PINK1, Parkin, and DJ-1 mutations in Italian patients with early-onset parkinsonism

European Journal of Human Genetics

Volumn 13, Issue 9, 2005, Pages 1086-1093

  Klein, Christine ^a   Djarmati, Ana ^a,b   Hedrich, Katja ^a   Schäfer, Nora ^a   Scaglione, Gesa ^c   Marchese, Roberta ^d   Kock, Norman ^a   Schüle, Birgitt ^a   Hiller, Anja ^a   Lohnau, Thora ^a   Winkler, Susen ^a   Wiegers, Karin ^a   Hering, Robert ^e   Bauer, Peter ^e   Riess, Olaf ^e   Abbruzzese, Giovanni ^d   Martinelli, Paolo ^c   Pramstaller, Peter P ^f,g  

^a UNIVERSITY OF LÜBECK   (Germany)

^b UNIVERSITY OF BELGRADE   (Serbia)

^c UNIVERSITY OF BOLOGNA   (Italy)

^d UNIVERSITY OF GENOA   (Italy)

^e UNIVERSITY OF TÜBINGEN   (Germany)

^f General Regional Hospital   (Serbia)

^g INSTITUTE FOR RENEWABLE ENERGY   (Italy)

Author keywords

DJ 1; Early onset parkinsonism; Italian EOP patients; Parkin; PINK1; Real time PCR

Indexed keywords

CELL PROTEIN; DJ 1 PROTEIN; PARKIN; PROTEIN PINK1; UNCLASSIFIED DRUG;

ADULT; ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; EXON; FAMILY HISTORY; FEMALE; GENE DOSAGE; GENE MUTATION; GENE SEQUENCE; GENETIC POLYMORPHISM; HUMAN; ITALY; MAJOR CLINICAL STUDY; MALE; MUTATIONAL ANALYSIS; PARKINSONISM; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; TREMOR; GENE DELETION; GENETIC HETEROGENEITY; GENETICS; HAPLOTYPE; MIDDLE AGED; MUTATION; NUCLEOTIDE SEQUENCE; ONSET AGE; PARKINSON DISEASE; POINT MUTATION; PREVALENCE;

ADULT; AGE OF ONSET; DNA MUTATIONAL ANALYSIS; EXONS; FEMALE; GENETIC HETEROGENEITY; HAPLOTYPES; HUMANS; ITALY; MALE; MIDDLE AGED; MUTATION; PARKINSON DISEASE; POINT MUTATION; POLYMERASE CHAIN REACTION; POLYMORPHISM, GENETIC; PREVALENCE; SEQUENCE DELETION;

EID: 27244432742     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/sj.ejhg.5201455     Document Type: Article

References (38)

