Parkin mutations and early-onset parkinsonism in a Taiwanese cohort

Archives of Neurology

Volumn 62, Issue 1, 2005, Pages 82-87

  Wu, Ruey Meei ^a,b,c,d   Bounds, Rebecca ^a,b,c,d   Lincoln, Sarah ^a,b,c,d   Hulihan, Mary ^a,b,c,d   Lin, Chin Hsien ^a,b,c,d   Hwu, Wuh Liang ^a,b,c,d   Chen, Judy ^a,b,c,d   Gwinn Hardy, Katrina ^a,b,c,d   Farrer, Matt ^a,b,c,d  

^a NATIONAL TAIWAN UNIVERSITY HOSPITAL   (Taiwan)

^b UNIVERSITY OF CALIFORNIA   (United States)

^c NATIONAL INSTITUTE OF NEUROLOGICAL DISORDERS AND STROKE   (United States)

^d MAYO GRADUATE SCHOOL   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

AMANTADINE; BENSERAZIDE; BIPERIDEN; CARBIDOPA; GENOMIC DNA; LEVODOPA; PARKIN; ROPINIROLE; SELEGILINE;

ADULT; ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; CLINICAL ARTICLE; CLINICAL FEATURE; COHORT ANALYSIS; DNA SEQUENCE; DYSTONIA; FEMALE; GAIT DISORDER; GENE EXPRESSION; GENE MUTATION; GENOTYPE PHENOTYPE CORRELATION; HUMAN; LYMPHOBLASTOID CELL LINE; MALE; MEDICAL ASSESSMENT; NEUROLOGIC EXAMINATION; ONSET AGE; PARKINSON DISEASE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PSYCHOLOGIC ASSESSMENT; TAIWAN;

ADULT; ARGININE; COHORT STUDIES; DNA MUTATIONAL ANALYSIS; EXONS; FAMILY HEALTH; FEMALE; GLYCINE; HUMANS; MALE; MIDDLE AGED; MUTATION; NEUROLOGIC EXAMINATION; PARKINSONIAN DISORDERS; PEDIGREE; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; RNA, MESSENGER; TAIWAN; UBIQUITIN-PROTEIN LIGASES;

EID: 12144254582     PISSN: 00039942     EISSN: None     Source Type: Journal    
DOI: 10.1001/archneur.62.1.82     Document Type: Article

References (27)

1. Mata IF, Lockhart PJ, Farrer MJ. Parkin genetics: one model for Parkinson's disease. Hum Mol Genet. 2004;13:R127-R133.
2. Periquet M, Lucking C, Vaughan J, et al. Origin of the mutations in the parkin gene in Europe: exon rearrangements are independent recurrent events, whereas point mutations may result from Founder effects. Am J Hum Genet, 2001;68:617-626.
3. Lincoln S, Wiley J, Lynch T, et al. Parkin proven disease: common founders but divergent phenotypes. Neurology. 2003;60:1605-1610.
4. Shigeru T, Li P, Faure D, et al. Austronesian Taiwan. Taipei, Taiwan: SMC Publishing Inc; 2002.
5. Gelb DJ, Oliver E, Gilman S. Diagnostic criteria for Parkinson disease. Arch Neurol. 1999;56:33-39.
6. Fahn S; Members of the UPDRS Development Committee. Elton RL Unified Parkinson's Disease Rating Scale. In: Fahn S, Marsden CD, Calne DB, Goldstein M, eds. Recent Developments in Parkinson's Disease, Vol 2. Florham Park, NJ: Macmillan Healthcare Information; 1987:153-163.
7. 18F-dopa PET, and genetic analysis of an ethnic Chinese kindred with early-onset parkinsonism and parkin gene mutations. Mov Disord. 2002;17:670-675.
8. Schrag A, Ben-Shlomo Y, Brown R, et al. Young-onset Parkinson's disease revisited: clinical features, natural history, and mortality. Mov Disord. 1998;13:885-894.
9. Kann M, Jacobs H, Mohrmann K, et al. Role of parkin mutations in 111 community-based patients with early-onset parkinsonism. Ann Neurol. 2002;51:621-625.
10. Wang T, Liang Z, Sun S, et al. A novel point mutation in parkin gene was identified in an early-onset case of Parkinson's disease. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2003;20:111-113.
11. Peng R, Gou Y, Yuan Q, et al. Mutation screening and association analysis of the parkin gene in Parkinson's disease patients from South-West China. Eur Neurol. 2003;49:85-89.
12. Khan NL, Graham E, Critchley P, et al. Parkin disease: a phenotypic study of a large case series. Brain. 2003;126:1279-1292.
13. Leentjens AF, Van Den Akker M, Metsemakers JF, et al. Higher incidence of depression preceding the onset of Parkinson's disease: a register study. Mov Disord. 2003;18:414-418.
14. Farrer M, Chan P, Chen R, et al. Lewy bodies and parkinsonism in families with parkin mutations. Ann Neurol. 2001;50:293-300.
15. van de Warrenburg BP, Lammens M, Lucking CB, et al. Clinical and pathologic abnormalities in a family with parkinsonism and parkin gene mutations. Neurology. 2001;56:555-557.
16. Morales B, Martinez A, Gonzalo I, et al. Steele-Richardson-Olszewski syndrome in a patient with a single C212Y mutation in the parkin protein. Mov Disord. 2002;17:1374-1380.
17. Matsumine H. A loss-of-function mechanism of nigral neuron death without Lewy body formation: autosomal recessive juvenile parkinsonism (AR-JP). J Neurol. 1998;245:10-14.
18. Mori H, Kondo T, Yokochi M, et al. Pathologic and biochemical studies of juvenile parkinsonism linked to chromosome 6q. Neurology. 1998;51:890-892.
19. Cookson MR, Lockhart PJ, McLendon C, et al. RING finger 1 mutations in Parkin produce altered localization of the protein. Hum Mol Genet. 2003;12:2957-2965.
20. Lohmann E, Periquet M, Bonifati V, et al. How much phenotypic variation can be attributed to parkin genotype? Ann Neurol. 2003;54:176-185.
21. Sakata E, Yamaguchi Y, Kurimoto E, et al. Parkin binds the Rpn10 subunit of 26S proteasomes through its ubiquitin-like domain. EMBO Rep. 2003;4:301-306.
22. Satoh J, Kuroda Y. Association of codon 167 Ser/Asn heterozygosity in the parkin gene with sporadic Parkinson's disease. Neuroreport. 1999;10:2735-2739.
23. Wang M, Hattori N, Matsumine H, et al. Polymorphism in the parkin gene in sporadic Parkinson's disease. Ann Neurol. 1999;45:655-658.
24. Hu CJ, Sung SM, Liu HC, et al. Polymorphisms of the parkin gene in sporadic Parkinson's disease among Chinese in Taiwan. Eur Neurol. 2000;44:90-93.
25. Tanner CM. Is the cause of Parkinson's disease environmental or hereditary? evidence from twin studies. Adv Neurol. 2003;91:133-142.
26. Chen RC, Chang SF, Su CL, et al. Prevalence, incidence, and mortality of PD: a door-to-door survey in Ilan county, Taiwan. Neurology. 2001;57:1679-1686.
27. Lucking CB, Durr A, Bonifati V, et al; French Parkinson's Disease Genetics Study Group. Association between early-onset Parkinson's disease and mutations in the parkin gene. N Engl J Med. 2000;342:1560-1567.