Partial Trisomy 4q Associated With Young-Onset Dopa-Responsive Parkinsonism

被引：16

作者：

Garraux, Gaetan ^{[1
,2
,3
,5
]}

Caberg, Jean-Hubert ^{[4
]}

Vanbellinghen, Jean-Francois ^{[4
]}

Jamar, Mauricette ^{[4
]}

Bours, Vincent ^{[4
]}

Moonen, Gustave ^{[3
]}

Dive, Dominique ^{[3
]}

机构：

[1] Fonds Rech Sci, Brussels, Belgium

[2] Univ Hosp Ctr, MOVERE Grp, Liege, Belgium

[3] Univ Hosp Ctr, Dept Neurol, Liege, Belgium

[4] Univ Hosp Ctr, Dept Human Genet, Liege, Belgium

[5] Univ Liege, MOVERE Grp, Cyclotron Res Ctr, B-4000 Liege, Belgium

来源：

ARCHIVES OF NEUROLOGY | 2012年 / 69卷 / 03期

关键词：

SYNUCLEIN GENE DUPLICATION; ALPHA-SYNUCLEIN; DISEASE; CHROMOSOME; IDENTIFICATION; PHENOTYPE; DEMENTIA; DYSTONIA;

D O I：

10.1001/archneurol.2011.802

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

Objective: To describe a patient who developed a young-onset, dopa-responsive parkinsonism linked to a de novo heterozygous interstitial duplication 4q. Design: Case report. Setting: Movement Disorder Outpatient Clinic at the University Hospital Centre, Liege, Belgium. Patient: A 31-year-old woman. MainOutcome Measures: Clinical, neuroimaging, and genetic data. Results: The duplicated region contains 150 known genes, including the alpha-synuclein (SNCA) gene locus. Motor and 6-[F-18] fluoro-L-dopa positron emission tomography features are similar to those previously reported in heterozygote SNCA duplication carriers. Altered expression of other genes contained in the duplicated region may contribute to clinical features that are uncommon in the phenotypic spectrum of SNCA multiplications such as delayed developmental psychomotor milestones during infancy and musculoskeletal abnormalities. Conclusion: This case report provides new insights on the genetic basis of parkinsonism.

引用

页码：398 / 400

页数：3

共 20 条

[1] α-Synuclein gene duplication is present in sporadic Parkinson disease [J].

Ahn, T. -B. ;

Kim, S. Y. ;

Kim, J. Y. ;

Park, S. -S. ;

Lee, D. S. ;

Min, H. J. ;

Kim, Y. K. ;

Kim, S. E. ;

Kim, J. -M. ;

Kim, H. -J. ;

Cho, J. ;

Jeon, B. S. .

NEUROLOGY, 2008, 70 (01) :43-49

[2] DIFFERING PATTERNS OF STRIATAL F-18 DOPA UPTAKE IN PARKINSONS-DISEASE, MULTIPLE SYSTEM ATROPHY, AND PROGRESSIVE SUPRANUCLEAR PALSY [J].

BROOKS, DJ ;

IBANEZ, V ;

SAWLE, GV ;

QUINN, N ;

LEES, AJ ;

MATHIAS, CJ ;

BANNISTER, R ;

MARSDEN, CD ;

FRACKOWIAK, RSJ .

ANNALS OF NEUROLOGY, 1990, 28 (04) :547-555

[3]

Brueggemann N, 2008, NEUROLOGY, V71, P1294, DOI 10.1212/01.wnl.0000338439.00992.c7

[4] A rare truncating mutation in ADH1C (G 78Stop) shows significant association with Parkinson disease in a large international sample [J].

Buervenich, S ;

Carmine, A ;

Galter, D ;

Shahabi, HN ;

Johnels, B ;

Holmberg, B ;

Ahlberg, J ;

Nissbrandt, H ;

Eerola, J ;

Hellström, O ;

Tienari, P ;

Matsuura, T ;

Ashizawa, T ;

Wüllner, U ;

Klockgether, T ;

Zimprich, A ;

Gasser, T ;

Hanson, M ;

Waseem, S ;

Singleton, A ;

McMahon, FJ ;

Anvret, M ;

Sydow, O ;

Olson, L .

