Partial trisomy 4q associated with young-onset dopa-responsive parkinsonism

Archives of Neurology

Volumn 69, Issue 3, 2012, Pages 398-400

  Garraux, Gaëtan ^a,b,c   Caberg, Jean Hubert ^b   Vanbellinghen, Jean Franco̧is ^b,d   Jamar, Mauricette ^b   Bours, Vincent ^b   Moonen, Gustave ^b   Dive, Dominique ^b  

^a Le Fonds de la Recherche Scientifique   (Belgium)

^b UNIVERSITY OF LIÈGE   (Belgium)

^c UNIVERSITY OF LIÈGE   (Belgium)

^d Institut de Pathologie et de Génétique ASBL   (Belgium)

Author keywords

[No Author keywords available]

Indexed keywords

6 FLUORODOPA F 18; CYSTEINE ETHYL ESTER TC 99M; DOPAMINE RECEPTOR STIMULATING AGENT; LEVODOPA;

ADULT; ARTICLE; ATAXIA; BALANCE DISORDER; CASE REPORT; CHROMOSOME 4Q; CLINICAL FEATURE; DYSKINESIA; FEMALE; FOLLOW UP; GENE; GENE LOCUS; HUMAN; HYDROCEPHALUS; HYDROMYELIA; MENTAL DEFICIENCY; MUSCLE ATROPHY; MUSCLE HYPOTONIA; NOCTURIA; NUCLEAR MAGNETIC RESONANCE IMAGING; OUTCOME ASSESSMENT; PARKINSONISM; PARTIAL TRISOMY 4; PARTIAL TRISOMY 4Q; PHYSICAL EXAMINATION; PRIORITY JOURNAL; SCNA GENE; SCOLIOSIS; SINGLE PHOTON EMISSION COMPUTER TOMOGRAPHY;

ADULT; AGE OF ONSET; ALPHA-SYNUCLEIN; ANTIPARKINSON AGENTS; CHROMOSOMES, HUMAN, PAIR 4; DIHYDROXYPHENYLALANINE; DOPAMINE AGONISTS; FEMALE; GENE DUPLICATION; HUMANS; INTELLECTUAL DISABILITY; KARYOTYPING; LEVODOPA; MAGNETIC RESONANCE IMAGING; PARKINSON DISEASE; POSITRON-EMISSION TOMOGRAPHY; RADIOPHARMACEUTICALS; TRISOMY;

EID: 84858590435     PISSN: 00039942     EISSN: 15383687     Source Type: Journal    
DOI: 10.1001/archneurol.2011.802     Document Type: Article

References (19)

1. Spillantini MG, Schmidt ML, Lee VM, Trojanowski JQ, Jakes R, Goedert M. Alpha-synuclein in Lewy bodies. Nature. 1997;388(6645):839-840.
2. Nalls MA, Plagnol V, Hernandez DG, et al International Parkinson Disease Genomics Consortium. Imputation of sequence variants for identification of genetic risks for Parkinson's disease: a meta-analysis of genome-wide association studies. Lancet. 2011;377(9766):641-649.
3. Herman B, Distèche C, Ghymers D, Frederic J. Un cas d'allongement des bras longs d'un chromosome B4 par insertion [46XX:ins. (4?)(q23?)]. Hum Genet. 1974;22(3):255-260.
4. Muenter MD, Forno LS, Hornykiewicz O, et al. Hereditary form of parkinsonism:dementia. Ann Neurol. 1998;43(6):768-781.
5. Ahn TB, Kim SY, Kim JY, et al. Alpha-Synuclein gene duplication is present in sporadic Parkinson disease. Neurology. 2008;70(1):43-49.
6. Brooks DJ, Ibanez V, Sawle GV, et al. Differing patterns of striatal 18F-dopa uptake in Parkinson's disease, multiple system atrophy, and progressive supranuclear palsy. Ann Neurol. 1990;28(4):547-555. (Pubitemid 20359162)
7. Chartier-Harlin MC, Kachergus J, Roumier C, et al. Alpha-synuclein locus duplication as a cause of familial Parkinson's disease. Lancet. 2004;364(9440): 1167-1169. (Pubitemid 39296604)
8. Nishioka K, Ross OA, Ishii K, et al. Expanding the clinical phenotype of SNCA duplication carriers. Mov Disord. 2009;24(12):1811-1819.
9. Brueggemann N, Odin P, Gruenewald A, et al. Re: Alpha-synuclein gene duplication is present in sporadic Parkinson disease. Neurology. 2008;71(16):1294.
10. Sironi F, Trotta L, Antonini A, et al. Alpha-Synuclein multiplication analysis in Italian familial Parkinson disease. Parkinsonism Relat Disord. 2010;16(3):228-231.
11. Puschmann A, Wszolek ZK, Farrer M, Gustafson L, Widner H, Nilsson C. Alpha-synuclein multiplications with parkinsonism, dementia or progressive myoclonus? Parkinsonism Relat Disord. 2009;15(5):390-392.
12. Nygaard TG, Takahashi H, Heiman GA, Snow BJ, Fahn S, Calne DB. Long-term treatment response and fluorodopa positron emission tomographic scanning of parkinsonism in a family with dopa-responsive dystonia. Ann Neurol. 1992;32(5):603-608.
13. Sawle GV, Leenders KL, Brooks DJ, et al. Dopa-responsive dystonia: [18F]dopa positron emission tomography. Ann Neurol. 1991;30(1):24-30.
14. Sidransky E, Nalls MA, Aasly JO, et al. Multicenter analysis of glucocerebrosidase mutations in Parkinson's disease. N Engl J Med. 2009;361(17):1651-1661.
15. Ross OA, Braithwaite AT, Skipper LM, et al. Genomic investigation of alpha-synuclein multiplication and parkinsonism. Ann Neurol. 2008;63(6):743-750. (Pubitemid 351945533)
16. Ibáñez P, Lesage S, Janin S, et al French Parkinson's Disease Genetics Study Group. Alpha-synuclein gene rearrangements in dominantly inherited parkinsonism: frequency, phenotype, and mechanisms. Arch Neurol. 2009;66(1):102-108.
17. Buervenich S, Carmine A, Galter D, et al. A rare truncating mutation in ADH1C (G78Stop) shows significant association with Parkinson disease in a large international sample. Arch Neurol. 2005;62(1):74-78. (Pubitemid 40105038)
18. Jeziorowska A, Ciesla W, Houck GE Jr, et al. Cytogenetic and molecular identification of a de novo direct duplication of the long arm of chromosome 4(q21.3->q31.3). Am J Med Genet. 1993;46(1):83-87. (Pubitemid 23103903)
19. Navarro EG, Romero MC, Expósito IL, et al. De novo interstitial tandem duplication of chromosome 4(q21-q28). Am J Med Genet. 1996;62(3):297-299.