1. Kitada T, Asakawa S, Hattori N et al: Mutations in the Parkin gene cause autosomal recessive juvenile parkinsonism. Nature 1998; 392: 605-608.
2. 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.
3. Bonifati V, Rizzu P, van Baren MJ et al: Mutation in DJ-1 gene associated with autosomal recessive early-onset parkinsonism. Science 2003; 299: 256-259.
4. Shen J, Cookson MR: Mitochondria and dopamine; new insights into recessive parkinsonism. Neuron 2004; 43: 301-304.
5. Lucking CB, Dürr A, Bonifati V et al: Association between early-onset Parkinson disease and mutations in the Parkin gene. N Engl J Med 2000; 342: 1560-1567.
6. 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.
7. Hedrich K, Djarmati A, Schäfer N et al: DJ-1 (PARK7) mutations are less frequent than Parkin (PARK2) mutations in early-onset Parkinson disease. Neurology 2004; 62: 389-394.
8. Djarmati A, Hedrich K, Svetel M et al: Detection of Parkin (PARK2) and DJ1 (PARK7) mutations in early-onset Parkinson disease: Parkin mutation frequency depends on ethnic origin of patients. Hum Mutat 2004; 23: 525.
9. Hering R, Strauss KM, Tao X et al: Novel homozygous p.E64D mutation in DJ1 in early onset Parkinson disease (PARK 7). Hum Mutat 2004; 24: 321-329.
10. Valente EM, Salvi S, Ialongo T et al: PINK1 mutations are associated with sporadic early-onset parkinsonism. Ann Neurol 2004; 56: 336-341.
11. Hatano Y, Li Y, Sato K et al: Novel PINK1 mutations in early-onset parkinsonism. Ann Neurol 2004; 56: 424-427.
12. Rohe CF, Montagna P, Breedveld G, Cortelli P, Oostra BA, Bonifati V: Homozygous PINK1 C-terminus mutation causing early-onset parkinsonism. Ann Neurol 2004; 56: 427-431.
13. Healy DG, Abou-Sleiman PM, Gibson JM et al: PINK1 (PARK6) associated Parkinson disease in Ireland. Neurology 2004; 63: 1486-1488.
14. Rogaeva E, Johnson J, Lang AE et al: Analysis of the PINK1 gene in a large cohort of cases with Parkinson disease. Arch Neurol 2004; 61: 1898-1904.
15. Hague S, Rogaeva E, Hernandez D et al: Early-onset Parkinson disease caused by a compound heterozygous DJ-1 mutation. Ann Neurol 2003; 54: 271-274.
16. Abou-Sleiman PM, Healy DG, Quinn N, Lees AJ, Wood NW: The role of pathogenic DJ-1 mutations in Parkinson disease. Ann Neurol 2003; 54: 283-286.
17. Hattori N, Kitada T, Matsumine H et al: Molecular genetic analysis of a novel Parkin gene in Japanese families with autosomal recessive juvenile parkinsonism: evidence for variable homozygous deletions in the Parkin gene in affected individuals. Ann Neurol 1998; 44: 935-941.
18. Chen R, Gosavi NS, Langston JW, Chan P: Parkin mutations are rare in patients with young-onset parkinsonism in a US population. Parkinsonism Relat Disord 2003; 9: 309-312.
19. Klein C, Hedrich K, Wellenbrock C et al: Frequency of Parkin mutations in late-onset Parkinson's disease. Ann Neurol 2003; 54: 415-416.
20. Gibb WR, Less AJ: A comparison of clinical and pathological features of young- and old-onset Parkinson's disease. Neurology 1988; 38: 1402-1406.
21. Fahn S, Elton RL, Members of the UPDRS Development Committee: 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 Health-care Information, 1987, pp 153-163, 293-304.
22. Folstein MF, Folstein SE, McHugh PR: 'Mini-mental state'. A practical method for grading the cognitive state of patients for the clinician. J Psychiatr Res 1975; 12: 189-198.
23. Hoehn MM, Yahr MD: Parkinsonism: onset, progression, and mortality. Neurology 1967; 17: 427-442.
24. Hedrich K, Eskelson C, Wilmot B et al: Distribution of Parkin mutations: review and case studies. Mov Disord 2004; 19: 1146-1157.
25. Ozelius LJ, Hawett JW, Page CE et al: The early-onset torsion dystonia gene (DYT1) encodes an ATP-binding protein. Nat Genet 1997; 17: 40-48.
26. 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.
27. Hedrich K, Marder K, Harris J et al: Evaluation of 50 probands with early-onset Parkinson's disease for Parkin mutations. Neurology 2002; 58: 1239-1246.
28. 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.
29. West A, Periquet M, Lincoln S et al: Complex relationship between Parkin mutations and Parkinson disease. Am J Med Genet 2002; 114: 584-591.
30. Clark LN, Afridi S, Mejia-Santana H et al: Analysis of an early-onset Parkinson's disease cohort for DJ-1 mutations. Mov Disord 2004; 19: 796-800.
31. Singleton A: What does PINK1 mean for Parkinson diseases? Neurology 2004; 63: 1350-1351.
32. 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.
33. Scherfler C, Khan NL, Pavese N et al: Striatal and cortical pre- and postsynaptic dopaminergic dysfunction in sporadic Parkin-linked parkinsonism. Brain 2004; 127: 1132-1142.
34. Walter U, Klein C, Hilker R, Benecke R, Pramstaller PP, Dressier D: Brain parenchyma sonography detects preclinical parkinsonism. Mov Disord 2004; 19: 1445-1449.
35. Khan NL, Valente EM, Bentivoglio AR et al: Clinical and subclinical dopaminergic dysfunction in PARK6-linked parkinsonism: an 18F-dopa PET study. Ann Neurol 2002; 52: 849-853.
36. 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.
37. Healy DG, Abou-Sleiman P, Ahmadi KR et al: The gene responsible for PARK6 Parkinson's disease, PINK1, does not influence common forms of parkinsonism. Ann Neurol 2004; 56: 329-335.
38. Kong A, Gudbjartsson DF, Sainz J et al: A high-resolution recombination map of the human genome. Nat Genet 2002; 31: 241-247.