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Volumn 31, Issue 8, 2016, Pages 1226-1230

Motor and Nonmotor Features of Carriers of the p.A53T Alpha-Synuclein Mutation: A Longitudinal Study

(16)  Papadimitriou, Dimitra a,b   Antonelou, Roubina c   Miligkos, Michael d   Maniati, Matina b   Papagiannakis, Nikolaos b,c   Bostantjopoulou, Sevasti e   Leonardos, Athannassios c   Koros, Christos c   Simitsi, Athina c   Papageorgiou, Sokratis G c   Kapaki, Elisabeth f   Alcalay, Roy N g   Papadimitriou, Alexandros a   Athanassiadou, Aglaia h   Stamelou, Maria c,i,j   Stefanis, Leonidas b,c  


Author keywords

A53T; alpha synuclein; asymptomatic; Parkinson's disease; penetrance

Indexed keywords

ALPHA SYNUCLEIN; SNCA PROTEIN, HUMAN;

EID: 84963811810     PISSN: 08853185     EISSN: 15318257     Source Type: Journal    
DOI: 10.1002/mds.26615     Document Type: Article
Times cited : (62)

References (24)
  • 1
    • 0030744876 scopus 로고    scopus 로고
    • Mutation in the alpha-synuclein gene identified in families with Parkinson's disease
    • Polymeropoulos MH, Lavedan C, Leroy E, et al. Mutation in the alpha-synuclein gene identified in families with Parkinson's disease. Science 1997;276:2045-2047.
    • (1997) Science , vol.276 , pp. 2045-2047
    • Polymeropoulos, M.H.1    Lavedan, C.2    Leroy, E.3
  • 2
    • 84879601960 scopus 로고    scopus 로고
    • The many faces of alpha-synuclein mutations
    • Kasten M, Klein C. The many faces of alpha-synuclein mutations. Mov Disord 2013;28:697-701.
    • (2013) Mov Disord , vol.28 , pp. 697-701
    • Kasten, M.1    Klein, C.2
  • 3
    • 52649172690 scopus 로고    scopus 로고
    • Analysis of PARK genes in a Korean cohort of early-onset Parkinson disease
    • Choi JM, Woo MS, Ma HI, et al. Analysis of PARK genes in a Korean cohort of early-onset Parkinson disease. Neurogenetics 2008;9:263-269.
    • (2008) Neurogenetics , vol.9 , pp. 263-269
    • Choi, J.M.1    Woo, M.S.2    Ma, H.I.3
  • 4
    • 70350149351 scopus 로고    scopus 로고
    • A Swedish family with de novo alpha-synuclein A53T mutation: evidence for early cortical dysfunction
    • Puschmann A, Ross OA, Vilariño-Güell C, et al. A Swedish family with de novo alpha-synuclein A53T mutation: evidence for early cortical dysfunction. Parkinsonism Relat Disord 2009;15:627-632.
    • (2009) Parkinsonism Relat Disord , vol.15 , pp. 627-632
    • Puschmann, A.1    Ross, O.A.2    Vilariño-Güell, C.3
  • 7
    • 0038632257 scopus 로고    scopus 로고
    • Clinical characteristics of the alpha-synuclein mutation (G209A)-associated Parkinson's disease in comparison with other forms of familial Parkinson's disease in Greece
    • Papapetropoulos S, Ellul J, Paschalis C, Athanassiadou A, Papadimitriou A, Papapetropoulos T. Clinical characteristics of the alpha-synuclein mutation (G209A)-associated Parkinson's disease in comparison with other forms of familial Parkinson's disease in Greece. Eur J Neurol 2003;10:281-286.
    • (2003) Eur J Neurol , vol.10 , pp. 281-286
    • Papapetropoulos, S.1    Ellul, J.2    Paschalis, C.3    Athanassiadou, A.4    Papadimitriou, A.5    Papapetropoulos, T.6
  • 8
    • 0035031258 scopus 로고    scopus 로고
    • Clinical phenotype in patients with alpha-synuclein Parkinson's disease living in Greece in comparison with patients with sporadic Parkinson's disease
