Mutated α-synuclein gene in two greek kindreds with familial pd: Incomplete penetrance?

Neurology

Volumn 52, Issue 3, 1999, Pages 651-654

  Papadimitriou, Alexandros ^a,b,e   Veletza, V ^c   Hadjigeorgiou, G M ^b,d   Patrikiou, A ^b   Hirano, M ^d   Anastasopoulos, I ^b  

^a UNIVERSITY OF THESSALY   (Greece)

^b RED CROSS HOSPITAL   (Greece)

^c Hellenic Red Cross   (Greece)

^d Columbia University ^*  (United States)

^e NONE   (Greece)

Author keywords

[No Author keywords available]

Indexed keywords

ALPHA SYNUCLEIN;

ADULT; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CLINICAL ARTICLE; FAMILIAL DISEASE; FEMALE; GENE MUTATION; GREECE; HETEROZYGOTE; HUMAN; ITALY; MALE; ONSET AGE; PARKINSON DISEASE; PENETRANCE; PRIORITY JOURNAL;

EID: 0033022357     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/wnl.52.3.651     Document Type: Article

References (10)

1. Lazzarini AM, Myers RH, Zimmerman TR, et al. A clinical genetic study of Parkinson's disease: evidence for dominant transmission. Neurology 1994;44:499-506.
2. Polymeropoulos MH, Lavedan C, Leroy E, et al. Mutation in the α-synuclein gene identified in families with Parkinson's disease. Science 1997;276:2045-2047.
3. Krüger R, Kuhn W, Müller T, et al. Ala30Pro mutation in the gene encoding α-synuclein in Parkinson's disease. Nat Genet 1998;18:106-108.
4. Vaughan JR, Farrer MJ, Wszolek ZK, et al. Sequencing of the α-synuclein gene in a large series of cases of familial Parkinson's disease fails to reveal any further mutations. Hum Mol Genet 1998;7:751-753.
5. Farrer M, Wavrant-De Vrieze F, Crook R, et al. Low frequency of α-synuclein mutations in familial Parkinson's disease. Ann Neurol 1998;43:394-397.
6. Chan P, Jiang X, Forno LS, Di Monte DA, Tanner CM, Langston JW. Absence of mutations in the coding region of theα-synuclein gene in pathologically proven Parkinson's disease. Neurology 1998;50:1136-1137.
7. Lynch T. Genetics of Parkinson's disease. Science 1997;278: 1212-1213.
8. Gasser T, Müller-Myhsok B, Wszolek ZK, et al. Genetic complexity and Parkinson's disease. Science 1997;277:387-389.
9. Spillantini MG, Schmidt ML, Lee VMY, Trojanowski JQ, Jakes R, Goedert M. α-synuclein in Lewy bodies. Nature 1997; 388:839-840.
10. Gasser T, Müller-Myhsok B, Wszolek ZK, et al. A susceptibility locus for Parkinson's disease maps to chromosome 2q13. Nat Genet 1998;18:262-265.