메뉴 건너뛰기




Volumn 82, Issue 23, 2014, Pages 2107-2111

Gerstmann-Straüssler-Scheinker disease: Novel PRNP mutation and VGKC-complex antibodies

Author keywords

[No Author keywords available]

Indexed keywords

ANTICONVULSIVE AGENT; AXONIN 1; CONTACTIN ASSOCIATED PROTEIN LIKE 2; DNA; GLIOMA INACTIVATED PROTEIN 1; IMMUNOGLOBULIN; IMMUNOGLOBULIN G; MYCOPHENOLIC ACID 2 MORPHOLINOETHYL ESTER; P84S PROTEIN; PREDNISOLONE; PRION PROTEIN; PROTEIN; PROTEIN ANTIBODY; RITUXIMAB; UNCLASSIFIED DRUG; VOLTAGE GATED POTASSIUM CHANNEL; VOLTAGE GATED POTASSIUM CHANNEL COMPLEX ANTIBODY;

EID: 84904015573     PISSN: 00283878     EISSN: 1526632X     Source Type: Journal    
DOI: 10.1212/WNL.0000000000000500     Document Type: Article
Times cited : (23)

References (25)
  • 1
    • 10744229052 scopus 로고    scopus 로고
    • Potassium channel antibody associated encephalopathy: A potentially immunotherapy responsive form of limbic encephalitis
    • Vincent A, Buckley C, Schott JM, et al. Potassium channel antibody associated encephalopathy: a potentially immunotherapy responsive form of limbic encephalitis. Brain 2004;127: 701-712.
    • (2004) Brain , vol.127 , pp. 701-712
    • Vincent, A.1    Buckley, C.2    Schott, J.M.3
  • 2
    • 77956378343 scopus 로고    scopus 로고
    • Antibodies to kv1 potassium channel-complex proteins leucine-rich, glioma inactivated 1 protein and contactin-Associated protein-2 in limbic encephalitis, morvan's syndrome and acquired neuromyotonia
    • Irani S, Alexander S, Waters P, et al. Antibodies to Kv1 potassium channel-complex proteins leucine-rich, glioma inactivated 1 protein and contactin-Associated protein-2 in limbic encephalitis, Morvan's syndrome and acquired neuromyotonia. Brain 2010;133: 2734-2748.
    • (2010) Brain , vol.133 , pp. 2734-2748
    • Irani, S.1    Alexander, S.2    Waters, P.3
  • 3
    • 77957955046 scopus 로고    scopus 로고
    • Autoimmune dementia: Clinical course and predictors of immunotherapy response
    • Flanagan E, McKeon A, Lennon V, et al. Autoimmune dementia: clinical course and predictors of immunotherapy response. Mayo Clin Proc 2010;85: 881-897.
    • (2010) Mayo Clin Proc , vol.85 , pp. 881-897
    • Flanagan, E.1    McKeon, A.2    Lennon, V.3
  • 4
    • 84855458665 scopus 로고    scopus 로고
    • Vgkc positive autoimmune encephalopathy mimicking dementia
    • Molloy A, Cassidy E, Ryan A, O'Toole O. VGKC positive autoimmune encephalopathy mimicking dementia. BMJ Case Rep 2011;2011: bcr0820114642.
    • (2011) BMJ Case Rep , vol.2011
    • Molloy, A.1    Cassidy, E.2    Ryan, A.3    O'Toole, O.4
  • 5
    • 54049144678 scopus 로고    scopus 로고
    • Voltage-gated potassium channel autoimmunity mimicking creutzfeldt-jakob disease
    • Geschwind M, Tan K, Lennon V, et al. Voltage-gated potassium channel autoimmunity mimicking Creutzfeldt-Jakob disease. Arch Neurol 2008;65: 1341-1346.
    • (2008) Arch Neurol , vol.65 , pp. 1341-1346
    • Geschwind, M.1    Tan, K.2    Lennon, V.3
  • 6
    • 79955422946 scopus 로고    scopus 로고
    • Faciobrachial dystonic seizures precede lgi1 antibody limbic encephalitis
    • Irani SR, Michell AW, Lang B, et al. Faciobrachial dystonic seizures precede Lgi1 antibody limbic encephalitis. Ann Neurol 2011;69: 892-900.
    • (2011) Ann Neurol , vol.69 , pp. 892-900
