Clinical and positron emission tomography of Parkinson's disease caused by LRRK2

被引：95

作者：

Hernandez, DG

Paisán-Ruíz, C

McInerney-Leo, A

Jain, S

Meyer-Lindenberg, A

Evans, EW

Berman, KF

Johnson, J

Auburger, G

Schäffer, AA

Lopez, GJ

Nussbaum, RL

Singleton, AB

机构：

[1] NIA, Neurogenet Lab, NIH, Mol Genet Unit,Dept Hlth & Human Serv,Porter Neur, Bethesda, MD 20892 USA

[2] CSIC, Unitat Genet Mol, Dept Genomica & Prot, Inst Biomed Valencia, Valencia, Spain

[3] NHGRI, Genet Dis Res Branch, NIH, Dept Hlth & Human Serv, Bethesda, MD 20892 USA

[4] Reta Lila Weston Inst Neurol Sci, London, England

[5] Inst Neurol, Dept Mol Neurosci, London WC1N 3BG, England

[6] NIMH, Unit Integrat Neuroimaging, Genes Cognit & Psychosis Program, NIH, Bethesda, MD 20892 USA

[7] Univ Frankfurt, Mol Genet Sect, Neurol Clin, D-6000 Frankfurt, Germany

[8] NIH, Natl Ctr Biotechnol Informat, Dept Hlth & Human Serv, Bethesda, MD 20892 USA

来源：

ANNALS OF NEUROLOGY | 2005年 / 57卷 / 03期

关键词：

D O I：

10.1002/ana.20401

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

We have recently identified mutations in a gene leucine-rich repeat kinase-2 (LRRK2), which cause autosomal dominant Parkinson's disease. Here, we describe two families with autosomal dominant Parkinson's disease caused by a LRRK2 G2019S mutation. We present here a clinical description of patients, including 6-F-18-fluoro-L-dopa positron emission tomography and discuss the potential implications of this mutation, which alters a conserved residue in a domain required for kinase activation.

引用

页码：453 / 456

页数：4

共 9 条

[1] PROTEIN KINASES .6. THE EUKARYOTIC PROTEIN-KINASE SUPERFAMILY - KINASE (CATALYTIC) DOMAIN-STRUCTURE AND CLASSIFICATION [J].

HANKS, SK ;

HUNTER, T .

FASEB JOURNAL, 1995, 9 (08) :576-596

[2] PRESENILE-DEMENTIA AND CEREBRAL-HEMORRHAGE LINKED TO A MUTATION AT CODON-692 OF THE BETA-AMYLOID PRECURSOR PROTEIN GENE [J].

HENDRIKS, L ;

VANDUIJN, CM ;

CRAS, P ;

CRUTS, M ;

VANHUL, W ;

VANHARSKAMP, F ;

WARREN, A ;

MCINNIS, MG ;

ANTONARAKIS, SE ;

MARTIN, JJ ;

HOFMAN, A ;

VAN BROECKHOVEN, C .

NATURE GENETICS, 1992, 1 (03) :218-221

[3] 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

[4] Progression of nigrostriatal dysfunction in a parkin kindred:: an [18F] dopa PET and clinical study [J].

Khan, NL ;

Brooks, DJ ;

Pavese, N ;

Sweeney, MG ;

Wood, NW ;

Lees, AJ ;

Piccini, P .

BRAIN, 2002, 125 :2248-2256

[5] Reduced prefrontal activity predicts exaggerated striatal dopaminergic function in schizophrenia [J].

Meyer-Lindenberg, A ;

Miletich, RS ;

Kohn, PD ;

Esposito, G ;

Carson, RE ;

Quarantelli, M ;

Weinberger, DR ;

Berman, KF .

NATURE NEUROSCIENCE, 2002, 5 (03) :267-271

[6] 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

[7] Mutation in the alpha-synuclein gene identified in families with Parkinson's disease [J].

Polymeropoulos, MH ;

Lavedan, C ;

Leroy, E ;

Ide, SE ;

Dehejia, A ;

Dutra, A ;

Pike, B ;

Root, H ;

Rubenstein, J ;

Boyer, R ;

Stenroos, ES ;

Chandrasekharappa, S ;

Athanassiadou, A ;

Papapetropoulos, T ;

Johnson, WG ;

Lazzarini, AM ;

Duvoisin, RC ;

DiIorio, G ;

Golbe, LI ;

Nussbaum, RL .

SCIENCE, 1997, 276 (5321) :2045-2047

[8]

RULZ CP, 2004, UNPUB FAMILIAL AUTOS

[9] 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

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