Transient compartment-like syndrome and normokalaemic periodic paralysis due to a Cav1.1 mutation

Brain

Volumn 136, Issue 12, 2013, Pages 3775-3786

  Fan, Chunxiang ^a   Lehmann Horn, Frank ^a,b   Weber, Marc André ^c,d   Bednarz, Marcin ^a   Groome, James R ^e   Jonsson, Malin K B ^f   Jurkat Rott, Karin ^a,b  

^a UNIVERSITY OF ULM   (Germany)

^b Rare Disease Center (ZSE) Neuromuscular Disease Center (NMZ)   (Germany)

^c UNIVERSITY HOSPITAL HEIDELBERG   (Germany)

^d GERMAN CANCER RESEARCH CENTER DKFZ   (Germany)

^e IDAHO STATE UNIVERSITY   (United States)

^f UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

Author keywords

Calcium channel; Omega pore; Periodic paralyses; Voltage sensor

Indexed keywords

ACETAZOLAMIDE; ASPARTATE AMINOTRANSFERASE; CALCIUM CHANNEL CAV 1.1; CREATINE KINASE; DICLOFENAMIDE; DYSTROPHIN; EPLERENONE; POTASSIUM; POTASSIUM CHLORIDE; SARCOGLYCAN; UNCLASSIFIED DRUG; VOLTAGE GATED CALCIUM CHANNEL;

AGED; ANIMAL CELL; ARTICLE; ASPARTATE AMINOTRANSFERASE BLOOD LEVEL; CALCIUM CURRENT; CALCIUM TRANSPORT; CASE REPORT; CAUSE OF DEATH; CLINICAL FEATURE; COGNITIVE DEFECT; COMPARTMENT SYNDROME; CONFUSION; CONTROLLED STUDY; CREATINE KINASE BLOOD LEVEL; DEPRESSION; DROWSINESS; DRUG WITHDRAWAL; DYSTHYMIA; ELECTROMYOGRAM; ELECTRONEUROLOGY; EXERCISE INDUCED CONTRACTURE; FAMILIAL DISEASE; FEMALE; GENE MUTATION; HUMAN; IRRITABILITY; LATENT PERIOD; MALE; MEMBRANE POTENTIAL; MOUSE; MUSCLE ACTION POTENTIAL; MUSCLE BIOPSY; MUSCLE CONTRACTURE; MUSCLE WEAKNESS; MYOPATHY; NEUROPHYSIOLOGY; NONHUMAN; NORMOKALEMIC PERIODIC PARALYSIS; PATHOGENESIS; PERIODIC PARALYSIS; POTASSIUM BLOOD LEVEL; POTASSIUM TRANSPORT; PRIORITY JOURNAL; PROTEIN EXPRESSION; PROTON NUCLEAR MAGNETIC RESONANCE; SIDE EFFECT;

EID: 84890604639     PISSN: 00068950     EISSN: 14602156     Source Type: Journal    
DOI: 10.1093/brain/awt300     Document Type: Article

References (31)

