Analysis of the parkin deletion in sporadic and familial Parkinson's disease

Journal of Neural Transmission

Volumn 106, Issue 2, 1999, Pages 159-163

  Kruger R ^a   Vieira Sacker A M M ^a   Kuhn, W ^a   Muller T ^a   Woitalla, D ^a   Schols L ^a   Przuntek, H ^a   Epplen, J T ^a   Riess, O ^a  

^a RUHR UNIVERSITY BOCHUM   (Germany)

Author keywords

Early onset parkinsonism; PARK 2; Parkin; Parkinson's disease

Indexed keywords

ADULT; ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; CAUCASIAN; CONTROLLED STUDY; EXON; GENE DELETION; GENE MUTATION; HUMAN; MAJOR CLINICAL STUDY; PARKINSON DISEASE; PRIORITY JOURNAL;

ADULT; AGE OF ONSET; DNA MUTATIONAL ANALYSIS; EXONS; GENES, RECESSIVE; GERMANY; HOMOZYGOTE; HUMANS; LIGASES; MIDDLE AGED; PARKINSON DISEASE; POLYMERASE CHAIN REACTION; PROTEINS; SEQUENCE DELETION; UBIQUITIN-PROTEIN LIGASES;

EID: 0033024808     PISSN: 03009564     EISSN: None     Source Type: Journal    
DOI: 10.1007/s007020050148     Document Type: Article

References (14)

1. Gasser T, Muller-Myhsok B, Wszolck ZK, Oehlmann R, Calne DB, Bonifati V, Bereznai B, Fabrizio E, Vieregge P, Horstmann RD (1998) A susceptibility locus for Parkinson's disease maps to chromosome 2p13. Nat Genet 18: 262-265
2. Hattori N, Matsumine H, Asakawa S, Kitada T, Yoshino H, Elibol B, Brookes AJ, Yamamura Y, Kobayashi T, Wang M, Yoritaka A, Minoshima S, Shimizu N, Mizuno Y (1998) Point mutations (Thr240Arg and Gln311Stop) in the parkin gene. Biochem Biophys Res Comun 249: 754-758
3. Hughes AJ, Daniel SE, Kilford L, Lees AJ (1992) Accuracy of clinical diagnosis of idiopathic Parkinson's disease: a clinicopathologic study of 100 cases. J Neurol Neurosurg Psychiatry 55: 181-184
4. Ishikawa A, Tsuji S (1996) Clinical analysis of 17 patients in 12 Japanese families with autosomal-recessive type juvenile parkinsonism. Neurology 47: 160-166
5. Jones AC, Yamamura Y, Almasy L, Bohlega S, Elibol B, Hubble J, Kuzuhara S, Uchida M. Yanagi T, Weeks DE, Nygaard TG (1998) Autosomal recessive juvenile parkinsonism maps to 6q25.2-q27 in four ethnic groups: detailed genetic mapping of the linked region. Am J Hum Genet 63: 80-87
6. Kitada T, Asakawa S, Hattori N, Matsumine H, Yamamura Y, Minoshima S, Yokochi M, Mizuno Y, Shimizu N (1998) Mutations in the parkin gene cause autosomal recessive juvenile parkinsonism. Nature 392: 605-608
7. Krüger R, Kuhn W, Müller Th, Woitalla D, Graeber M, Kösel S, Przuntek H. Epplen JT, Schöls L, Riess O (1998) Ala30Pro mutation in the gene encoding α-synuclein in Parkinson's disease. Nat Genet 18: 106-108
8. Matsumine H, Saito M, Shimoda-Matsubayashi S, Tanaka H, Ishikawa A, Nakagawa-Hattori Y, Yokochi M. Kobayashi T, Igarashi S, Takano H, Sanpei K, Koike R, Mori H, Kondo T, Mizutani Y, Schäffer AA, Yamamura Y. Nakamura S, Kuzuhara S, Tsuji S, Mizuno Y (1997) Localization of a gene for an autosomal recessive form of juvenile parkinsonism to chromosome 6q25.2-27. Am J Hum Genet 60: 588-596
9. Mizutani Y, Yokochi M, Oyanagi S (1991) Juvenile parkinsonism: a case with first clinical manifestation at the age of six years and with neuropathological findings suggesting a new pathogenesis. Clin Neuropathol 10: 91-97
10. Polymeropoulos MH, Laavedan C, Leroy E, Ide SE, Dehejia A, Dutra A, Pike B, Root H, Rubenstein J, Boyer R, Stenroos ES, Chandrasekharappa S, Athanassiadou A, Papapetropoulos T, Johnson WG, Lazzarini AM, Duvoisin RC, Di Iorio G, Golbe LI, Nussbaum RL (1997) Mutation in the α-synuclein gene identified in families with Parkinson's disease. Science 276: 2045-2047
11. Takahashi H. Ohama E, Suzuki S, Horikawa Y, Ishikawa A, Morita T, Tsuji S, Ikuta F (1994) Familial juvenile parkinsonism: clinical and pathologic study in a family. Neurology 44: 437-441
12. Tassin J, Dürr A, de Broucker T, Abbas N, Bonifati V, de Michele G, Bonnet AM, Broussolle E, Pollak P, Vidailhet M, de Mari M, Marconi R, Medjbeur S, Filla A, Meco G, Agid Y, Brice A, The French Parkinson's Disease Genetic Study Group. The European Consortium on Genetic Susceptibility in Parkinson's Disease (1998) Chromosome 6-linked autosomal recessive early-onset parkinsonism: linkage in european and algerian families, extension of the clinical spectrum, and evidence of a small homozygous deletion in one family. Am J Hum Genet 63: 88-94
13. Yamamura Y, Kohriyama T, Kaseda Y, Kawadami H, Katayama S, Yanagi T, Uchida M (1996) Clinical manifestations of autosomal recessive early-onset parkinsonism with diurnal fluctuation. In: Ohye C, Kumura M, McKenzie JS (eds) Advances in behavioral biology, vol 47. The basal ganglia, part 5. Plenum Press, New York, pp 485-489
14. Yokochi M, Narabayashi H, Iizuka R, Nagatsu T (1984) Juvenile parkinsonism-some clinical, pharmacological and neuropathological aspects. Adv Neurol 40: 407-413