Familial Parkinsonism and early onset Parkinson's disease in a Brazilian movement disorders clinic: Phenotypic characterization and frequency of SNCA, PRKN, PINK1, and LRRK2 mutations

Movement Disorders

Volumn 24, Issue 5, 2009, Pages 662-666

  Camargos, Sarah Teixeira ^a   Dornas, Leonardo Oliveira ^a   Momeni, Parastoo ^b   Lees, Andrew ^c   Hardy, John ^c,d   Singleton, Andrew ^e   Cardoso, Francisco ^a,f  

^a FEDERAL UNIVERSITY OF MINAS GERAIS   (Brazil)

^b TEXAS TECH UNIVERSITY HEALTH SCIENCES CENTER SCHOOL OF MEDICINE   (United States)

^c UNIVERSITY COLLEGE LONDON   (United Kingdom)

^d UNIVERSITY COLLEGE LONDON   (United Kingdom)

^e NATIONAL INSTITUTES OF HEALTH   (United States)

^f NONE   (Brazil)

Author keywords

Brazil; LRRK2; PINK1; PRKN; SNCA

Indexed keywords

LEUCINE RICH REPEAT KINASE 2; NEUROPEPTIDE; PARKIN; PROTEIN PINK1; PROTEIN SNCA; UNCLASSIFIED DRUG; ALPHA SYNUCLEIN; AMINO ACID; LRRK2 PROTEIN, HUMAN; PROTEIN KINASE; PROTEIN SERINE THREONINE KINASE; PTEN INDUCED PUTATIVE KINASE; PTEN-INDUCED PUTATIVE KINASE; SNCA PROTEIN, HUMAN; UBIQUITIN PROTEIN LIGASE;

ADULT; ARTICLE; BRAZIL; CLINICAL ASSESSMENT; EXON; FAMILIAL DISEASE; FEMALE; GENE DELETION; GENE FREQUENCY; GENE IDENTIFICATION; GENE MUTATION; GENE SEQUENCE; GENETIC VARIABILITY; GENOTYPE; HETEROZYGOSITY; HUMAN; MAJOR CLINICAL STUDY; MALE; ONSET AGE; PARKINSON DISEASE; PARKINSONISM; PHENOTYPE; PRIORITY JOURNAL; AGED; GENETIC PREDISPOSITION; GENETICS; MIDDLE AGED; MOLECULAR GENETICS; MUTATION; NUCLEOTIDE SEQUENCE;

ADULT; AGE OF ONSET; AGED; ALPHA-SYNUCLEIN; AMINO ACIDS; BRAZIL; DNA MUTATIONAL ANALYSIS; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HUMANS; MALE; MIDDLE AGED; MOLECULAR SEQUENCE DATA; MUTATION; PARKINSON DISEASE; PARKINSONIAN DISORDERS; PHENOTYPE; PROTEIN KINASES; PROTEIN-SERINE-THREONINE KINASES; UBIQUITIN-PROTEIN LIGASES;

EID: 67651151297     PISSN: 08853185     EISSN: 15318257     Source Type: Journal    
DOI: 10.1002/mds.22365     Document Type: Article

References (33)

