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Volumn 32, Issue 5, 2012, Pages 533-537

Acetazolamide-responsive ataxia

Author keywords

4 aminopyridine; acetazolamide; autosomal dominant; cerebellum; channelopathy; episodic ataxia

Indexed keywords

4 AMINOPYRIDINE; ACETAZOLAMIDE; CARBAMAZEPINE; ETIRACETAM; PLACEBO;

EID: 84878030163     PISSN: 02718235     EISSN: 10989021     Source Type: Journal    
DOI: 10.1055/s-0033-1334475     Document Type: Article
Times cited : (32)

References (38)
  • 2
    • 0018122266 scopus 로고
    • Hereditary paroxysmal ataxia: Response to acetazolamide
    • Griggs R. C., Moxley R. T. III, Lafrance R. A., McQuillen J. Hereditary paroxysmal ataxia: response to acetazolamide. Neurology: 1978; 28 12 1259 1264
    • (1978) Neurology , vol.28 , Issue.12 , pp. 1259-1264
    • Griggs, R.C.1    Moxley III, R.T.2    Lafrance, R.A.3    McQuillen, J.4
  • 3
    • 0028919918 scopus 로고
    • Episodic ataxias as channelopathies
    • Griggs R. C., Nutt J. G. Episodic ataxias as channelopathies. Ann Neurol: 1995; 37 3 285 287
    • (1995) Ann Neurol , vol.37 , Issue.3 , pp. 285-287
    • Griggs, R.C.1    Nutt, J.G.2
  • 4
    • 0020557401 scopus 로고
    • Acetazolamide-responsive episodic ataxia syndrome
    • Zasorin N. L., Baloh R. W., Myers L. B. Acetazolamide-responsive episodic ataxia syndrome. Neurology: 1983; 33 9 1212 1214
    • (1983) Neurology , vol.33 , Issue.9 , pp. 1212-1214
    • Zasorin, N.L.1    Baloh, R.W.2    Myers, L.B.3
  • 5
    • 0028136739 scopus 로고
    • A gene for episodic ataxia/myokymia maps to chromosome 12p13
    • Litt M., Kramer P., Browne D., et al. A gene for episodic ataxia/myokymia maps to chromosome 12p13. Am J Hum Genet: 1994; 55 4 702 709
    • (1994) Am J Hum Genet , vol.55 , Issue.4 , pp. 702-709
    • Litt, M.1    Kramer, P.2    Browne, D.3
  • 6
    • 0028124225 scopus 로고
    • Episodic ataxia/myokymia syndrome is associated with point mutations in the human potassium channel gene, KCNA1
    • Browne D. L., Gancher S. T., Nutt J. G., et al. Episodic ataxia/myokymia syndrome is associated with point mutations in the human potassium channel gene, KCNA1. Nat Genet: 1994; 8 2 136 140
    • (1994) Nat Genet , vol.8 , Issue.2 , pp. 136-140
    • Browne, D.L.1    Gancher, S.T.2    Nutt, J.G.3
  • 7
    • 0029048004 scopus 로고
    • A locus for the nystagmus-associated form of episodic ataxia maps to an 11-cM region on chromosome 19p
    • Kramer P. L., Yue Q., Gancher S. T., 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 1 182 185
    • (1995) Am J Hum Genet , vol.57 , Issue.1 , pp. 182-185
    • Kramer, P.L.1    Yue, Q.2    Gancher, S.T.3
  • 8
    • 0028920029 scopus 로고
    • Mapping the gene for acetazolamide responsive hereditary paryoxysmal cerebellar ataxia to chromosome 19p
    • von Brederlow B., Hahn A. F., Koopman W. J., Ebers G. C., Bulman D. E. Mapping the gene for acetazolamide responsive hereditary paryoxysmal cerebellar ataxia to chromosome 19p. Hum Mol Genet: 1995; 4 2 279 284
    • (1995) Hum Mol Genet , vol.4 , Issue.2 , pp. 279-284
    • Von Brederlow, B.1    Hahn, A.F.2    Koopman, W.J.3    Ebers, G.C.4    Bulman, D.E.5
  • 9
    • 16044370232 scopus 로고    scopus 로고
    • Familial hemiplegic migraine and episodic ataxia type-2 are caused by mutations in the Ca2+ channel gene CACNL1A4
    • Ophoff R. A., Terwindt G. M., Vergouwe M. N., et al. Familial hemiplegic migraine and episodic ataxia type-2 are caused by mutations in the Ca2+ channel gene CACNL1A4. Cell: 1996; 87 3 543 552
    • (1996) Cell , vol.87 , Issue.3 , pp. 543-552
    • Ophoff, R.A.1    Terwindt, G.M.2    Vergouwe, M.N.3
  • 10
    • 34848869371 scopus 로고    scopus 로고
    • Primary episodic ataxias: Diagnosis, pathogenesis and treatment
