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Volumn 21, Issue 1, 2008, Pages 3-7

Recent advances in the genetics of recurrent vertigo and vestibulopathy

Author keywords

Genetics of benign recurrent vertigo; Migraine; Vestibulopathy

Indexed keywords

ATAXIA; AUTOSOMAL DISORDER; CLINICAL FEATURE; DISEASE ASSOCIATION; EPISODIC ATAXIA TYPE 1; EPISODIC ATAXIA TYPE 2; ESSENTIAL TREMOR; FAMILY; GENE LOCUS; GENE MUTATION; GENETICS; HEARING; HUMAN; MENIERE DISEASE; MIGRAINE; MYOKYMIA; NYSTAGMUS; REVIEW; VERTIGO; VESTIBULAR DISORDER;

EID: 37849038231     PISSN: 13507540     EISSN: None     Source Type: Journal    
DOI: 10.1097/WCO.0b013e3282f41ca0     Document Type: Review
Times cited : (24)

References (52)
  • 1
    • 0028124225 scopus 로고
    • Episodic ataxia/myokymia syndrome is associated with point mutations in the human potassium channel gene, KCNA1
    • Browne DL, Gancher ST, Nutt JG, et al. Episodic ataxia/myokymia syndrome is associated with point mutations in the human potassium channel gene, KCNA1. Nat Genet 1994; 8:136-140.
    • (1994) Nat Genet , vol.8 , pp. 136-140
    • Browne, D.L.1    Gancher, S.T.2    Nutt, J.G.3
  • 2
    • 0023225798 scopus 로고
    • Cloning of genomic and complementary DNA from Shaker, a putative potassium channel gene from Drosophila
    • Papazian DM, Schwarz TL, Tempel BL, et al. Cloning of genomic and complementary DNA from Shaker, a putative potassium channel gene from Drosophila. Science 1987; 237:749-753.
    • (1987) Science , vol.237 , pp. 749-753
    • Papazian, D.M.1    Schwarz, T.L.2    Tempel, B.L.3
  • 3
    • 0027424441 scopus 로고
    • + channels in terminal and juxtaparanodal regions of neurons
    • + channels in terminal and juxtaparanodal regions of neurons. Nature 1993; 365:75-79.
    • (1993) Nature , vol.365 , pp. 75-79
    • Wang, H.1    Kunkel, D.D.2    Martin, T.M.3
  • 4
    • 0029560754 scopus 로고
    • Episodic ataxia results from voltage-dependent potassium channels with altered functions
    • Adelman JP, Bond CT, Pessia M, Maylie J. Episodic ataxia results from voltage-dependent potassium channels with altered functions. Neuron 1995; 15:1449-1454.
    • (1995) Neuron , vol.15 , pp. 1449-1454
    • Adelman, J.P.1    Bond, C.T.2    Pessia, M.3    Maylie, J.4
  • 5
    • 0036400556 scopus 로고    scopus 로고
    • + channel subunit dysfunction in inherited mutations of KCNA1
    • + channel subunit dysfunction in inherited mutations of KCNA1. J Physiol 2002; 538:5-23.
    • (2002) J Physiol , vol.538 , pp. 5-23
    • Rea, R.1    Spauschus, A.2    Eunson, L.H.3
  • 7
    • 0023716266 scopus 로고
    • Familial periodic ataxia responsive to flunarizine
    • Boel M, Casaer P. Familial periodic ataxia responsive to flunarizine. Neuropediatrics 1988; 19:218-220.
    • (1988) Neuropediatrics , vol.19 , pp. 218-220
    • Boel, M.1    Casaer, P.2
  • 8
    • 2342663131 scopus 로고    scopus 로고
    • Treatment of episodic ataxia type 2 with the potassium channel blocker 4-aminopyridine
    • Strupp M, Kalla R, Dichgans M, et al. Treatment of episodic ataxia type 2 with the potassium channel blocker 4-aminopyridine. Neurology 2004; 62:1623-1625.
    • (2004) Neurology , vol.62 , pp. 1623-1625
    • Strupp, M.1    Kalla, R.2    Dichgans, M.3
  • 9
    • 0028841501 scopus 로고
    • Is familial hemiplegic migraine a hereditary form of basilar migraine?
    • Haan J, Terwindt GM, Ophoff RA, et al. Is familial hemiplegic migraine a hereditary form of basilar migraine? Cephalalgia 1995; 15:477-481.
