메뉴 건너뛰기




Volumn 28, Issue 2, 2013, Pages 241-245

Atypical Parkinsonism due to a D202N Gerstmann-Sträussler-Scheinker prion protein mutation: First in vivo diagnosed case

Author keywords

Neurodegeneration; Parkinsonism; Prion disease

Indexed keywords

AMYLOID BETA PROTEIN; ASPARAGINE; ASPARTIC ACID; DESMETHOXYFALLYPRIDE F 18; DOPAMINE RECEPTOR STIMULATING AGENT; FLUORODEOXYGLUCOSE F 18; IODINE 123; IOFLUPANE I 123; LEVODOPA; NEURON SPECIFIC ENOLASE; PITTSBURGH COMPOUND B; PRION PROTEIN; PROTEIN S100B; RADIOPHARMACEUTICAL AGENT; ROPINIROLE; TAU PROTEIN; UNCLASSIFIED DRUG; VALINE;

EID: 84874218408     PISSN: 08853185     EISSN: 15318257     Source Type: Journal    
DOI: 10.1002/mds.25188     Document Type: Article
Times cited : (14)

References (20)
  • 1
    • 0001385519 scopus 로고
    • Über ein noch nicht beschriebenes Reflexphänomen bei einer Erkrankung des zerebellaren Systems
    • Gerstmann J. Über ein noch nicht beschriebenes Reflexphänomen bei einer Erkrankung des zerebellaren Systems. Wien Med Wochenschr 1928;78:906-908.
    • (1928) Wien Med Wochenschr , vol.78 , pp. 906-908
    • Gerstmann, J.1
  • 2
    • 51849178459 scopus 로고
    • Über eine eigenartige hereditär-familiäre Erkrankung des Zentralnervensystems
    • Gerstmann J, Sträussler E, Scheinker l. Über eine eigenartige hereditär-familiäre Erkrankung des Zentralnervensystems. Z Neurol 1935;154:736-762.
    • (1935) Z Neurol , vol.154 , pp. 736-762
    • Gerstmann, J.1    Sträussler, E.2    Scheinker, L.3
  • 3
    • 0028990981 scopus 로고
    • The original Gerstmann-Sträussler-Scheinker family of Austria: divergent clinicopathological phenotypes but constant PrP genotype
    • Hainfellner JA, Brantner-Inthaler S, Cerveníkov L, et al. The original Gerstmann-Sträussler-Scheinker family of Austria: divergent clinicopathological phenotypes but constant PrP genotype. Brain Pathol 1995;5:201-211.
    • (1995) Brain Pathol , vol.5 , pp. 201-211
    • Hainfellner, J.A.1    Brantner-Inthaler, S.2    Cerveníkov, L.3
  • 4
    • 0025906297 scopus 로고
    • Prion protein mutation in family first reported by Gerstmann, Sträussler, and Scheinker
    • Kretzschmar HA, Honold G, Seitelberger F, et al. Prion protein mutation in family first reported by Gerstmann, Sträussler, and Scheinker. Lancet 1991;337:1160.
    • (1991) Lancet , vol.337 , pp. 1160
    • Kretzschmar, H.A.1    Honold, G.2    Seitelberger, F.3
  • 5
    • 84874212007 scopus 로고    scopus 로고
    • The Human Genome Mutation Database. Institute of Medical Genetics of the University of Cardiff. Gene symbol PRNP. Available at: Accessed August 26
    • The Human Genome Mutation Database. Institute of Medical Genetics of the University of Cardiff. Gene symbol PRNP. Available at: http://www.hgmd.cf.ac.uk/ac/gene.php?gene=PRNP. Accessed August 26, 2012.
    • (2012)
  • 6
    • 0031754291 scopus 로고    scopus 로고
    • Phenotypic variability of Gerstmann-Sträussler-Scheinker disease is associated with prion protein heterogeneity
    • Piccardo P, Dlouhy SR, Lievens PM, et al. Phenotypic variability of Gerstmann-Sträussler-Scheinker disease is associated with prion protein heterogeneity. J Neuropathol Exp Neurol 1998;57:979-988.
    • (1998) J Neuropathol Exp Neurol , vol.57 , pp. 979-988
    • Piccardo, P.1    Dlouhy, S.R.2    Lievens, P.M.3
  • 7
    • 1842644947 scopus 로고    scopus 로고
    • Inherited prion diseases. In: Prusiner SB, ed. 2nd ed. Woodbury, NY, USA: Cold Spring Harbor Laboratory Press
    • Kong Q, Surewicz WK, Petersen RB, et al. Inherited prion diseases. In: Prusiner SB, ed. Prion Biology and Diseases. 2nd ed. Woodbury, NY, USA: Cold Spring Harbor Laboratory Press; 2004:673-776.
    • (2004) Prion Biology and Diseases , pp. 673-776
    • Kong, Q.1    Surewicz, W.K.2    Petersen, R.B.3
  • 8
    • 84874203805 scopus 로고    scopus 로고
    • Gerstmann-Sträussler-Scheinker disease with progressive supranuclear palsy presentation
    • Fleming AB, Ghetti B, Murrell IR, et al. Gerstmann-Sträussler-Scheinker disease with progressive supranuclear palsy presentation. Dement Geriatr Cogn Disord 2010;30(Suppl 1):43.
    • (2010) Dement Geriatr Cogn Disord , vol.30 , Issue.1 SUPPL. , pp. 43
    • Fleming, A.B.1    Ghetti, B.2    Murrell, I.R.3
  • 9
    • 2342417439 scopus 로고    scopus 로고