    • Papapetropoulos S, Paschalis C, Athanassiadou A, et al. Clinical phenotype in patients with alpha-synuclein Parkinson's disease living in Greece in comparison with patients with sporadic Parkinson's disease. J Neurol Neurosurg Psychiatry 2001;70:662-665.
    • (2001) J Neurol Neurosurg Psychiatry , vol.70 , pp. 662-665
    • Papapetropoulos, S.1    Paschalis, C.2    Athanassiadou, A.3
  • 9
    • 33750524442 scopus 로고    scopus 로고
    • Dementia with Lewy bodies in an elderly Greek male due to alpha-synuclein gene mutation
    • Morfis L, Cordato DJ. Dementia with Lewy bodies in an elderly Greek male due to alpha-synuclein gene mutation. J Clin Neurosci 2006;13:942-944.
    • (2006) J Clin Neurosci , vol.13 , pp. 942-944
    • Morfis, L.1    Cordato, D.J.2
  • 10
    • 84902257960 scopus 로고    scopus 로고
    • Genetic assessment of familial and early-onset Parkinson's disease in a Greek population
    • Bozi M, Papadimitriou D, Antonellou R, et al. Genetic assessment of familial and early-onset Parkinson's disease in a Greek population. Eur J Neurol 2014;21:963-968.
    • (2014) Eur J Neurol , vol.21 , pp. 963-968
    • Bozi, M.1    Papadimitriou, D.2    Antonellou, R.3
  • 11
    • 78649985545 scopus 로고    scopus 로고
    • The MoCA: well-suited screen for cognitive impairment in Parkinson disease
    • Dalrymple-Alford JC, MacAskill MR, Nakas CT, et al. The MoCA: well-suited screen for cognitive impairment in Parkinson disease. Neurology 2010;75:1717-1725.
    • (2010) Neurology , vol.75 , pp. 1717-1725
    • Dalrymple-Alford, J.C.1    MacAskill, M.R.2    Nakas, C.T.3
  • 12
    • 0023838259 scopus 로고
    • Psychometric properties of the Beck Depression Inventory: twenty-five years of evaluation
    • Beck AT, Steer RA, Garbin MG. Psychometric properties of the Beck Depression Inventory: twenty-five years of evaluation. Clin Psych Rev 1988;8:77-100.
    • (1988) Clin Psych Rev , vol.8 , pp. 77-100
    • Beck, A.T.1    Steer, R.A.2    Garbin, M.G.3
  • 13
    • 33846829903 scopus 로고    scopus 로고
    • Normative data for the “Sniffin' Sticks” including tests of odor identification, odor discrimination, and olfactory thresholds: an upgrade based on a group of more than 3,000 subjects
    • Hummel T, Kobal G, Gudziol H, Mackay-Sim A. Normative data for the “Sniffin' Sticks” including tests of odor identification, odor discrimination, and olfactory thresholds: an upgrade based on a group of more than 3,000 subjects. Eur Arch Otorhinolaryngol 2007;264:237-243.
    • (2007) Eur Arch Otorhinolaryngol , vol.264 , pp. 237-243
    • Hummel, T.1    Kobal, G.2    Gudziol, H.3    Mackay-Sim, A.4
  • 14
    • 84937019624 scopus 로고    scopus 로고
    • Age-specific penetrance of LRRK2 G2019S in the Michael J. Fox Ashkenazi Jewish LRRK2 Consortium
    • Marder K, Wang Y, Alcalay RN, et al. Age-specific penetrance of LRRK2 G2019S in the Michael J. Fox Ashkenazi Jewish LRRK2 Consortium. Neurology 2015;85:89-95.
    • (2015) Neurology , vol.85 , pp. 89-95
    • Marder, K.1    Wang, Y.2    Alcalay, R.N.3
  • 15
    • 0033955806 scopus 로고    scopus 로고
    • Risk factors for dementia, depression and psychosis in long-standing Parkinson's disease
    • Giladi N, Treves TA, Paleacu D, et al. Risk factors for dementia, depression and psychosis in long-standing Parkinson's disease. J Neural Transm 2000;107:59-71.
    • (2000) J Neural Transm , vol.107 , pp. 59-71
    • Giladi, N.1    Treves, T.A.2    Paleacu, D.3
  • 16
    • 84889682335 scopus 로고    scopus 로고