    • (1995) Cephalalgia , vol.15 , pp. 477-481
    • Haan, J.1    Terwindt, G.M.2    Ophoff, R.A.3
  • 10
    • 0031015937 scopus 로고    scopus 로고
    • Familial episodic ataxia: Clinical heterogeneity in four families linked to chromosome 19p
    • Baloh RW, Yue Q, Furman JM, Nelson SF. Familial episodic ataxia: clinical heterogeneity in four families linked to chromosome 19p. Ann Neurol 1997; 41:8-16.
    • (1997) Ann Neurol , vol.41 , pp. 8-16
    • Baloh, R.W.1    Yue, Q.2    Furman, J.M.3    Nelson, S.F.4
  • 12
    • 0025775195 scopus 로고
    • Primary structure and functional expression from complementary DNA of a brain calcium channel
    • Mori Y, Friedrich T, Kim MS, et al. Primary structure and functional expression from complementary DNA of a brain calcium channel. Nature 1991; 350: 398-402.
    • (1991) Nature , vol.350 , pp. 398-402
    • Mori, Y.1    Friedrich, T.2    Kim, M.S.3
  • 14
    • 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; 345:17-24.
    • (2001) N Engl J Med , vol.345 , pp. 17-24
    • Ducros, A.1    Denier, C.2    Joutel, A.3
  • 15
    • 0032975258 scopus 로고    scopus 로고
    • High prevalence of CACNA1A truncations and broader clinical spectrum in episodic ataxia type 2
    • Denier C, Ducros A, Vahedi K, et al. High prevalence of CACNA1A truncations and broader clinical spectrum in episodic ataxia type 2. Neurology 1999; 52:1816-1821.
    • (1999) Neurology , vol.52 , pp. 1816-1821
    • Denier, C.1    Ducros, A.2    Vahedi, K.3
  • 16
    • 0347722572 scopus 로고    scopus 로고
    • Clinical spectrum of episodic ataxia type 2
    • Jen JC, Kim GW, Baloh RW. Clinical spectrum of episodic ataxia type 2. Neurology 2004; 62:17-22.
    • (2004) Neurology , vol.62 , pp. 17-22
    • Jen, J.C.1    Kim, G.W.2    Baloh, R.W.3
  • 17
    • 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; 15:62-69.
    • (1997) Nat Genet , vol.15 , pp. 62-69
    • Zhuchenko, O.1    Bailey, J.2    Bonnen, P.3
  • 18
    • 0035940624 scopus 로고    scopus 로고
    • An autosomal dominant disorder with episodic ataxia, vertigo, and tinnitus
    • Steckley JL, Ebers GC, Cader MZ, McLachlan RS. An autosomal dominant disorder with episodic ataxia, vertigo, and tinnitus. Neurology 2001; 57: 1499-1502.
    • (2001) Neurology , vol.57 , pp. 1499-1502
    • Steckley, J.L.1    Ebers, G.C.2    Cader, M.Z.3    McLachlan, R.S.4
  • 19
    • 22044455177 scopus 로고    scopus 로고
    • A genome-wide screen and linkage mapping for a large pedigree with episodic ataxia
    • Cader MZ, Steckley JL, Dyment DA, et al. A genome-wide screen and linkage mapping for a large pedigree with episodic ataxia. Neurology 2005; 65:156-158.
    • (2005) Neurology , vol.65 , pp. 156-158
    • Cader, M.Z.1    Steckley, J.L.2    Dyment, D.A.3
  • 20
    • 0001354047 scopus 로고
    • Vestibulocerebellar ataxia. A newly defined hereditary syndrome with periodic manifestations
    • Farmer TW, Mustian VM. Vestibulocerebellar ataxia. A newly defined hereditary syndrome with periodic manifestations. Arch Neurol 1963; 8:471-480.
    • (1963) Arch Neurol , vol.8 , pp. 471-480
    • Farmer, T.W.1    Mustian, V.M.2
  • 21
    • 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 KF, Allingham RR, Pollock SC, et al. Periodic vestibulocerebellar ataxia, an autosomal dominant ataxia with defective smooth pursuit, is genetically distinct from other autosomal dominant ataxias. Arch Neurol 1996; 53:338-344.
    • (1996) Arch Neurol , vol.53 , pp. 338-344
    • Damji, K.F.1    Allingham, R.R.2    Pollock, S.C.3
  • 22
    • 0034069651 scopus 로고    scopus 로고
    • Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+2
    • Escayg A, MacDonald BT, Meisler MH, et al. Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+2. Nat Genet 2000; 24:343-345.
