Genetic analysis of families with Parkinson disease that carry the Ala53Thr mutation in the gene encoding α-synuclein

被引：107

作者：

Athanassiadou, A ^{[1
]}

Voutsinas, G

Psiouri, L

Leroy, E

Polymeropoulos, MH

Ilias, A

Maniatis, GM

Papapetropoulos, T

机构：

[1] Univ Patras, Fac Med, Dept Biol, Patras, Greece

[2] Univ Patras, Fac Med, Dept Neurol, Patras, Greece

[3] Natl Human Genome Res Inst, Lab Genet Dis Res, NIH, Bethesda, MD USA

[4] Novartis Pharmaceut Corp, Pharmacogenet, Gaithersburg, MD USA

[5] Univ Athens, Eginit Hosp, Athens, Greece

来源：

AMERICAN JOURNAL OF HUMAN GENETICS | 1999年 / 65卷 / 02期

关键词：

D O I：

10.1086/302486

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

引用

页码：555 / 558

页数：4

共 21 条

[1]

Baba M, 1998, AM J PATHOL, V152, P879

[2] Absence of the G209A mutation in the α-synuclein gene in British families with Parkinson's disease [J].

Bennett, P ;

Nicholl, DJ .

NEUROLOGY, 1998, 50 (04) :1183-1183

[3] THE NACP/SYNUCLEIN GENE - CHROMOSOMAL ASSIGNMENT AND SCREENING FOR ALTERATIONS IN ALZHEIMER-DISEASE [J].

CAMPION, D ;

MARTIN, C ;

HEILIG, R ;

CHARBONNIER, F ;

MOREAU, V ;

FLAMAN, JM ;

PETIT, JL ;

HANNEQUIN, D ;

BRICE, A ;

FREBOURG, T .

GENOMICS, 1995, 26 (02) :254-257

[4] Absence of mutations in the coding region of the α-synuclein gene in pathologically proven Parkinson's disease [J].

Chan, P ;

Jiang, X ;

Forno, LS ;

Di Monte, DA ;

Tanner, CM ;

Langston, JW .

NEUROLOGY, 1998, 50 (04) :1136-1137

[5] Failure to find the α-synuclein gene missense mutation (G209A) in 100 patients with younger onset Parkinson's disease [J].

Chan, P ;

Tanner, CM ;

Jiang, X ;

Langston, JW .

NEUROLOGY, 1998, 50 (02) :513-514

[6] THE HUMAN NACP/ALPHA-SYNUCLEIN GENE - CHROMOSOME ASSIGNMENT TO 4Q21.3-Q22 AND TAQI RFLP ANALYSIS [J].

CHEN, XH ;

DESILVA, HAR ;

PETTENATI, MJ ;

RAO, PN ;

STGEORGEHYSLOP, P ;

ROSES, AD ;

XIA, Y ;

HORSBURGH, K ;

UEDA, K ;

SAITOH, T .

GENOMICS, 1995, 26 (02) :425-427

[7] Low frequency of α-synuclein mutations in familial Parkinson's disease [J].

Farrer, M ;

Wavrant-De Vrieze, F ;

Crook, R ;

Boles, L ;

Perez-Tur, J ;

Hardy, J ;

Johnson, WG ;

Steele, J ;

Maraganore, D ;

Gwinn, K ;

Lynch, T .

ANNALS OF NEUROLOGY, 1998, 43 (03) :394-397

[8] THE 1993-94 GENETHON HUMAN GENETIC-LINKAGE MAP [J].

GYAPAY, G ;

MORISSETTE, J ;

VIGNAL, A ;

DIB, C ;

FIZAMES, C ;

MILLASSEAU, P ;

MARC, S ;

BERNARDI, G ;

LATHROP, M ;

WEISSENBACH, J .

NATURE GENETICS, 1994, 7 (02) :246-339

[9] RESIDUES IN THE SYNUCLEIN CONSENSUS MOTIF OF THE ALPHA-SYNUCLEIN FRAGMENT, NAC, PARTICIPATE IN TRANSGLUTAMINASE-CATALYZED CROSS-LINKING TO ALZHEIMER-DISEASE AMYLOID BETA-A4 PEPTIDE [J].

JENSEN, PH ;

SORENSEN, ES ;

PETERSEN, TE ;

GLIEMANN, J ;

RASMUSSEN, LK .

BIOCHEMICAL JOURNAL, 1995, 310 :91-94

[10] Ala30Pro mutation in the gene encoding α-synuclein in Parkinson's disease [J].

Krüger, R ;

Kuhn, W ;

Müller, T ;

Woitalla, D ;

Graeber, M ;

Kösel, S ;

Przuntek, H ;

Epplen, JT ;

Schöls, L ;

Riess, O .

NATURE GENETICS, 1998, 18 (02) :106-108

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