    • Irani, S.R.1    Michell, A.W.2    Lang, B.3
  • 7
    • 84876057453 scopus 로고    scopus 로고
    • Variably proteasesensitive prionopathy in the uk: A retrospective review 1991-2008
    • Head MW, Yull HM, Ritchie DL, et al. Variably proteasesensitive prionopathy in the UK: a retrospective review 1991-2008. Brain 2013;136: 1102-1115.
    • (2013) Brain , vol.136 , pp. 1102-1115
    • Head, M.W.1    Yull, H.M.2    Ritchie, D.L.3
  • 8
    • 84859800094 scopus 로고    scopus 로고
    • Immunopathology of autoantibody-Associated encephalitides: Clues for pathogenesis
    • Bien CG, Vincent A, Barnett MH, et al. Immunopathology of autoantibody-Associated encephalitides: clues for pathogenesis. Brain 2012;135: 1622-1638.
    • (2012) Brain , vol.135 , pp. 1622-1638
    • Bien, C.G.1    Vincent, A.2    Barnett, M.H.3
  • 10
    • 40849086590 scopus 로고    scopus 로고
    • Csf findings in patients with voltage gated potassium channel antibody associated limbic encephalitis
    • Jarius S, Hoffmann L, Clover L, Vincent A, Voltz R. CSF findings in patients with voltage gated potassium channel antibody associated limbic encephalitis. J Neurol Sci 2008; 268: 74-77.
    • (2008) J Neurol Sci , vol.268 , pp. 74-77
    • Jarius, S.1    Hoffmann, L.2    Clover, L.3    Vincent, A.4    Voltz, R.5
  • 11
    • 84873411213 scopus 로고    scopus 로고
    • Diagnostic value of csf findings in antibody-Associated limbic and anti-nmdarencephalitis
    • Malter MP, Elger CE, Surges R. Diagnostic value of CSF findings in antibody-Associated limbic and anti-NMDARencephalitis. Seizure 2013;22: 136-140.
    • (2013) Seizure , vol.22 , pp. 136-140
    • Malter, M.P.1    Elger, C.E.2    Surges, R.3
  • 12
    • 54949126830 scopus 로고    scopus 로고
    • Phenotypic heterogeneity and genetic modification of p102l inherited prion disease in an international series
    • Webb T, Poulter M, Beck J, et al. Phenotypic heterogeneity and genetic modification of P102L inherited prion disease in an international series. Brain 2008;131: 2632-2646.
    • (2008) Brain , vol.131 , pp. 2632-2646
    • Webb, T.1    Poulter, M.2    Beck, J.3
  • 13
    • 33749248163 scopus 로고    scopus 로고
    • Inherited prion disease with six octapeptide repeat insertional mutation: Molecular analysis of phenotypic heterogeneity
    • Mead S, Poulter M, Beck J, et al. Inherited prion disease with six octapeptide repeat insertional mutation: molecular analysis of phenotypic heterogeneity. Brain 2006;129: 2297-2317.
    • (2006) Brain , vol.129 , pp. 2297-2317
    • Mead, S.1    Poulter, M.2    Beck, J.3
  • 14
    • 84857121123 scopus 로고    scopus 로고
    • NHLBI Exome Sequencing Project. Available at. Accessed February 5
    • NHLBI Exome Sequencing Project. Exome Variant Server. Available at: evs.gs.washington.edu/EVS/. Accessed February 5, 2014.
    • Exome Variant Server , pp. 2014
  • 16
    • 77954102231 scopus 로고    scopus 로고
    • Prnp allelic series from 19 years of prion protein gene sequencing at the mrc prion unit
    • Beck JA, Poulter M, Campbell TA, et al. PRNP allelic series from 19 years of prion protein gene sequencing at the MRC Prion Unit. Hum Mutat 2010;31: E1551-E1563.
    • (2010) Hum Mutat , vol.31
    • Beck, J.A.1    Poulter, M.2    Campbell, T.A.3
  • 17
    • 84903965561 scopus 로고    scopus 로고
