The genetics of Parkinson's syndromes: a critical review

被引：156

作者：

Hardy, John ^{[1
]}

Lewis, Patrick

Revesz, Tamas

Lees, Andrew

Paisan-Ruiz, Coro

机构：

[1] UCL Inst Neurol, Reta Lila Weston Inst, London WC1N 3BG, England

来源：

CURRENT OPINION IN GENETICS & DEVELOPMENT | 2009年 / 19卷 / 03期

基金：

英国医学研究理事会;

关键词：

BRAIN IRON ACCUMULATION; AUTOSOMAL-DOMINANT PARKINSONISM; ALPHA-SYNUCLEIN; ALZHEIMERS-DISEASE; LEWY BODY; PINK1; MUTATIONS; GLUCOCEREBROSIDASE GENE; PYRAMIDAL DEGENERATION; EMERGING PATHWAYS; PROTEIN DJ-1;

D O I：

10.1016/j.gde.2009.03.008

中图分类号：

Q2 [细胞生物学];

学科分类号：

071009 ; 090102 ;

摘要：

Genetic analysis has identified many loci designated as PARK loci (OMIM #168600). Many of these loci do not refer to idiopathic Parkinson's disease which is characterized by Lewy body pathology, but rather to clinical parkinsonisms. In this review, besides reviewing the genetic of the disorder, we argue that this designation is misleading and that if we seek to understand the pathogenesis, we should study the genetics of Lewy body diseases: these include not only idiopathic Parkinson's disease, but also such disparate syndromes as Hallevorden-Spatz disease and Niemann-Pick Type C.

引用

页码：254 / 265

页数：12

共 96 条

[61] L166P mutant DJ-1, causative for recessive Parkinson's disease, is degraded through the ubiquitin-proteasome system [J].

Miller, DW ;

Ahmad, R ;

Hague, S ;

Baptista, MJ ;

Canet-Aviles, R ;

McLendon, C ;

Carter, DM ;

Zhu, PP ;

Stadler, J ;

Chandran, J ;

Klinefelter, GR ;

Blackstone, C ;

Cookson, MR .

JOURNAL OF BIOLOGICAL CHEMISTRY, 2003, 278 (38) :36588-36595

[62] PLA2G6, encoding a phospholipase A2, is mutated in neurodegenerative disorders with high brain iron [J].

Morgan, Neil V. ;

Westaway, Shawn K. ;

Morton, Jenny E. V. ;

Gregory, Allison ;

Gissen, Paul ;

Sonek, Scott ;

Cangul, Hakan ;

Coryell, Jason ;

Canham, Natalie ;

Nardocci, Nardo ;

Zorzi, Giovanna ;

Pasha, Shanaz ;

Rodriguez, Diana ;

Desguerre, Isabelle ;

Mubaidin, Amar ;

Bertini, Enrico ;

Trembath, Richard C. ;

Simonati, Alessandro ;

Schanen, Carolyn ;

Johnson, Colin A. ;

Levinson, Barbara ;

Woods, C. Geoffrey ;

Wilmot, Beth ;

Kramer, Patricia ;

Gitschier, Jane ;

Maher, Eamonn R. ;

Hayflick, Susan J. .

NATURE GENETICS, 2006, 38 (07) :752-754

[63] Multiple regions of α-synuclein are associated with Parkinson's disease [J].

Mueller, JC ;

Fuchs, J ;

Hofer, A ;

Zimprich, A ;

Lichtner, P ;

Illig, T ;

Berg, D ;

Wüllner, U ;

Meitinger, T ;

Gasser, T .

ANNALS OF NEUROLOGY, 2005, 57 (04) :535-541

[64] Hereditary form of parkinsonism-dementia [J].

Muenter, MD ;

Forno, LS ;

Hornykiewicz, O ;

Kish, SJ ;

Maraganore, DM ;

Caselli, RJ ;

Okazaki, H ;

Howard, FM ;

Snow, BJ ;

Calne, DB .

ANNALS OF NEUROLOGY, 1998, 43 (06) :768-781

[65]

NEUMANN J, 2009, BRAIN 0313

[66] α-Synuclein accumulation in a case of neurodegeneration with brain iron accumulation type 1 (NBIA-1, formerly Hallervorden-Spatz syndrome) with widespread cortical and brainstem-type Lewy bodies [J].

Neumann, M ;

Adler, S ;

Schlüter, O ;

Kremmer, E ;

Benecke, R ;

Kretzschmar, HA .

ACTA NEUROPATHOLOGICA, 2000, 100 (05) :568-574

[67] LRRK2 G2019S as a cause of Parkinson's disease in Ashkenazi Jews [J].

Ozelius, LJ ;

Senthil, G ;

Saunders-Pullman, R ;

Ohmann, E ;

Deligtisch, A ;

Tagliati, M ;

Hunt, AL ;

Klein, C ;

Henick, B ;

Hailpern, SM ;

Lipton, RB ;

Soto-Valencia, J ;

Risch, N ;

Bressman, SB .

NEW ENGLAND JOURNAL OF MEDICINE, 2006, 354 (04) :424-425

[68] Cloning of the gene containing mutations that cause PARK8-linked Parkinson's disease [J].

Paisán-Ruíz, C ;

Jain, S ;

Evans, EW ;

Gilks, WP ;

Simón, J ;

van der Brug, M ;

de Munain, AL ;

Aparicio, S ;

Gil, AM ;

Khan, N ;

Johnson, J ;

Martinez, JR ;

Nicholl, D ;

Carrera, IM ;

Pena, AS ;

de Silva, R ;

Lees, A ;

Martí-Massó, JF ;

Pérez-Tur, J ;

Wood, NW ;

Singleton, AB .

NEURON, 2004, 44 (04) :595-600

[69] Characterization of PLA2G6 as a Locus for Dystonia-Parkinsonism [J].

Paisan-Ruiz, Coro ;

Bhatia, Kailash P. ;

Li, Abi ;

Hernandez, Dena ;

Davis, Mary ;

Wood, Nick W. ;

Hardy, John ;

Houlden, Henry ;

Singleton, Andrew ;

Schneider, Susanne A. .

ANNALS OF NEUROLOGY, 2009, 65 (01) :19-23

[70] Mitochondrial dysfunction in Drosophila PINK1 mutants is complemented by parkin [J].

Park, Jeehye ;

Lee, Sung Bae ;

Lee, Sungkyu ;

Kim, Yongsung ;

Song, Saera ;

Kim, Sunhong ;

Bae, Eunkyung ;

Kim, Jaeseob ;

Shong, Minho ;

Kim, Jin-Man ;

Chung, Jongkyeong .

NATURE, 2006, 441 (7097) :1157-1161

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