An apparently sporadic case with parkin gene mutation in a Korean woman

Archives of Neurology

Volumn 58, Issue 6, 2001, Pages 988-989

  Jeon, Beom S ^a,b   Kim, Jong Min ^a,b   Lee, Dong Soo ^a,b   Hattori, Nobutaka ^c   Mizuno, Yoshikuni ^c  

^a Seoul National University   (South Korea)

^b Seoul National University Hospital   (South Korea)

^c JUNTENDO UNIVERSITY   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

3BETA (4 IODOPHENYL) 2BETA TROPANECARBOXYLIC ACID METHYL ESTER; GENE PRODUCT; IODINE 123; PARKIN; UNCLASSIFIED DRUG;

ADULT; ARTICLE; BRADYKINESIA; CASE REPORT; CLINICAL FEATURE; DOPAMINERGIC NERVE CELL; EXON; FEMALE; GENE DELETION; GENE MUTATION; HOMOZYGOSITY; HUMAN; KOREA; ONSET AGE; PARKINSON DISEASE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SINGLE PHOTON EMISSION COMPUTER TOMOGRAPHY; STRIATONIGRAL DEGENERATION;

EID: 0034976937     PISSN: 00039942     EISSN: None     Source Type: Journal    
DOI: 10.1001/archneur.58.6.988     Document Type: Article

References (8)

1. Mutations in the parkin gene cause autosomal recessive juvenile parkinsonism
2. Deletions in the parkin gene and genetic heterogeneity in a Greek family with early onset Parkinson's disease
3. Homozygous deletions in parkin gene in European and North African families with autosomal recessive juvenile parkinsonism: The European Consortium on Genetic Susceptibility in Parkinson's Disease and the French Parkinson's Disease Genetics Study Group
4. 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 Parkinson's Disease
5. 123I]-β-CIT single-photon emission computed tomography is normal in doparesponsive dystonia
6. 123I]-β-CIT demonstrates presynaptic nigrostriatal dopaminergic damage in Wilson's disease
7. The pathology of parkinsonian disorders
8. Familial juvenile parkinsonism: Clinical and pathologic study in a family