisation. Neurology 2003; 60:340-342.
37. Brancati F, Valente EM, Davies NP, et al. Severe infantile hyperkalaemic periodic paralysis and paramyotonia congenita: broadening the clinical spectrum associated with the T704M mutation in SCN4A. J Neurol Neurosurg Psych (in press).
38. McClatchey AI, McKenna-Yasek D, Cros D, et al. Novel mutations in families with unusual and variable disorders of the skeletal muscle sodium channel. Nat Genet 1992; 2:148-152.
39. Sampaolo S, Puca AA, Nigro V, et al. Lack of sodium channel mutation in an Italian family with paramyotonia congenita. Neurology 1999; 53:1549-1553.
40. Davies NP, Sutton I, Winer JB, et al. The sodium channel syndromes: expanding the phenotype associated with SCN4A mutations [abstract]. J Neurol Neurosurg Psychiatry 2002; 73:213.
41. George AL, Komisarof J, Kallen RG, et al. Primary structure of the adult human skeletal muscle voltage-dependent sodium channel. Ann Neurol 1992; 31:131-137.
42. Zimmer T, Bollensdorff C, Houfe V, et al. Mouse heart Na+ channels: primary structure and function of two isoforms and alternatively spliced variants. Am J Physiol Heart Circ Physiol 2002; 282:H1007-H1017.
43. Streib EW. Differential diagnosis of myotonic syndromes. Muscle Nerve 1987; 10:603-615.
44. Desaphy J-F, Pierno S, De Luca A, et al. Different ability of clenbuterol and salbutamol to block sodium channels predicts their therapeutic use in muscle excitability disorders. Mol Pharmacol 2003; 63:659-670.
45. Nicole S, Davoine C-S, Topaloglu H, et al. Perlecan, the major proteoglycan of basement membranes, is altered in patients with Schwartz-Jampel syndrome (chondrodystrophic myotonia). Nat Genet 2000; 26:480-483.
46. Arikawa-Hirasawa E, Wilcox WR, Le AH, et al. Dyssegmental dysplasia, Silverman-Handmaker type, is caused by functional null mutations of the perlecan gene. Nat Genet 2001; 27:431-434.
47. Arikawa-Hirasawa E, Rossi SG, Rotundo RL, et al. Absence of acetylcholinesterase at the neuromuscular junctions of perlecan null mice. Nat Neurosci 2002; 5:119-123.
48. Arikawa-Hirasawa E, Le AH, Nischino I, et al. Structural and functional mutations of the perlecan gene cause Schwartz-Jampel syndrome, with myotonic myopathy and chondrodysplasia. Am J Hum Genet 2002; 70:1368-1375.
49. Day JW, Ricker K, Jacobsen JF, et al. Myotonic dystrophy type 2: molecular, diagnostic and clinical spectrum. Neurology 2003; 60:657-664. This is a comprehensive study, clarifiying the frequency of certain clinical and genetic features in this disorder and explaining the possible pitfalls in DNA-based diagnosis.
50. Schneider-Gold C, Beck M, Wessig C, et al. Creatine monohydrate in DM2/ PROMM: a double blind placebo-controlled clinical study. Neurology 2003; 60:500-502.
51. Liquori CL, Ricker K, Moseley ML, et al. Myotonic dystrophy type 2 caused by a CCTG expansion in intron 1 of ZNF9. Science 2001; 293:864-867.
52. Charlet BN, Savkur RS, Singh G, et al. Loss of the muscle-specific chloride channel in type 1 myotonic dystrophy due to misregulated alternative splicing. Mol Cell 2002; 10:45-53.
53. Savkur RS, Philips AV, Cooper TA. Aberrant regulation of insulin receptor alternative splicing is associated with insulin resistance in myotonic dystrophy. Nat Genet 2001; 29:40-47.
54. Mankodi A, Urbinati CR, Yuan QP, et al. Muscleblind localises to nuclear foci of aberrant RNA in myotonic dystrophy types 1 and 2. Hum Mol Genet 2001; 10:2165-2170.
55. Ricker K. Myotonic dystrophy and proximal myotonic myopathy. J Neurol 1999; 246:334-338.