    • (2000) Nat Genet , vol.24 , pp. 343-345
    • Escayg, A.1    MacDonald, B.T.2    Meisler, M.H.3
  • 23
    • 23844500344 scopus 로고    scopus 로고
    • Mutation in the glutamate transporter EAAT1 causes episodic ataxia, hemiplegia, and seizures
    • Jen JC, Wan J, Palos TP, et al. Mutation in the glutamate transporter EAAT1 causes episodic ataxia, hemiplegia, and seizures. Neurology 2005; 65:529-534.
    • (2005) Neurology , vol.65 , pp. 529-534
    • Jen, J.C.1    Wan, J.2    Palos, T.P.3
  • 24
    • 34248995041 scopus 로고    scopus 로고
    • A new episodic ataxia syndrome with linkage to chromosome 19q13
    • Kerber KA, Jen JC, Lee H, et al. A new episodic ataxia syndrome with linkage to chromosome 19q13. Arch Neurol 2007; 64:749-752.
    • (2007) Arch Neurol , vol.64 , pp. 749-752
    • Kerber, K.A.1    Jen, J.C.2    Lee, H.3
  • 25
    • 13544275581 scopus 로고    scopus 로고
    • Acute migrainous vertigo: Clinical and oculographic findings
    • Von Brevern M, Zeise D, Neuhauser H, et al. Acute migrainous vertigo: clinical and oculographic findings. Brain 2005; 128:365-374.
    • (2005) Brain , vol.128 , pp. 365-374
    • Von Brevern, M.1    Zeise, D.2    Neuhauser, H.3
  • 26
    • 25444463930 scopus 로고    scopus 로고
    • Epidemiology of vestibular vertigo: A neurotologic survey of the general population
    • Neuhauser HK, von Brevern M, Radtke A, et al. Epidemiology of vestibular vertigo: a neurotologic survey of the general population. Neurology 2005; 65:898-904.
    • (2005) Neurology , vol.65 , pp. 898-904
    • Neuhauser, H.K.1    von Brevern, M.2    Radtke, A.3
  • 27
    • 33749015719 scopus 로고    scopus 로고
    • Neuhauser HK, Radtke A, Von Brevern M, et al. Migrainous vertigo: prevalence and impact on quality of life. Neurology 2006; 67:1028-1033. A large epidemiological study (with more than 4800 subjects) that showed that migrainous vertigo was underdiagnosed with notable impact on quality of life.
    • Neuhauser HK, Radtke A, Von Brevern M, et al. Migrainous vertigo: prevalence and impact on quality of life. Neurology 2006; 67:1028-1033. A large epidemiological study (with more than 4800 subjects) that showed that migrainous vertigo was underdiagnosed with notable impact on quality of life.
  • 28
    • 2942525883 scopus 로고    scopus 로고
    • No mutations in CACNA1A and ATP1A2 in probands with common types of migraine
    • Jen JC, Kim GW, Dudding KA, Baloh RW. No mutations in CACNA1A and ATP1A2 in probands with common types of migraine. Arch Neurol 2004; 61:926-928.
    • (2004) Arch Neurol , vol.61 , pp. 926-928
    • Jen, J.C.1    Kim, G.W.2    Dudding, K.A.3    Baloh, R.W.4
  • 29
    • 33745628333 scopus 로고    scopus 로고
    • Migrainous vertigo: Mutation analysis of the candidate genes CACNA1A, ATP1A2, SCN1A, and CACNB4
    • To date, the most thorough candidate gene screening in patients with migrainous vertigo for nucleotide variations in genes associated with familial hemiplegic migraine
    • Von Brevern M, Ta N, Shankar A, et al. Migrainous vertigo: mutation analysis of the candidate genes CACNA1A, ATP1A2, SCN1A, and CACNB4. Headache 2006; 46:1136-1141. To date, the most thorough candidate gene screening in patients with migrainous vertigo for nucleotide variations in genes associated with familial hemiplegic migraine.
    • (2006) Headache , vol.46 , pp. 1136-1141
    • Von Brevern, M.1    Ta, N.2    Shankar, A.3
  • 30
    • 31144435953 scopus 로고    scopus 로고
    • Lee H, Jen JC, Wang H, et al. A genome-wide linkage scan of familial benign recurrent vertigo: linkage to 22q12 with evidence of heterogeneity. Hum Mol Genet 2006; 15:251-258. The first effort in identifying susceptibility loci by genome scan in subjects with familial BRV, demonstrating marked genetic heterogeneity.
