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
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
收藏
页码:254 / 265
页数:12
相关论文
共 96 条
[91]   Variant Alzheimer's disease with spastic paraparesis - Clinical characterization [J].
Verkkoniemi, A ;
Somer, M ;
Rinne, JO ;
Myllykangas, L ;
Crook, R ;
Hardy, J ;
Viitanen, M ;
Kalimo, H ;
Haltia, M .
NEUROLOGY, 2000, 54 (05) :1103-1109
[92]   Kufor Rakeb disease: Autosomal recessive, levodopa-responsive parkinsonism with pyramidal degeneration, supranuclear gaze palsy, and dementia [J].
Williams, DR ;
Hadeed, A ;
Al-Din, ASN ;
Wreikat, AL ;
Lees, AJ .
MOVEMENT DISORDERS, 2005, 20 (10) :1264-1271
[93]   Neuropathology provides clues to the pathophysiology of Gaucher disease [J].
Wong, KD ;
Sidransky, E ;
Verma, A ;
Mixon, TH ;
Sandberg, GD ;
Wakefield, LK ;
Morrison, A ;
Lwin, A ;
Colegial, C ;
Allman, JM ;
Schiffmann, R .
MOLECULAR GENETICS AND METABOLISM, 2004, 82 (03) :192-207
[94]   The new mutation, E46K, of α-synuclein causes Parkinson and Lewy body dementia [J].
Zarranz, JJ ;
Alegre, J ;
Gómez-Esteban, JC ;
Lezcano, E ;
Ros, R ;
Ampuero, I ;
Vidal, L ;
Hoenicka, J ;
Rodriguez, O ;
Atarés, B ;
Llorens, V ;
Tortosa, EG ;
del Ser, T ;
Muñoz, DG ;
de Yebenes, JG .
ANNALS OF NEUROLOGY, 2004, 55 (02) :164-173
[95]   A novel pantothenate kinase gene (PANK2) is defective in Hallervorden-Spatz syndrome [J].
Zhou, B ;
Westaway, SK ;
Levinson, B ;
Johnson, MA ;
Gitschier, J ;
Hayflick, SJ .
NATURE GENETICS, 2001, 28 (04) :345-349
[96]   Mutations in LRRK2 cause autosomal-dominant Parkinsonism with pleomorphic pathology [J].
Zimprich, A ;
Biskup, S ;
Leitner, P ;
Lichtner, P ;
Farrer, M ;
Lincoln, S ;
Kachergus, J ;
Hulihan, M ;
Uitti, RJ ;
Calne, DB ;
Stoessl, AJ ;
Pfeiffer, RF ;
Patenge, N ;
Carbajal, IC ;
Vieregge, P ;
Asmus, F ;
Müller-Myhsok, B ;
Dickson, DW ;
Meitinger, T ;
Strom, TM ;
Wszolek, ZK ;
Gasser, T .
NEURON, 2004, 44 (04) :601-607