1. Rajput AH, Offord KP, Beard CM, Kurland LT. Epidemiology of parkinsonism: incidence, classification, and mortality. Ann Neurol 1984;16:278-282.
2. Quinn N, Critchley P, Marsden CD. Young onset Parkinson's disease. Mov Disord 1987;2:73-91.
3. Van Den Eeden SK, Tanner CM, Bernstein AL, et al. Incidence of Parkinson's disease: variation by age, gender, and race/ethnicity. Am J Epidemiol 2003;157:1015-1022.
4. Payami H, Zareparsi S, James D, Nutt J. Familial aggregation of Parkinson disease: a comparative study of early-onset and late-onset disease. Arch Neurol 2002;59:848-850.
5. Polymeropoulos MH, Lavedan C, Leroy E, et al. Mutation in the alpha-synuclein gene identified in families with Parkinson's disease. Science 1997;276:2045-2047.
6. Kitada T, Asakawa S, Hattori N, et al. Mutations in the parkin gene cause autosomal recessive juvenile parkinsonism. Nature 1998;392:605-608.
7. Bonifati V, Rizzu P, van Baren MJ, et al. Mutations in the DJ-1 gene associated with autosomal recessive early-onset parkinsonism. Science 2003;299:256-259.
8. Valente EM, Abou-Sleiman PM, Caputo V, et al. Hereditary early-onset Parkinson's disease caused by mutations in PINK1. Science 2004;304:1158-1160.
9. Paisan-Ruiz C, Jain S, Evans EW, et al. Cloning of the gene containing mutations that cause PARK8-linked Parkinson's disease. Neuron 2004;44:595-600.
10. Aharon-Peretz J, Rosenbaum H, Gershoni-Baruch R. Mutations in the glucocerebrosidase gene and Parkinson's disease in Ashkenazi Jews. N Engl J Med 2004;351:1972-1977.
11. Hardy J, Cai H, Cookson MR, Gwinn-Hardy K, Singleton A. Genetics of Parkinson's disease and parkinsonism. Ann Neurol 2006;60:389-398.
12. Daniel SE, Lees AJ. Parkinson's Disease Society Brain Bank, London: overview and research. J Neural Transm Suppl 1993;39:165-172.
13. Fahn S, Elton RL;for the UPDRS development Committee. Unified Parkinson disease rating scale. In: Fahn S, Marsden CD, Calne DB, editors. Recent developments in Parkinson's disease. Floral Park, NJ: Macmillan; 1987. p 293-304.
14. American Psychiatric Association. The diagnostic and statistical manual of mental disorders, 4th ed. Washington, DC: American Psychiatric Association; 2000. 943 p.
15. Hedrich K, Kann M, Lanthaler AJ, et al. The importance of gene dosage studies: mutational analysis of the parkin gene in early-onset parkinsonism. Hum Mol Genet 2001;10:1649-1656.
16. Johnson J, Hague SM, Hanson M, et al. SNCA multiplication is not a common cause of Parkinson disease or dementia with Lewy bodies. Neurology 2004;63:554-556.
17. Cardoso F, Camargos ST, Silva Junior GA. Etiology of parkinsonism in a Brazilian movement disorders clinic. Arq Neuropsiquiatr 1998;56:171-175.
18. Dekker MC, van Switen JC, Houwing-Duistermaat JJ, et al. A clinical-genetic study of Parkinson's disease in a genetically isolated community. J Neurol 2003;250:1056-1062.
19. Bower JH, Maraganore DM, McDonnell SK, Rocca WA. Incidence and distribution of parkinsonism in Olmsted County, Minnesota, 1976-1990. Neurology 1999;52:1214-1220.
20. Chung EJ, Ki CS, Lee WY, Kim IS, Kim JY. Clinical features and gene analysis in Korean patients with early-onset Parkinson disease. Arch Neurol 2006;63:1170-1174.
21. Klein C, Djarmati A, Hedrich K, et al. PINK1, Parkin, and DJ-1 mutations in Italian patients with early-onset parkinsonism. Eur J Hum Genet 2005;13:1086-1093.
22. Clark LN, Afridi S, Karlins E, et al. Case-control study of the parkin gene in early-onset Parkinson disease. Arch Neurol 2006; 63:548-552.
23. Periquet M, Latouche M, Lohmann E, et al. Parkin mutations are frequent in patients with isolated early-onset parkinsonism. Brain 2003;126:1271-1278.
24. 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.
25. Poorkaj P, Nutt JG, James D, et al. Parkin mutation analysis in clinic patients with early-onset Parkinson's disease. Am J Med Genet 2004;129:44-50.
26. Lincoln SJ, Maraganore DM, Lesnick TG, et al. Parkin variants in North American Parkinson's disease: cases and controls. Mov Disord 2003;18:1306-1311.
27. Kay DM, Moran D, Moses L, et al. Heterozygous parkin point mutations are as common in control subjects as in Parkinson's patients. Ann Neurol 2007;61:47-54.
28. Hedrich K, Hagenah J, Djarmati A, et al. Clinical spectrum of homozygous and heterozygous PINK1 mutations in a large German family with Parkinson disease: role of a single hit? Arch Neurol 2006;63:833-838.
29. Pramstaller PP, Schlossmacher MG, Jacques TS, et al. Lewy body Parkinson's disease in a large pedigree with 77 parkin mutation carriers. Ann Neurol 2005;58:411-422.
30. Hilker R, Klein C, Ghaemi M, et al. Positron emission tomographic analysis of the nigrostriatal dopaminergic system in familial parkinsonism associated with mutations in the parkin gene. Ann Neurol 2001;49:367-376.
31. Khan NL, Valente EM, Bentivoglio AR, et al. Clinical and subclinical dopaminergic dysfunction in PINK1-linked parkinsonism: an 18F-dopa PET study. Ann Neurol 2002;52:849-853.
32. Sun M, Latourelle JC, Wooten GF, et al. Influence of heterozygosity for parkin mutation on onset age in familial Parkinson disease: the GenePD study. Arch Neurol 2006;63:826-832.
33. Clark LN, Wang Y, Karlins E, et al. Frequency of LRRK2 mutations in early- and late-onset Parkinson disease. Neurology 2006; 67:1786-1791.