    • Movement disorder society unified Parkinson disease rating scale experiences in daily living: longitudinal changes and correlation with other assessments
    • Lang AE, Eberly S, Goetz CG, et al. Movement disorder society unified Parkinson disease rating scale experiences in daily living: longitudinal changes and correlation with other assessments. Mov Disord 2013;28:1980-1986
    • (2013) Mov Disord , vol.28 , pp. 1980-1986
    • Lang, A.E.1    Eberly, S.2    Goetz, C.G.3
  • 17
    • 84922260502 scopus 로고    scopus 로고
    • Motor phenotype of LRRK2-associated Parkinson's disease: a Tunisian longitudinal study
    • Nabli F, Ben Sassi S, Duda JE, Farrer MJ, Hentati F. Motor phenotype of LRRK2-associated Parkinson's disease: a Tunisian longitudinal study. Mov Disord 2015;30:253-258
    • (2015) Mov Disord , vol.30 , pp. 253-258
    • Nabli, F.1    Ben Sassi, S.2    Duda, J.E.3    Farrer, M.J.4    Hentati, F.5
  • 18
    • 0034788344 scopus 로고    scopus 로고
    • Functional decline in Parkinson disease
    • Jankovic J, Kapadia AS. Functional decline in Parkinson disease. Arch Neurol 2001;58:1611-1615.
    • (2001) Arch Neurol , vol.58 , pp. 1611-1615
    • Jankovic, J.1    Kapadia, A.S.2
  • 19
    • 0029806563 scopus 로고    scopus 로고
    • Clinical genetic analysis of Parkinson's disease in the Contursi kindred
    • Golbe LI, Di Iorio G, Sanges G, et al. Clinical genetic analysis of Parkinson's disease in the Contursi kindred. Ann Neurol 1996;40:767-775.
    • (1996) Ann Neurol , vol.40 , pp. 767-775
    • Golbe, L.I.1    Di Iorio, G.2    Sanges, G.3
  • 20
    • 0029090839 scopus 로고
    • A Greek-American kindred with autosomal dominant, levodopa-responsive parkinsonism and anticipation
    • Markopoulou K, Wszolek ZK, Pfeiffer RF. A Greek-American kindred with autosomal dominant, levodopa-responsive parkinsonism and anticipation. Ann Neurol 1995;38:373-378.
    • (1995) Ann Neurol , vol.38 , pp. 373-378
    • Markopoulou, K.1    Wszolek, Z.K.2    Pfeiffer, R.F.3
  • 21
    • 0033365388 scopus 로고    scopus 로고
    • Genetic analysis of families with Parkinson disease that carry the Ala53Thr mutation in the gene encoding alpha-synuclein
    • Athanassiadou A, Voutsinas G, Psiouri L, et al. Genetic analysis of families with Parkinson disease that carry the Ala53Thr mutation in the gene encoding alpha-synuclein. Am J Hum Genet 1999;65:555-558.
    • (1999) Am J Hum Genet , vol.65 , pp. 555-558
    • Athanassiadou, A.1    Voutsinas, G.2    Psiouri, L.3
  • 22
    • 84918559074 scopus 로고    scopus 로고
    • Disease penetrance of late-onset parkinsonism: a meta-analysis
    • Trinh J, Guella I, Farrer M. Disease penetrance of late-onset parkinsonism: a meta-analysis. JAMA Neurol 2014;71:1535-1539.
    • (2014) JAMA Neurol , vol.71 , pp. 1535-1539
    • Trinh, J.1    Guella, I.2    Farrer, M.3
  • 23
    • 0036653046 scopus 로고    scopus 로고
    • Survival duration of Parkinson's disease patients living in Greece who carry the G209A alpha-synuclein mutation
    • Papapetropoulos S, Paschalis C, Ellul J, Papapetropoulos T, Athanassiadou A. Survival duration of Parkinson's disease patients living in Greece who carry the G209A alpha-synuclein mutation. Mov Disord 2002;17:847-848.
    • (2002) Mov Disord , vol.17 , pp. 847-848
    • Papapetropoulos, S.1    Paschalis, C.2    Ellul, J.3    Papapetropoulos, T.4    Athanassiadou, A.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.