    • PolyPhen-2. Accessed February 5. Available at
    • PolyPhen-2. Prediction of functional effects of human nsSNPs. Available at: genetics.bwh.harvard.edu/pph2/. Accessed February 5, 2014.
    • (2014) Prediction of Functional Effects of Human Nssnps
  • 18
    • 0035902531 scopus 로고    scopus 로고
    • Location and properties of metal-binding sites on the human prion protein
    • Jackson GS, Murray I, Hosszu LL, et al. Location and properties of metal-binding sites on the human prion protein. Proc Natl Acad Sci USA 2001;98: 8531-8535.
    • (2001) Proc Natl Acad Sci USA , vol.98 , pp. 8531-8535
    • Jackson, G.S.1    Murray, I.2    Hosszu, L.L.3
  • 19
    • 0034810585 scopus 로고    scopus 로고
    • Aberrant metal binding by prion protein in human prion disease
    • Wong BS, Chen SG, Colucci M, et al. Aberrant metal binding by prion protein in human prion disease. J Neurochem 2001;78: 1400-1408.
    • (2001) J Neurochem , vol.78 , pp. 1400-1408
    • Wong, B.S.1    Chen, S.G.2    Colucci, M.3
  • 20
    • 84867331478 scopus 로고    scopus 로고
    • Nmda receptor autoantibodies in sporadic creutzfeldt-jakob disease
    • Mackay G, Ahmad K, Stone J, et al. NMDA receptor autoantibodies in sporadic Creutzfeldt-Jakob disease. J Neurol 2012;259: 1979-1981.
    • (2012) J Neurol , vol.259 , pp. 1979-1981
    • Mackay, G.1    Ahmad, K.2    Stone, J.3
  • 22
    • 84892399456 scopus 로고    scopus 로고
    • Determination of neuronal antibodies in suspected and definite creutzfeldt-jakob disease
    • Grau-Rivera O, Sanchez-Valle R, Saiz A, et al. Determination of neuronal antibodies in suspected and definite Creutzfeldt-Jakob disease. JAMA Neurol 2014;71: 74-78.
    • (2014) JAMA Neurol , vol.71 , pp. 74-78
    • Grau-Rivera, O.1    Sanchez-Valle, R.2    Saiz, A.3
  • 23
    • 33645053556 scopus 로고    scopus 로고
    • Serum antibodies in epilepsy and seizure-Associated disorders
    • McKnight K, Jiang Y, Hart Y, et al. Serum antibodies in epilepsy and seizure-Associated disorders. Neurology 2005; 65: 1730-1736.
    • (2005) Neurology , vol.65 , pp. 1730-1736
    • McKnight, K.1    Jiang, Y.2    Hart, Y.3
  • 24
    • 84899980578 scopus 로고    scopus 로고
    • Clinical relevance of positive voltage-gated potassium channel (vgkc)-complex antibodies: Experience from a tertiary referral centre
    • Jun 11
    • Paterson RW, Zandi MS, Armstrong R, Vincent A, Schott JM. Clinical relevance of positive voltage-gated potassium channel (VGKC)-complex antibodies: experience from a tertiary referral centre. J Neurol Neurosurg Psychiatry Epub 2013 Jun 11.
    • (2013) J Neurol Neurosurg Psychiatry Epub
    • Paterson, R.W.1    Zandi, M.S.2    Armstrong, R.3    Vincent, A.4    Schott, J.M.5
  • 25
    • 84860918793 scopus 로고    scopus 로고
    • Central nervous system neuronal surface antibody associated syndromes: Review and guidelines for recognition
    • Zuliani L, Graus F, Giometto B, Bien C, Vincent A. Central nervous system neuronal surface antibody associated syndromes: review and guidelines for recognition. J Neurol Neurosurg Psychiatry 2012;83: 638-645.
    • (2012) J Neurol Neurosurg Psychiatry , vol.83 , pp. 638-645
    • Zuliani, L.1    Graus, F.2    Giometto, B.3    Bien, C.4    Vincent, A.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.