Genes and parkinsonism

被引：83

作者：

Hardy, J ^{[1
]}

Cookson, MR ^{[1
]}

Singleton, A ^{[1
]}

机构：

[1] NIA, Neurogenet Lab, NIH, Bethesda, MD 20892 USA

来源：

LANCET NEUROLOGY | 2003年 / 2卷 / 04期

关键词：

D O I：

10.1016/S1474-4422(03)00350-8

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

Genetic studies in families with mendelian inheritance of Parkinson's disease (PD) have reported the cloning of several disease-associated genes. These studies of rare familial forms of the disease have cast doubt on our understanding of the role of genetics in typical PD and have complicated the classification of the disorder. However, this genetic information might help us to construct a hypothesis for the pathogenetic processes that underlie PD. In this review we describe the molecular genetics of PD as currently understood to help explain the pathways that underlie neurodegeneration.

引用

页码：221 / 228

页数：8

共 104 条

[41] Improved accuracy of clinical diagnosis of Lewy body Parkinson's disease [J].

Hughes, AJ ;

Daniel, SE ;

Lees, AJ .

NEUROLOGY, 2001, 57 (08) :1497-1499

[42] ACCURACY OF CLINICAL-DIAGNOSIS OF IDIOPATHIC PARKINSONS-DISEASE - A CLINICOPATHOLOGICAL STUDY OF 100 CASES [J].

HUGHES, AJ ;

DANIEL, SE ;

KILFORD, L ;

LEES, AJ .

JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY, 1992, 55 (03) :181-184

[43] Association of missense and 5′-splice-site mutations in tau with the inherited dementia FTDP-17 [J].

Hutton, M ;

Lendon, CL ;

Rizzu, P ;

Baker, M ;

Froelich, S ;

Houlden, H ;

Pickering-Brown, S ;

Chakraverty, S ;

Isaacs, A ;

Grover, A ;

Hackett, J ;

Adamson, J ;

Lincoln, S ;

Dickson, D ;

Davies, P ;

Petersen, RC ;

Stevens, M ;

de Graaff, E ;

Wauters, E ;

van Baren, J ;

Hillebrand, M ;

Joosse, M ;

Kwon, JM ;

Nowotny, P ;

Che, LK ;

Norton, J ;

Morris, JC ;

Reed, LA ;

Trojanowski, J ;

Basun, H ;

Lannfelt, L ;

Neystat, M ;

Fahn, S ;

Dark, F ;

Tannenberg, T ;

Dodd, PR ;

Hayward, N ;

Kwok, JBJ ;

Schofield, PR ;

Andreadis, A ;

Snowden, J ;

Craufurd, D ;

Neary, D ;

Owen, F ;

Oostra, BA ;

Hardy, J ;

Goate, A ;

van Swieten, J ;

Mann, D ;

Lynch, T .

NATURE, 1998, 393 (6686) :702-705

[44] An unfolded putative transmembrane polypeptide, which can lead to endoplasmic reticulum stress, is a substrate of parkin [J].

Imai, Y ;

Soda, M ;

Inoue, H ;

Hattori, N ;

Mizuno, Y ;

Takahashi, R .

CELL, 2001, 105 (07) :891-902

[45] The lore of the RINGs: substrate recognition and catalysis by ubiquitin ligases [J].

Jackson, PK ;

Eldridge, AG ;

Freed, E ;

Furstenthal, L ;

Hsu, JY ;

Kaiser, BK ;

Reimann, JDR .

TRENDS IN CELL BIOLOGY, 2000, 10 (10) :429-439

[46] Mutations in the parkin gene cause autosomal recessive juvenile parkinsonism [J].

Kitada, T ;

Asakawa, S ;

Hattori, N ;

Matsumine, H ;

Yamamura, Y ;

Minoshima, S ;

Yokochi, M ;

Mizuno, Y ;

Shimizu, N .

NATURE, 1998, 392 (6676) :605-608

[47] MPTP induces alpha-synuclein aggregation in the substantia nigra of baboons [J].

Kowall, NW ;

Hantraye, P ;

Brouillet, E ;

Beal, MF ;

McKee, AC ;

Ferrante, RJ .

NEUROREPORT, 2000, 11 (01) :211-213

[48] Parkinson's disease:: one biochemical pathway to fit all genes? [J].

Krüger, R ;

Eberhardt, O ;

Riess, O ;

Schulz, JB .

TRENDS IN MOLECULAR MEDICINE, 2002, 8 (05) :236-240

[49] Familial parkinsonism with synuclein pathology -: Clinical and PET studies of A30P mutation carriers [J].

Krüger, R ;

Kuhn, W ;

Leenders, KL ;

Sprengelmeyer, R ;

Müller, T ;

Woitalla, D ;

Portman, AT ;

Maguire, RP ;

Veenma, L ;

Schröder, U ;

Schöls, L ;

Epplen, JT ;

Riess, O ;

Przuntek, H .

NEUROLOGY, 2001, 56 (10) :1355-1362

[50] 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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