ARCHIVES OF NEUROLOGY, 2005, 62 (01) :74-78

[5] α-synuclein locus duplication as a cause of familial Parkinson's disease [J].

Chartier-Harlin, MC ;

Kachergus, J ;

Roumier, C ;

Mouroux, V ;

Douay, X ;

Lincoln, S ;

Levecque, C ;

Larvor, L ;

Andrieux, J ;

Hulihan, M ;

Waucquier, N ;

Defebvre, L ;

Amouyel, P ;

Farrer, M ;

Destée, A .

LANCET, 2004, 364 (9440) :1167-1169

[6]

HERMANN B, 1974, HUMANGENETIK, V22, P255

[7] α-Synuclein Gene Rearrangements in Dominantly Inherited Parkinsonism Frequency, Phenotype, and Mechanisms [J].

Ibanez, Pablo ;

Lesage, Suzanne ;

Janin, Sabine ;

Lohmann, Ebba ;

Durif, Frank ;

Destee, Alain ;

Bonnet, Anne-Marie ;

Brefel-Courbon, Christine ;

Heath, Simon ;

Zelenika, Diana ;

Agid, Yves ;

Duerr, Alexandra ;

Brice, Alexis .

ARCHIVES OF NEUROLOGY, 2009, 66 (01) :102-108

[8] CYTOGENETIC AND MOLECULAR-IDENTIFICATION OF A DENOVO DIRECT DUPLICATION OF THE LONG ARM OF CHROMOSOME 4(Q21.3-]Q31.3) [J].

JEZIOROWSKA, A ;

CIESLA, W ;

HOUCK, GE ;

YAO, XL ;

HARRIS, MS ;

TRUSZCZAK, B ;

SKORSKI, M ;

JAKUBOWSKI, L ;

JENKINS, EC ;

KALUZEWSKI, B .

AMERICAN JOURNAL OF MEDICAL GENETICS, 1993, 46 (01) :83-&

[9] 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

[10] Imputation of sequence variants for identification of genetic risks for Parkinson's disease: a meta-analysis of genome-wide association studies [J].

Nalls, Michael A. ;

Plagnol, Vincent ;

Hernandez, Dena G. ;

Sharma, Manu ;

Sheerin, Una-Marie ;

Saad, Mohamad ;

Simon-Sanchez, Javier ;

Schulte, Claudia ;

Lesage, Suzanne ;

Sveinbjornsdottir, Sigurlaug ;

Arepalli, Sampath ;

Barker, Roger ;

Ben-Shlomo, Yoav ;

Berendse, Henk W. ;

Berg, Daniela ;

Bhatia, Kailash ;

de Bie, Rob M. A. ;

Biffi, Alessandro ;

Bloem, Bas ;

Bochdanovits, Zoltan ;

Bonin, Michael ;

Bras, Jose M. ;

Brockmann, Kathrin ;

Brooks, Janet ;

Burn, David J. ;

Charlesworth, Gavin ;

Chen, Honglei ;

Chinnery, Patrick F. ;

Chong, Sean ;

Clarke, Carl E. ;

Cookson, Mark R. ;

Cooper, J. Mark ;

Corvol, Jean Christophe ;

Counsell, Carl ;

Damier, Philippe ;

Dartigues, Jean-Francois ;

Deloukas, Panos ;

Deuschl, Guenther ;

Dexter, David T. ;

van Dijk, Karin D. ;

Dillman, Allissa ;

Durif, Frank ;

Duerr, Alexandra ;

Edkins, Sarah ;

Evans, Jonathan R. ;

Foltynie, Thomas ;

Gao, Jianjun ;

Gardner, Michelle ;

Gibbs, J. Raphael ;

Goate, Alison .

LANCET, 2011, 377 (9766) :641-649

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