Association between early-onset Parkinson's disease and mutations in the parkin gene

New England Journal of Medicine

Volumn 342, Issue 21, 2000, Pages 1560-1567

  Lücking, Christoph B ^a   Dürr, Alexandra ^a   Bonifati, Vincenzo ^b   Vaughan, Jenny ^c   De Michele, Giuseppe ^d   Gasser, Thomas ^e   Harhangi, Biswadjiet S ^f   Meco, Giuseppe ^b   Denèfle, Patrice ^g   Wood, Nicholas W ^c   Agid, Yves ^a   Brice, Alexis ^a   Nicholl, D ^h   Breteler, M M B ^f   Oostra, B A ⁱ   De Mari, M ^j   Marconi, R ^k   Filla, A ^d   Bonnet, A M ^a   Broussolle, E ^l   Pollak, P ^m   Rascol, O ⁿ   Rosier, M ^o   Arnould, I ^o   more..

^a PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^b SAPIENZA UNIVERSITY OF ROME   (Italy)

^c UNIVERSITY COLLEGE LONDON   (United Kingdom)

^d UNIVERSITY OF NAPLES FEDERICO II   (Italy)

^e LUDWIG MAXIMILIANS UNIVERSITY   (Germany)

^f ERASMUS MEDICAL CENTER   (Netherlands)

^g Evry Genomics Center   (France)

^h UNIVERSITY OF BIRMINGHAM   (United Kingdom)

ⁱ ERASMUS UNIVERSITY ROTTERDAM   (Netherlands)

^j UNIVERSITY OF BARI   (Italy)

^k MISERICORDIA HOSPITAL   (Italy)

^l HÔPITAL NEUROLOGIQUE   (France)

^m GRENOBLE UNIVERSITY HOSPITAL   (France)

ⁿ INSERM   (France)

^o SANOFI   (France)

more..

Author keywords

[No Author keywords available]

Indexed keywords

BRAIN PROTEIN;

ADOLESCENT; ADULT; AGED; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CHILD; DIAGNOSTIC ACCURACY; DISEASE ASSOCIATION; EARLY DIAGNOSIS; FEMALE; GENE ISOLATION; GENE MUTATION; GENE SEQUENCE; HUMAN; HUMAN CELL; HUMAN TISSUE; MAJOR CLINICAL STUDY; MALE; NUCLEOTIDE SEQUENCE; ONSET AGE; PARKINSON DISEASE; PRIORITY JOURNAL;

EID: 0342368772     PISSN: 00284793     EISSN: None     Source Type: Journal    
DOI: 10.1056/NEJM200005253422103     Document Type: Article

References (22)

1. de Rijk MC, Tzourio C, Breteler MME, et al. Prevalence of parkinsonism and Parkinson's disease in Europe: the EUROPARKJNSON Collaborative Study: European community concerted action on the epidemiology of Parkinson's disease. J Neurol Neurosurg Psychiatry 1997;62:10-5.
2. Fearnley JM, Lees AJ. Ageing and Parkinson's disease: substantia nigra regional selectivity. Brain 1991;114:2283-301.
3. Wood N. Genes and parkinsonism. J Neurol Neurosurg Psychiatry 1997;62:305-9.
4. Piccini P, Bum DJ, Ceravolo R, Maraganore D, Brooks DJ. The role of inheritance in sporadic Parkinson's disease: evidence from a longitudinal study of dopaminergic function in twins. Ann Neurol 1999;45:577-82.
5. Polymeropoulos MH, Lavedan C, Leroy E, et al. Mutation in the alpha-synuclein gene identified in families with Parkinson's disease. Science 1997;276:2045-7.
6. Leroy E, Boyer R, Auburger G, et al. The ubiquitin pathway in Parkinson's disease. Nature 1998;395:451-2.
7. Gasser T, Müller-Myhsok B, Wszolek ZK, et al. A susceptibility locus for Parkinson's disease maps to chromosome 2p13. Nat Genet 1998;18: 262-5.
8. Farrer M, Gwinn-Hardy K, Muenter M, et al. A chromosome 4p haplotype segregating with Parkinson's disease and postural tremor. Hum Mol Genet 1999;8:81-5.
9. Kitada T, Asakawa S, Hattori N, et al. Mutations in the parkin gene cause autosomal recessive juvenile parkinsonism. Nature 1998;392:605-8.
10. Hattori N, Matsumine H, Asakawa S, et al. Point mutations (Thr240Arg and Ala311Stop) in the parkin gene. Biochem Biophys Res Commun 1998;249:754-8. [Erratum, Biochem Biophys Res Commun 1998;251:666.]
11. 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;44:935-41.
12. Leroy E, Anastasopoulos D, Konitsiotis S, Lavedan C, Polymeropoulos MH. Deletions in the parkin gene and genetic heterogeneity in a Greek family with early onset Parkinson's disease. Hum Genet 1998;103: 424-7.
13. Lücking CB, Abbas N, Dürr A, et al. Homozygous deletions in parkin gene in European and North African families with autosomal recessive juvenile parkinsonism. Lancet 1998;352:1355-6.
14. Abbas N, Lucking CB, Ricard S, et al. A wide variety of mutations in the parkin gene arc responsible for autosomal recessive parkinsonism in Europe. Hum Mol Genet 1999;8:567-74.
15. Takahashi H, Ohama E, Suzuki S, et al. Familial juvenile parkinsonism: clinical and pathologic study in a family. Neurology 1994;44:437-41.
16. Mori H, Kondo T, Yokochi M, et al. Pathologic and biochemical studies of juvenile parkinsonism linked to chromosome 6q. Neurology 1998; 51:890-2.
17. Fahn S, Elton RL, UPDRS Development Committee. Unified Parkinson's Disease Rating Scale. In: Fahn S, Marsden CD, Goldstein M, Calne DB, eds. Recent developments in Parkinson's disease. Vol. 2. Florham Park, N.J.: Macmillan Healthcare Information, 1987:153-63.
18. Hoehn MM, Yahr MD. Parkinsonism: onset, progression and mortality. Neurology 1967;17:427-42.
19. Morett E, Bork P. A novel transactivation domain in parkin. Trends Biochem Sci 1999;24:229-31.
20. Gu W-J, Abbas N, Lagune-Zarate M, et al. Cloning of rat parkin cDNA and distribution of parkin in rat brain. J Neurochem 2000;74:1773-6.
21. Ishikawa A, Tsuji S. Clinical analysis of 17 patients in 12 Japanese families with autosomal-recessive type juvenile parkinsonism. Neurology 1996; 47:160-6.
22. Bross P, Corydon TJ, Andresen BS, Jorgensen MM, Bolund L, Gregersen N. Protein misfolding and degradation in genetic diseases. Hum Mutat 1999;14:186-98.