    • CINCH investigators
    • Jen J. C., Graves T. D., Hess E. J., Hanna M. G., Griggs R. C., Baloh R. W. CINCH investigators Primary episodic ataxias: diagnosis, pathogenesis and treatment. Brain: 2007; 130 Pt 10 2484 2493
    • (2007) Brain , vol.130 , Issue.PART 10 , pp. 2484-2493
    • Jen, J.C.1    Graves, T.D.2    Hess, E.J.3    Hanna, M.G.4    Griggs, R.C.5    Baloh, R.W.6
  • 11
    • 0029120561 scopus 로고
    • Identification of two new KCNA1 mutations in episodic ataxia/myokymia families
    • Browne D. L., Brunt E. R., Griggs R. C., et al. Identification of two new KCNA1 mutations in episodic ataxia/myokymia families. Hum Mol Genet: 1995; 4 9 1671 1672
    • (1995) Hum Mol Genet , vol.4 , Issue.9 , pp. 1671-1672
    • Browne, D.L.1    Brunt, E.R.2    Griggs, R.C.3
  • 13
    • 0032895470 scopus 로고    scopus 로고
    • A novel mutation in the human voltage-gated potassium channel gene (Kv1.1) associates with episodic ataxia type 1 and sometimes with partial epilepsy
    • Zuberi S. M., Eunson L. H., Spauschus A., et al. A novel mutation in the human voltage-gated potassium channel gene (Kv1.1) associates with episodic ataxia type 1 and sometimes with partial epilepsy. Brain: 1999; 122 Pt 5 817 825
    • (1999) Brain , vol.122 , Issue.PART 5 , pp. 817-825
    • Zuberi, S.M.1    Eunson, L.H.2    Spauschus, A.3
  • 14
    • 0033797135 scopus 로고    scopus 로고
    • Clinical, genetic, and expression studies of mutations in the potassium channel gene KCNA1 reveal new phenotypic variability
    • Eunson L. H., Rea R., Zuberi S. M., et al. Clinical, genetic, and expression studies of mutations in the potassium channel gene KCNA1 reveal new phenotypic variability. Ann Neurol: 2000; 48 4 647 656
    • (2000) Ann Neurol , vol.48 , Issue.4 , pp. 647-656
    • Eunson, L.H.1    Rea, R.2    Zuberi, S.M.3
  • 15
    • 4444286698 scopus 로고    scopus 로고
    • Expanding the phenotype of potassium channelopathy: Severe neuromyotonia and skeletal deformities without prominent episodic ataxia
    • Kinali M., Jungbluth H., Eunson L. H., et al. Expanding the phenotype of potassium channelopathy: severe neuromyotonia and skeletal deformities without prominent episodic ataxia. Neuromuscul Disord: 2004; 14 10 689 693
    • (2004) Neuromuscul Disord , vol.14 , Issue.10 , pp. 689-693
    • Kinali, M.1    Jungbluth, H.2    Eunson, L.H.3
  • 17
    • 0035811775 scopus 로고    scopus 로고
    • The clinical spectrum of familial hemiplegic migraine associated with mutations in a neuronal calcium channel
    • Ducros A., Denier C., Joutel A., et al. The clinical spectrum of familial hemiplegic migraine associated with mutations in a neuronal calcium channel. N Engl J Med: 2001; 345 1 17 24
    • (2001) N Engl J Med , vol.345 , Issue.1 , pp. 17-24
    • Ducros, A.1    Denier, C.2    Joutel, A.3
  • 18
    • 0031012399 scopus 로고    scopus 로고
    • Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the alpha 1A-voltage-dependent calcium channel
    • Zhuchenko O., Bailey J., Bonnen P., et al. Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the alpha 1A-voltage-dependent calcium channel. Nat Genet: 1997; 15 1 62 69
    • (1997) Nat Genet , vol.15 , Issue.1 , pp. 62-69
    • Zhuchenko, O.1    Bailey, J.2    Bonnen, P.3
  • 19
    • 0031015937 scopus 로고    scopus 로고
    • Familial episodic ataxia: Clinical heterogeneity in four families linked to chromosome 19p
    • Baloh R. W., Yue Q., Furman J. M., Nelson S. F. Familial episodic ataxia: clinical heterogeneity in four families linked to chromosome 19p. Ann Neurol: 1997; 41 1 8 16
    • (1997) Ann Neurol , vol.41 , Issue.1 , pp. 8-16
    • Baloh, R.W.1    Yue, Q.2    Furman, J.M.3    Nelson, S.F.4
  • 20
    • 13444249849 scopus 로고    scopus 로고