    • Lee H, Jen JC, Wang H, et al. A genome-wide linkage scan of familial benign recurrent vertigo: linkage to 22q12 with evidence of heterogeneity. Hum Mol Genet 2006; 15:251-258. The first effort in identifying susceptibility loci by genome scan in subjects with familial BRV, demonstrating marked genetic heterogeneity.
  • 31
    • 34447307121 scopus 로고    scopus 로고
    • Association of progesterone receptor with migraine-associated vertigo
    • Lee H, Sininger L, Jen JC, et al. Association of progesterone receptor with migraine-associated vertigo. Neurogenetics 2007; 8:195-200.
    • (2007) Neurogenetics , vol.8 , pp. 195-200
    • Lee, H.1    Sininger, L.2    Jen, J.C.3
  • 32
    • 0028013752 scopus 로고
    • Familial vestibulopathy: A new dominantly inherited syndrome
    • Baloh RW, Jacobson K, Fife T. Familial vestibulopathy: a new dominantly inherited syndrome. Neurology 1994; 44:20-25.
    • (1994) Neurology , vol.44 , pp. 20-25
    • Baloh, R.W.1    Jacobson, K.2    Fife, T.3
  • 33
    • 0042928502 scopus 로고    scopus 로고
    • Familial early-onset progressive vestibulopathy without hearing impairment
    • Brantberg K. Familial early-onset progressive vestibulopathy without hearing impairment. Acta Otolaryngol 2003; 123:713-717.
    • (2003) Acta Otolaryngol , vol.123 , pp. 713-717
    • Brantberg, K.1
  • 34
    • 19944368734 scopus 로고    scopus 로고
    • Suggestive linkage to chromosome 6q in families with bilateral vestibulopathy
    • Jen JC, Wang H, Lee H, et al. Suggestive linkage to chromosome 6q in families with bilateral vestibulopathy. Neurology 2004; 63:2376-2379.
    • (2004) Neurology , vol.63 , pp. 2376-2379
    • Jen, J.C.1    Wang, H.2    Lee, H.3
  • 36
    • 0030011968 scopus 로고    scopus 로고
    • Familial migraine with vertigo and essential tremor
    • Baloh RW, Foster CA, Yue Q, Nelson SF. Familial migraine with vertigo and essential tremor. Neurology 1996; 46:458-460.
    • (1996) Neurology , vol.46 , pp. 458-460
    • Baloh, R.W.1    Foster, C.A.2    Yue, Q.3    Nelson, S.F.4
  • 37
    • 17344363707 scopus 로고    scopus 로고
    • Mutations in a novel cochlear gene cause DFNA9, a human nonsyndromic deafness with vestibular dysfunction
    • Robertson NG, Lu L, Heller S, et al. Mutations in a novel cochlear gene cause DFNA9, a human nonsyndromic deafness with vestibular dysfunction. Nat Genet 1998; 20:299-303.
    • (1998) Nat Genet , vol.20 , pp. 299-303
    • Robertson, N.G.1    Lu, L.2    Heller, S.3
  • 38
    • 0036162703 scopus 로고    scopus 로고
    • Phenotype of DFNA11: A nonsyndromic hearing loss caused by a myosin VIIA mutation
    • Tamagawa Y, Ishikawa K, Ishikawa K, et al. Phenotype of DFNA11: a nonsyndromic hearing loss caused by a myosin VIIA mutation. Laryngoscope 2002; 112:292-297.
    • (2002) Laryngoscope , vol.112 , pp. 292-297
    • Tamagawa, Y.1    Ishikawa, K.2    Ishikawa, K.3
  • 39
    • 0032837049 scopus 로고    scopus 로고
    • High prevalence of symptoms of Meniere's disease in three families with a mutation in the COCH gene
    • Fransen E, Verstreken M, Verhagen WI, et al. High prevalence of symptoms of Meniere's disease in three families with a mutation in the COCH gene. Hum Mol Genet 1999; 8:1425-1429.
    • (1999) Hum Mol Genet , vol.8 , pp. 1425-1429
    • Fransen, E.1    Verstreken, M.2    Verhagen, W.I.3
  • 42
    • 24544463054 scopus 로고    scopus 로고
    • Migraine and Ménière's disease
    • Harris J, editor, The Hague: Kugler;
    • Baloh R, Andrews J. Migraine and Ménière's disease. In: Harris J, editor. Ménière's disease. The Hague: Kugler; 1999. pp. 281-289.