1. Amarteifio E, Nagel AM, Weber MA, Jurkat-Rott K, Lehmann-Horn F. Hyperkalemic periodic paralysis and permanent weakness: 3-T MR imaging depicts intracellular 23Na overload-initial results. Radiology 2012; 264: 154-63.
2. Cannon SC. Voltage-sensor mutations in channelopathies of skeletal muscle. J Physiol 2010; 588: 1887-95.
3. Catterall WA. Ion channel voltage sensors: structure, function, and pathophysiology. Neuron 2010; 67: 915-28.
4. Chinnery PF, Walls TJ, Hanna MG, Bates D, Fawcett PR. Normokalemic periodic paralysis revisited: does it exist? Ann Neurol 2002; 52: 251-2.
5. Fontaine B. Periodic paralysis. Adv Genet 2008; 63: 3-23.
6. Francis DG, Rybalchenko V, Struyk A, Cannon SC. Leaky sodium channels from voltage sensor mutations in periodic paralysis, but not paramyotonia. Neurology 2011; 76: 1635-41.
7. Gong B, Legault D, Miki T, Seino S, Renaud JM. KATP channels depress force by reducing action potential amplitude in mouse EDL and soleus muscle. Am J Physiol Cell Physiol 2003; 285: C1464-74.
8. Grabner M, Dirksen RT, Beam KG. Tagging with green fluorescent protein reveals a distinct subcellular distribution of L-type and non-L-type Ca2 + channels expressed in dysgenic myotubes. Proc Natl Acad Sci USA 1998; 95: 1903-8.
9. Hagiwara S, Takahashi K. The anomalous rectification and cation selectivity of the membrane of a starfish egg cell. J Membr Biol 1974; 18: 61-80.
10. Jurkat-Rott K, Groome J, Lehmann-Horn F. Pathophysiological role of omega pore current in channelopathies. Front Pharmacol 2012; 3: 112.
11. Jurkat-Rott K, Lehmann-Horn F, Elbaz A, Heine R, Gregg RG, Hogan K, et al. A calcium channel mutation causing hypokalemic periodic paralysis. Hum Mol Genet 1994; 3: 1415-9.
12. Jurkat-Rott K, Uetz U, Pika-Hartlaub U, Powell J, Fontaine B, Melzer W, et al. Calcium currents and transients of native and heterologously expressed mutant skeletal muscle DHP receptor alpha1 subunits (R528H). FEBS Lett 1998; 423: 198-204.
13. Jurkat-Rott K, Weber MA, Fauler M, Guo XH, Holzherr BD, Paczulla A, et al. K +-dependent paradoxical membrane depolarization and Na + overload, major and reversible contributors to weakness by ion channel leaks. Proc Natl Acad Sci USA 2009; 106: 4036-41.
14. Kwiecinski H, Lehmann-Horn F, Rüdel R. The resting membrane parameters of human intercostal muscle at low, normal, and high extracellular potassium. Muscle Nerve 1984; 7: 60-5.
15. Lehmann-Horn F, Weber MA, Nagel AM, Meinck HM, Breitenbach S, Scharrer J, et al. Rationale for treating oedema in Duchenne muscular dystrophy with eplerenone. Acta Myol 2012; 31: 31-9.
16. Matthews E, Labrum R, Sweeney MG, Sud R, Haworth A, Chinnery PF, et al. Voltage sensor charge loss accounts for most cases of hypokalemic periodic paralysis. Neurology 2009; 72: 1544-7.
17. Matthews E, Portaro S, Ke Q, Sud R, Haworth A, Davis MB, et al. Acetazolamide efficacy in hypokalemic periodic paralysis and the predictive role of genotype. Neurology 2011; 77: 1960-4.
18. Ricker K, Rüdel R, Lehmann-Horn F, Küther G. Muscle stiffness and electrical activity in paramyotonia congenita. Muscle Nerve 1986; 9: 299-305.
19. Ruff RL. Insulin acts in hypokalemic periodic paralysis by reducing inward rectifier K + current. Neurology 1999; 53: 1556-63.
20. Sokolov S, Scheuer T, Catterall WA. Gating pore current in an inherited ion channelopathy. Nature 2007; 446: 76-8.
21. Sokolov S, Scheuer T, Catterall WA. Depolarization-activated gating pore current conducted by mutant sodium channels in potassium-sensitive normokalemic periodic paralysis. Proc Natl Acad Sci USA 2008; 105: 19980-5.
22. Sokolov S, Scheuer T, Catterall WA. Ion permeation and block of the gating pore in the voltage sensor of NaV1.4 channels with hypokalemic periodic paralysis mutations. J Gen Physiol 2010; 136: 225-36.
23. Song YW, Kim SJ, Heo TH, Kim MH, Kim JB. Normokalemic periodic paralysis is not a distinct disease. Muscle Nerve 2012; 46: 914-6.
24. Struyk AF, Cannon SC. A Na + channel mutation linked to hypokalemic periodic paralysis exposes a proton-selective gating pore. J Gen Physiol 2007; 130: 11-20.
25. Struyk AF, Markin VS, Francis D, Cannon SC. Gating pore currents in DIIS4 mutations of NaV1.4 associated with periodic paralysis: saturation of ion flux and implications for disease pathogenesis. J Gen Physiol 2008; 132: 447-64.
26. Tengan CH, Antunes AC, Gabbai AA, Manzano GM. The exercise test as a monitor of disease status in hypokalaemic periodic paralysis. J Neurol Neurosurg Psychiatry 2004; 75: 497-9.
27. Tricarico D, Camerino DC. Recent advances in the pathogenesis and drug action in periodic paralyses and related channelopathies. Front Pharmacol 2011; 2: 8.
28. Vicart S, Sternberg D, Fournier E, Ochsner F, Laforet P, Kuntzer T, et al. New mutations of SCN4A cause a potassium-sensitive normokalemic periodic paralysis. Neurology 2004; 63: 2120-7.
29. Weber MA, Nielles-Vallespin S, Essig M, Jurkat-Rott K, Kauczor HU, Lehmann-Horn F. Muscle Na + channelopathies: MRI detects intracellular 23Na accumulation during episodic weakness. Neurology 2006; 67: 1151-8.
30. Wu F, Mi W, Burns DK, Fu Y, Gray HF, Struyk AF, et al. A sodium channel knockin mutant (NaV1.4-R669H) mouse model of hypokalemic periodic paralysis. J Clin Invest 2011; 121: 4082-94.
31. Wu F, Mi W, Hernandez-Ochoa EO, Burns DK, Fu Y, Gray HF, et al. A calcium channel mutant mouse model of hypokalemic periodic paralysis. J Clin Invest 2012; 122: 4580-91.