    • Two novel CACNA1A gene mutations associated with episodic ataxia type 2 and interictal dystonia
    • Spacey S. D., Materek L. A., Szczygielski B. I., Bird T. D. Two novel CACNA1A gene mutations associated with episodic ataxia type 2 and interictal dystonia. Arch Neurol: 2005; 62 2 314 316
    • (2005) Arch Neurol , vol.62 , Issue.2 , pp. 314-316
    • Spacey, S.D.1    Materek, L.A.2    Szczygielski, B.I.3    Bird, T.D.4
  • 21
    • 0023886345 scopus 로고
    • Magnetic resonance imaging in familial paroxysmal ataxia
    • Vighetto A., Froment J. C., Trillet M., Aimard G. Magnetic resonance imaging in familial paroxysmal ataxia. Arch Neurol: 1988; 45 5 547 549
    • (1988) Arch Neurol , vol.45 , Issue.5 , pp. 547-549
    • Vighetto, A.1    Froment, J.C.2    Trillet, M.3    Aimard, G.4
  • 22
    • 79961158491 scopus 로고    scopus 로고
    • Episodic ataxias 1 and 2
    • Baloh R. W. Episodic ataxias 1 and 2. Handb Clin Neurol: 2012; 103 595 602
    • (2012) Handb Clin Neurol , vol.103 , pp. 595-602
    • Baloh, R.W.1
  • 23
    • 0035940624 scopus 로고    scopus 로고
    • An autosomal dominant disorder with episodic ataxia, vertigo, and tinnitus
    • Steckley J. L., Ebers G. C., Cader M. Z., McLachlan R. S. An autosomal dominant disorder with episodic ataxia, vertigo, and tinnitus. Neurology: 2001; 57 8 1499 1502
    • (2001) Neurology , vol.57 , Issue.8 , pp. 1499-1502
    • Steckley, J.L.1    Ebers, G.C.2    Cader, M.Z.3    McLachlan, R.S.4
  • 24
    • 22044455177 scopus 로고    scopus 로고
    • A genome-wide screen and linkage mapping for a large pedigree with episodic ataxia
    • Cader M. Z., Steckley J. L., Dyment D. A., McLachlan R. S., Ebers G. C. A genome-wide screen and linkage mapping for a large pedigree with episodic ataxia. Neurology: 2005; 65 1 156 158
    • (2005) Neurology , vol.65 , Issue.1 , pp. 156-158
    • Cader, M.Z.1    Steckley, J.L.2    Dyment, D.A.3    McLachlan, R.S.4    Ebers, G.C.5
  • 25
    • 0033910736 scopus 로고    scopus 로고
    • Coding and noncoding variation of the human calcium-channel beta4-subunit gene CACNB4 in patients with idiopathic generalized epilepsy and episodic ataxia
    • Escayg A., De Waard M., Lee D. D., et al. Coding and noncoding variation of the human calcium-channel beta4-subunit gene CACNB4 in patients with idiopathic generalized epilepsy and episodic ataxia. Am J Hum Genet: 2000; 66 5 1531 1539
    • (2000) Am J Hum Genet , vol.66 , Issue.5 , pp. 1531-1539
    • Escayg, A.1    De Waard, M.2    Lee, D.D.3
  • 26
    • 0029922495 scopus 로고    scopus 로고
    • Periodic vestibulocerebellar ataxia, an autosomal dominant ataxia with defective smooth pursuit, is genetically distinct from other autosomal dominant ataxias
    • Damji K. F., Allingham R. R., Pollock S. C., et al. Periodic vestibulocerebellar ataxia, an autosomal dominant ataxia with defective smooth pursuit, is genetically distinct from other autosomal dominant ataxias. Arch Neurol: 1996; 53 4 338 344
    • (1996) Arch Neurol , vol.53 , Issue.4 , pp. 338-344
    • Damji, K.F.1    Allingham, R.R.2    Pollock, S.C.3
  • 27
    • 23844500344 scopus 로고    scopus 로고
    • Mutation in the glutamate transporter EAAT1 causes episodic ataxia, hemiplegia, and seizures
    • Jen J. C., Wan J., Palos T. P., Howard B. D., Baloh R. W. Mutation in the glutamate transporter EAAT1 causes episodic ataxia, hemiplegia, and seizures. Neurology: 2005; 65 4 529 534
    • (2005) Neurology , vol.65 , Issue.4 , pp. 529-534
    • Jen, J.C.1    Wan, J.2    Palos, T.P.3    Howard, B.D.4    Baloh, R.W.5
  • 28
    • 0031726082 scopus 로고    scopus 로고
    • Spinocerebellar ataxia type 6 with positional vertigo and acetazolamide responsive episodic ataxia