    • Repetition, repetition, and repetition: compulsive and punding behaviors in Parkinson's disease
    • Voon V. Repetition, repetition, and repetition: compulsive and punding behaviors in Parkinson's disease. Mov Disord 2004;19:367-370.
    • (2004) Mov Disord , vol.19 , pp. 367-370
    • Voon, V.1
  • 10
    • 18944374033 scopus 로고    scopus 로고
    • The Montreal Cognitive Assessment, MoCA: a brief screening tool for mild cognitive impairment
    • Nasreddine ZS, Phillips NA, Bedirian V, et al. The Montreal Cognitive Assessment, MoCA: a brief screening tool for mild cognitive impairment. J Am Geriatr Soc. 2005;53:695-699.
    • (2005) J Am Geriatr Soc. , vol.53 , pp. 695-699
    • Nasreddine, Z.S.1    Phillips, N.A.2    Bedirian, V.3
  • 12
    • 0025001770 scopus 로고
    • Early-onset dementia and extrapyramidal disease: clinicopathological variant of Gerstmann-Straussler-Scheinker or Alzheimer's disease?
    • Hart J, Jr, Gordon B. Early-onset dementia and extrapyramidal disease: clinicopathological variant of Gerstmann-Straussler-Scheinker or Alzheimer's disease? J Neurol Neurosurg Psychiatry 1990;53:932-934.
    • (1990) J Neurol Neurosurg Psychiatry , vol.53 , pp. 932-934
    • Hart, J.1    Gordon, B.2
  • 13
    • 0037837209 scopus 로고    scopus 로고
    • Phospho-tau/total tau ratio in cerebrospinal fluid discriminates Creutzfeldt-Jakob disease from other dementias
    • Riemenschneider M, Wagenpfeil S, Vanderstichele H, et al. Phospho-tau/total tau ratio in cerebrospinal fluid discriminates Creutzfeldt-Jakob disease from other dementias. Mol Psychiatry 2003;8:343-347.
    • (2003) Mol Psychiatry , vol.8 , pp. 343-347
    • Riemenschneider, M.1    Wagenpfeil, S.2    Vanderstichele, H.3
  • 14
    • 0032585928 scopus 로고    scopus 로고
    • Increased levels of epsilon and gamma isoforms of 14-3-3 proteins in cerebrospinal fluid in patients with Creutzfeldt-Jakob disease
    • Takahashi H, Iwata T, Kitagawa Y, et al. Increased levels of epsilon and gamma isoforms of 14-3-3 proteins in cerebrospinal fluid in patients with Creutzfeldt-Jakob disease. Clin Diagn Lab Immunol 1999;6:983-985.
    • (1999) Clin Diagn Lab Immunol , vol.6 , pp. 983-985
    • Takahashi, H.1    Iwata, T.2    Kitagawa, Y.3
  • 15
    • 0032589831 scopus 로고    scopus 로고
    • Gerstmann-Straussler-Scheinker disease-the dilemma of molecular and clinical correlations
    • Boellaard JW, Brown P, Tateishi J. Gerstmann-Straussler-Scheinker disease-the dilemma of molecular and clinical correlations. Clin Neuropathol 1999;18:271-285.
    • (1999) Clin Neuropathol , vol.18 , pp. 271-285
    • Boellaard, J.W.1    Brown, P.2    Tateishi, J.3
  • 17
    • 24144441743 scopus 로고    scopus 로고
    • Fatal familial insomnia: a model disease in sleep physiopathology
    • Montagna P. Fatal familial insomnia: a model disease in sleep physiopathology. Sleep Med Rev. 2005;9:339-353.
    • (2005) Sleep Med Rev. , vol.9 , pp. 339-353
    • Montagna, P.1
  • 18
    • 64449086040 scopus 로고    scopus 로고
    • Sleep and temperature rhythms in two sisters with P102L Gerstmann-Straussler-Scheinker (GSS) disease
    • Provini F, Vetrugno R, Pierangeli G, et al. Sleep and temperature rhythms in two sisters with P102L Gerstmann-Straussler-Scheinker (GSS) disease. Sleep Med 2009;10:374-377.
    • (2009) Sleep Med , vol.10 , pp. 374-377
    • Provini, F.1    Vetrugno, R.2    Pierangeli, G.3
  • 19
    • 75949105175 scopus 로고    scopus 로고
    • PET of brain prion protein amyloid in Gerstmann-Straussler-Scheinker disease
    • Kepe V, Ghetti B, Farlow MR, et al. PET of brain prion protein amyloid in Gerstmann-Straussler-Scheinker disease. Brain Pathol 2010;20:419-430.
    • (2010) Brain Pathol , vol.20 , pp. 419-430
    • Kepe, V.1    Ghetti, B.2    Farlow, M.R.3
  • 20
    • 0026496257 scopus 로고
    • Fatal familial insomnia and familial Creutzfeldt-Jakob disease: disease phenotype determined by a DNA polymorphism
    • Goldfarb LG, Petersen RB, Tabaton M, et al. Fatal familial insomnia and familial Creutzfeldt-Jakob disease: disease phenotype determined by a DNA polymorphism. Science 1992;258:806-808.
    • (1992) Science , vol.258 , pp. 806-808
    • Goldfarb, L.G.1    Petersen, R.B.2    Tabaton, M.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.