    • (1999) Ménière's disease , pp. 281-289
    • Baloh, R.1    Andrews, J.2
  • 43
    • 0037058773 scopus 로고    scopus 로고
    • Migraine and Meniere's disease: Is there a link?
    • Radtke A, Lempert T, Gresty MA, et al. Migraine and Meniere's disease: is there a link? Neurology 2002; 59:1700-1704.
    • (2002) Neurology , vol.59 , pp. 1700-1704
    • Radtke, A.1    Lempert, T.2    Gresty, M.A.3
  • 44
    • 36448929144 scopus 로고    scopus 로고
    • The relevance of migraine in patients with Meniere's disease
    • 8 May [Epub ahead of print
    • Cha YH, Brodsky J, Ishiyama G, et al. The relevance of migraine in patients with Meniere's disease. Acta Otolaryngol 2007; 8 May [Epub ahead of print].
    • (2007) Acta Otolaryngol
    • Cha, Y.H.1    Brodsky, J.2    Ishiyama, G.3
  • 45
    • 0000238203 scopus 로고
    • Ménière's syndrome
    • Brown M. Ménière's syndrome. Arch Neurol Psychiatry 1941; 46:561-565.
    • (1941) Arch Neurol Psychiatry , vol.46 , pp. 561-565
    • Brown, M.1
  • 46
    • 0013838435 scopus 로고
    • Occurrence of episodic vertigo and hearing loss in families
    • Bernstein JM. Occurrence of episodic vertigo and hearing loss in families. Ann Otol Rhinol Laryngol 1965; 74:1011-1021.
    • (1965) Ann Otol Rhinol Laryngol , vol.74 , pp. 1011-1021
    • Bernstein, J.M.1
  • 47
    • 0023371561 scopus 로고
    • Familial Meniere's disease: A genetic investigation
    • Birgerson L, Gustavson KH, Stahle J. Familial Meniere's disease: a genetic investigation. Am J Otol 1987; 8:323-326.
    • (1987) Am J Otol , vol.8 , pp. 323-326
    • Birgerson, L.1    Gustavson, K.H.2    Stahle, J.3
  • 48
    • 0028988920 scopus 로고
    • Anticipation in Meniere's disease
    • Morrison AW. Anticipation in Meniere's disease. J Laryngol Otol 1995; 109:499-502.
    • (1995) J Laryngol Otol , vol.109 , pp. 499-502
    • Morrison, A.W.1
  • 49
    • 33746859854 scopus 로고    scopus 로고
    • Familial Meniere's disease in five generations
    • Frykholm C, Larsen HC, Dahl N, et al. Familial Meniere's disease in five generations. Otol Neurotol 2006; 27:681-686.
    • (2006) Otol Neurotol , vol.27 , pp. 681-686
    • Frykholm, C.1    Larsen, H.C.2    Dahl, N.3
  • 50
    • 33846369505 scopus 로고    scopus 로고
    • Inheritance of Meniere's disease in the Finnish population
    • Klockars T, Kentala E. Inheritance of Meniere's disease in the Finnish population. Arch Otolaryngol Head Neck Surg 2007; 133:73-77.
    • (2007) Arch Otolaryngol Head Neck Surg , vol.133 , pp. 73-77
    • Klockars, T.1    Kentala, E.2
  • 51
    • 0036620280 scopus 로고    scopus 로고
    • Genetics (molecular biology) and Meniere's disease
    • Morrison AW, Johnson KJ. Genetics (molecular biology) and Meniere's disease. Otolaryngol Clin North Am 2002; 35:497-516.
    • (2002) Otolaryngol Clin North Am , vol.35 , pp. 497-516
    • Morrison, A.W.1    Johnson, K.J.2
  • 52
    • 33745790726 scopus 로고    scopus 로고
    • Klar J, Frykholm C, Friberg U, Dahl N. A Meniere's disease gene linked to chromosome 12p12.3. Am J Med Genet B Neuropsychiatr Genet 2006; 141:463-467. Linkage study in a multigenerational kindred.
    • Klar J, Frykholm C, Friberg U, Dahl N. A Meniere's disease gene linked to chromosome 12p12.3. Am J Med Genet B Neuropsychiatr Genet 2006; 141:463-467. Linkage study in a multigenerational kindred.


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