    • Jen J. C., Yue Q., Karrim J., Nelson S. F., Baloh R. W. Spinocerebellar ataxia type 6 with positional vertigo and acetazolamide responsive episodic ataxia. J Neurol Neurosurg Psychiatry: 1998; 65 4 565 568
    • (1998) J Neurol Neurosurg Psychiatry , vol.65 , Issue.4 , pp. 565-568
    • Jen, J.C.1    Yue, Q.2    Karrim, J.3    Nelson, S.F.4    Baloh, R.W.5
  • 29
    • 33745628333 scopus 로고    scopus 로고
    • Migrainous vertigo: Mutation analysis of the candidate genes CACNA1A, ATP1A2, SCN1A, and CACNB4
    • von Brevern M., Ta N., Shankar A., et al. Migrainous vertigo: mutation analysis of the candidate genes CACNA1A, ATP1A2, SCN1A, and CACNB4. Headache: 2006; 46 7 1136 1141
    • (2006) Headache , vol.46 , Issue.7 , pp. 1136-1141
    • Von Brevern, M.1    Ta, N.2    Shankar, A.3
  • 30
    • 0035942343 scopus 로고    scopus 로고
    • Involvement of the CACNA1A gene containing region on 19p13 in migraine with and without aura
    • Dutch Migraine Genetics Research Group
    • Terwindt G. M., Ophoff R. A., van Eijk R., et al. Dutch Migraine Genetics Research Group Involvement of the CACNA1A gene containing region on 19p13 in migraine with and without aura. Neurology: 2001; 56 8 1028 1032
    • (2001) Neurology , vol.56 , Issue.8 , pp. 1028-1032
    • Terwindt, G.M.1    Ophoff, R.A.2    Van Eijk, R.3
  • 32
    • 0026597221 scopus 로고
    • Familial periodic cerebellar ataxia: A problem of cerebellar intracellular pH homeostasis
    • Bain P. G., O'Brien M. D., Keevil S. F., Porter D. A. Familial periodic cerebellar ataxia: a problem of cerebellar intracellular pH homeostasis. Ann Neurol: 1992; 31 2 147 154
    • (1992) Ann Neurol , vol.31 , Issue.2 , pp. 147-154
    • Bain, P.G.1    O'Brien, M.D.2    Keevil, S.F.3    Porter, D.A.4
  • 33
    • 0032870674 scopus 로고    scopus 로고
    • Phosphorus and proton magnetic resonance spectroscopy in episodic ataxia type 2
    • Sappey-Marinier D., Vighetto A., Peyron R., Broussolle E., Bonmartin A. Phosphorus and proton magnetic resonance spectroscopy in episodic ataxia type 2. Ann Neurol: 1999; 46 2 256 259
    • (1999) Ann Neurol , vol.46 , Issue.2 , pp. 256-259
    • Sappey-Marinier, D.1    Vighetto, A.2    Peyron, R.3    Broussolle, E.4    Bonmartin, A.5
  • 35
    • 3843077388 scopus 로고    scopus 로고
    • Functional implications of a novel EA2 mutation in the P/Q-type calcium channel
    • Spacey S. D., Hildebrand M. E., Materek L. A., Bird T. D., Snutch T. P. Functional implications of a novel EA2 mutation in the P/Q-type calcium channel. Ann Neurol: 2004; 56 2 213 220
    • (2004) Ann Neurol , vol.56 , Issue.2 , pp. 213-220
    • Spacey, S.D.1    Hildebrand, M.E.2    Materek, L.A.3    Bird, T.D.4    Snutch, T.P.5
  • 36
    • 0347722572 scopus 로고    scopus 로고
    • Clinical spectrum of episodic ataxia type 2
    • Jen J., Kim G. W., Baloh R. W. Clinical spectrum of episodic ataxia type 2. Neurology: 2004; 62 1 17 22
    • (2004) Neurology , vol.62 , Issue.1 , pp. 17-22
    • Jen, J.1    Kim, G.W.2    Baloh, R.W.3
  • 37
    • 79960550901 scopus 로고    scopus 로고
    • A randomized trial of 4-aminopyridine in EA2 and related familial episodic ataxias
    • Strupp M., Kalla R., Claassen J., et al. A randomized trial of 4-aminopyridine in EA2 and related familial episodic ataxias. Neurology: 2011; 77 3 269 275
    • (2011) Neurology , vol.77 , Issue.3 , pp. 269-275
    • Strupp, M.1    Kalla, R.2    Claassen, J.3
  • 38
    • 82955228794 scopus 로고    scopus 로고
    • A randomized trial of 4-aminopyridine in EA2 and related familial episodic ataxias
    • author reply 1997
    • Hess E. A randomized trial of 4-aminopyridine in EA2 and related familial episodic ataxias. Neurology: 2011; 77 22 1996 1997, author reply 1997
    • (2011) Neurology , vol.77 , Issue.22 , pp. 1996-1997
    • Hess, E.1


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