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Volumn 22, Issue 7, 2007, Pages 1024-1026

PRKCG mutation (SCA-14) causing a Ramsay Hunt phenotype

Author keywords

Dystonia; Myoclonus; Progressive myoclonic ataxia; Protein kinase C gamma (PRKCG); Ramsay Hunt; Spinocerebellar ataxia type 14 (SCA 14)

Indexed keywords

CLONAZEPAM; VALPROIC ACID;

EID: 34347239706     PISSN: 08853185     EISSN: 15318257     Source Type: Journal    
DOI: 10.1002/mds.21414     Document Type: Article
Times cited : (21)

References (13)
  • 1
    • 77957177337 scopus 로고
    • Dyssynergia cerebellaris myoclonica - primary atrophy of the dentate system: A contribution to the pathology and symptomatology of the cerebellum
    • Hunt JR. Dyssynergia cerebellaris myoclonica - primary atrophy of the dentate system: a contribution to the pathology and symptomatology of the cerebellum. Brain 1922;44:490-538.
    • (1922) Brain , vol.44 , pp. 490-538
    • Hunt, J.R.1
  • 2
  • 3
    • 0025167681 scopus 로고
    • Progressive myoclonic ataxia (the Ramsay Hunt syndrome)
    • Marsden CD, Harding AE, Obeso JA, Lu CS. Progressive myoclonic ataxia (the Ramsay Hunt syndrome). Arch Neurol 1990;47:1121-1125.
    • (1990) Arch Neurol , vol.47 , pp. 1121-1125
    • Marsden, C.D.1    Harding, A.E.2    Obeso, J.A.3    Lu, C.S.4
  • 4
    • 0037385006 scopus 로고    scopus 로고
    • Missense mutations in the regulatory domain of PKC gamma: A new mechanism for dominant nonepisodic cerebellar ataxia
    • Chen DH, Brkanac Z, Verlinde CL, et al. Missense mutations in the regulatory domain of PKC gamma: a new mechanism for dominant nonepisodic cerebellar ataxia. Am J Hum Genet 2003;72:839-849.
    • (2003) Am J Hum Genet , vol.72 , pp. 839-849
    • Chen, D.H.1    Brkanac, Z.2    Verlinde, C.L.3
  • 5
    • 20344370767 scopus 로고    scopus 로고
    • Gly118Asp is a SCA14 founder mutation in the Dutch ataxia population
    • Verbeek DS, Warrenburg BP, Hennekam FA, et al. Gly118Asp is a SCA14 founder mutation in the Dutch ataxia population. Hum Genet 2005;117:88-91.
    • (2005) Hum Genet , vol.117 , pp. 88-91
    • Verbeek, D.S.1    Warrenburg, B.P.2    Hennekam, F.A.3
  • 6
    • 0346734156 scopus 로고    scopus 로고
    • Identification of a novel SCA14 mutation in a Dutch autosomal dominant cerebellar ataxia family
    • van de Warrenburg BP, Verbeek DS, Piersma SJ, et al. Identification of a novel SCA14 mutation in a Dutch autosomal dominant cerebellar ataxia family. Neurology 2003;61:1760-1765.
    • (2003) Neurology , vol.61 , pp. 1760-1765
    • van de Warrenburg, B.P.1    Verbeek, D.S.2    Piersma, S.J.3
  • 7
    • 28144460707 scopus 로고    scopus 로고
    • Spinocerebellar ataxia type 14: Study of a family with an exon 5 mutation in the PRKCG gene
    • Fahey MC, Knight MA, Shaw JH, et al. Spinocerebellar ataxia type 14: study of a family with an exon 5 mutation in the PRKCG gene. J Neurol Neurosurg Psychiatry 2005;76:1720-1722.
    • (2005) J Neurol Neurosurg Psychiatry , vol.76 , pp. 1720-1722
    • Fahey, M.C.1    Knight, M.A.2    Shaw, J.H.3
  • 8
    • 0033866835 scopus 로고    scopus 로고
    • A novel locus for dominant cerebellar ataxia (SCA14) maps to a 10.2-cM interval flanked by D19S206 and D19S605 on chromosome 19q13.4-qter
    • Yamashita I, Sasaki H, Yabe I, et al. A novel locus for dominant cerebellar ataxia (SCA14) maps to a 10.2-cM interval flanked by D19S206 and D19S605 on chromosome 19q13.4-qter. Ann Neurol 2000;48:156-163.
    • (2000) Ann Neurol , vol.48 , pp. 156-163
    • Yamashita, I.1    Sasaki, H.2    Yabe, I.3
  • 9
    • 27644586218 scopus 로고    scopus 로고
    • New mutations in protein kinase C gamma associated with spinocerebellar ataxia type 14
    • Klebe S, Durr A, Rentschler A, et al. New mutations in protein kinase C gamma associated with spinocerebellar ataxia type 14. Ann Neurol 2005;58:720-729.
    • (2005) Ann Neurol , vol.58 , pp. 720-729
    • Klebe, S.1    Durr, A.2    Rentschler, A.3
  • 10
    • 4043178555 scopus 로고    scopus 로고
    • Mutation in the catalytic domain of protein kinase C gamma and extension of the phenotype associated with spinocerebellar ataxia type 14
    • Stevanin G, Hahn V, Lohmann E, et al. Mutation in the catalytic domain of protein kinase C gamma and extension of the phenotype associated with spinocerebellar ataxia type 14. Arch Neurol 2004;61:1242-1248.
    • (2004) Arch Neurol , vol.61 , pp. 1242-1248
    • Stevanin, G.1    Hahn, V.2    Lohmann, E.3
  • 11
    • 33746875548 scopus 로고    scopus 로고
    • Novel PRKCG/SCA14 mutation in a Dutch spinocerebellar ataxia family: Expanding the phenotype
    • Vlak MH, Sinke RJ, Rabelink GM, Kremer BP, van de Warrenburg BP. Novel PRKCG/SCA14 mutation in a Dutch spinocerebellar ataxia family: expanding the phenotype. Mov Disord 2006;21:1025-1028.
    • (2006) Mov Disord , vol.21 , pp. 1025-1028
    • Vlak, M.H.1    Sinke, R.J.2    Rabelink, G.M.3    Kremer, B.P.4    van de Warrenburg, B.P.5
  • 12
    • 0036340697 scopus 로고    scopus 로고
    • A new dominant spinocerebellar ataxia linked to chromosome 19q13.4-qter
    • Brkanac Z, Bylenok L, Fernandez M, et al. A new dominant spinocerebellar ataxia linked to chromosome 19q13.4-qter. Arch Neurol 2002;59:1291-1295.
    • (2002) Arch Neurol , vol.59 , pp. 1291-1295
    • Brkanac, Z.1    Bylenok, L.2    Fernandez, M.3
  • 13
    • 0034724141 scopus 로고    scopus 로고
    • Cortical myoclonus and cerebellar pathology
    • Tijssen MA, Thom M, Ellison DW, et al. Cortical myoclonus and cerebellar pathology. Neurology 2000;54:1350-1356.
    • (2000) Neurology , vol.54 , pp. 1350-1356
    • Tijssen, M.A.1    Thom, M.2    Ellison, D.W.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.