Analysis of α-synuclein, parkin, tau, and UCH-L1 in a Japanese family with autosomal dominant parkinsonism

European Neurology

Volumn 46, Issue 1, 2001, Pages 20-24

  Hasegawa, K ^a   Funayama, M ^b   Matsuura, N ^b   Furusawa, H ^a   Sakai, F ^a   Kowa, H ^c   Obata, F ^c  

^a KITASATO UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^b KITASATO UNIVERSITY GRADUATE SCHOOL OF MEDICAL SCIENCES   (Japan)

^c KITASATO UNIVERSITY   (Japan)

Author keywords

Synuclein; Etiology; Familial parkinsonism; Mutation; Parkin; Tau; UCH L1

Indexed keywords

ALPHA SYNUCLEIN; DNA FRAGMENT; PARKIN; PROTEIN; PROTEIN UCH L1; TAU PROTEIN; UNCLASSIFIED DRUG;

ARTICLE; AUTOSOMAL DOMINANT DISORDER; CLINICAL FEATURE; CONTROLLED STUDY; DNA SEQUENCE; EXON; GENE AMPLIFICATION; GENE DELETION; GENE MUTATION; HUMAN; INTRON; JAPAN; ONSET AGE; PARKINSONISM; POINT MUTATION; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL;

ALPHA-SYNUCLEIN; EXONS; FEMALE; HUMANS; JAPAN; LIGASES; MALE; MUTATION; NERVE TISSUE PROTEINS; PARKINSONIAN DISORDERS; PEDIGREE; POLYMERASE CHAIN REACTION; SYNUCLEINS; TAU PROTEINS; THIOLESTER HYDROLASES; UBIQUITIN THIOLESTERASE; UBIQUITIN-PROTEIN LIGASES;

EID: 0034952990     PISSN: 00143022     EISSN: None     Source Type: Journal    
DOI: 10.1159/000050751     Document Type: Article

References (14)

1. Mutation in the alpha-synucleingene identified in families with Parkinson's disease
2. Ala30Pro mutation in the gene encoding alpha-synucleinin Parkinson's disease
3. Mutations in theparkin gene cause autosomal recessive juvenile parkinsonism
4. Point mutations (Thr240Arg and Gln311Stop) [correction of Thr240Arg and Ala311Stop] in the Parkin gene
5. A wide variety of mutations in the parkin gene are responsible for autosomal recessive parkinsonism in Europe: French Parkinson's Disease Genetics Study Group and the European Consortium on Genetic Susceptibility in Parkinon's Disease
6. Association of missense and 5′-splice-site mutations intauwith the inherited dementia FTDP-17
7. Tau is a candidate gene for chromosome 17 frontotemporal dementia
8. Mutation in thetau gene in familial multiple system tauopathy with presenile dementia
9. The ubiquitin pathway in Parkinson's disease
10. A susceptibility locus for Parkinson's disease maps to chromosome 2p13
11. The G209A mutation in the alpha-synuclein gene is not detected in familial cases of Parkinson disease in non-Greek and/or Italian populations
12. Genetics of Parkinson's disease
13. A big family paralysis agitans
14. Autosomal dominant familial Parkinson disease: Older onset of age, and good response to levodopa therapy