PINK1 mutations are associated with sporadic early-onset Parkinsonism

Annals of Neurology

Volumn 56, Issue 3, 2004, Pages 336-341

  Valente, Enza Maria ^a,e   Salvi, Sergio ^a   Ialongo, Tamara ^b   Marongiu, Roberta ^a   Elia, Antonio Emanuele ^b   Caputo, Viviana ^a,c   Romito, Luigi ^d   Albanese, Alberto ^b,d   Dallapiccola, Bruno ^a,c   Bentivoglio, Anna Rita ^b  

^a Mendel Institute   (Italy)

^b CATHOLIC UNIVERSITY   (Italy)

^c SAPIENZA UNIVERSITY OF ROME   (Italy)

^d DEPARTMENT OF NEUROSURGERY   (Italy)

^e Mendel Institute   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; ARTICLE; CONSANGUINEOUS MARRIAGE; CONTROLLED STUDY; EVALUATION; FEMALE; GENE; GENE LOCUS; GENE MUTATION; GENETIC ASSOCIATION; GENOTYPE; HAPLOTYPE; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; ONSET AGE; PARKINSON DISEASE; PATHOGENESIS; PHENOTYPE; PINK1 GENE; POSITRON EMISSION TOMOGRAPHY; PRIORITY JOURNAL; STRIATONIGRAL DEGENERATION;

ADULT; AGE OF ONSET; AGED; FEMALE; GENE DOSAGE; HUMANS; MALE; MIDDLE AGED; MUTATION; PARKINSONIAN DISORDERS; POLYMORPHISM, GENETIC; PROTEIN KINASES;

EID: 4444274910     PISSN: 03645134     EISSN: None     Source Type: Journal    
DOI: 10.1002/ana.20256     Document Type: Article

References (24)

1. Dekker MCJ, Bonifati V, van Duijn CM. Parkinson's disease: piecing together a genetic jigsaw. Brain 2003;126:1722-1733.
2. Quinn NP, Critchley P, Marsden CD. Young onset Parkinson's disease. Mov Disord 1987;2:73-91.
3. Lücking CB, Dürr A, Bonifati V, et al. Association between early-onset Parkinson's disease and mutations in the Parkin gene. N Engl J Med 2000;342:1560-1567.
4. 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
5. West A, Periquet M, Lincon S, et al. Complex relationship between Parkin mutations and Parkinson disease. Am J Med Genet (Neuropsychiatric Genet) 2002;114:584-591.
6. 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.
7. 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.
8. Periquet M, Latouche M, Lohmann E, et al. Parkin mutations are frequent in patients with isolated early-onset parkinsonism. Brain 2003;126:1271-1278.
9. Lohmann E, Periquet M, Bonifati V, et al. How much phenotypic variation can be attributed to parkin genotype? Ann Neurol 2003;54:176-185.
10. 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.
11. Abou-Sleiman PM, Healy DG, Quinn N, et al. The role of pathogenic DJ-1 mutations in Parkinson's disease. Ann Neurol 2003;54:283-286.
12. Hague S, Rogaeva E, Hernandez D, et al. Early-onset Parkinson's disease caused by a compound heterozygous DJ-1 mutation. Ann Neurol 2003;54:271-274.
13. Ibáňez P, De Michele G, Bonifati V, et al. Screening for DJ-1 mutations in early onset autosomal recessive parkinsonism. Neurology 2003;61:1429-1431.
14. 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.
15. Lockhart PJ, Lincon S, Hulihan M, et al. DJ-1 mutations are a rare cause of recessively inherited early onset parkinsonism mediated by loss of protein function. J Med Genet 2004;41:e22.
16. 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,
17. Bentivoglio AR, Cortelli P, Valente EM, et al. Phenotypic characterisation of autosomal recessive PARK6-linked parkinsonism in three unrelated Italian families. Mov Disord 2001;16: 999-1006.
18. Gelb DJ, Oliver E, Gilman S. Diagnostic criteria for Parkinson disease. Arch Neurol 1999;56:33-39.
19. Heid CA, Stevens J, Livak K, Williams PM. Real time quantitative PCR. Genome Res 1996;6:986-994.
20. Aarskog NK, Vedeler CA. Real-time quantitative polymerase chain reaction. A novel method that detects both the peripheral myelin protein 22 duplication in Charcot-Marie-Tooth type 1A disease and the peripheral myelin protein 22 deletion in hereditary neuropathy with liability to pressure palsies. Hum Genet 2000;107:494-498.
21. Hilker R, Klein C, Heidrich K, et al. The striatal dopaminergic deficit is dependent on the number of mutant alleles in a family with mutations in the parkin gene: evidence for enzymatic parkin function un humans. Neurosci Lett 2002;323:50-54.
22. 18F]dopa PET and clinical study. Brain 2002;125:2248-2256.
23. 18F-dopa PET study. Ann Neurol 2002;52:849-853.
24. Hatano Y, Li Y, Sato K, et al. Novel PINK1 mutations in early-onset parkinsonism. Ann Neurol 2004;56:424-427.