Early-onset Parkinson's disease caused by a compound heterozygous DJ-1 mutation

Annals of Neurology

Volumn 54, Issue 2, 2003, Pages 271-274

  Hague, Stephen ^a   Rogaeva, Ekaterina ^b   Hernandez, Dena ^a   Gulick, Cindy ^a   Singleton, Amanda ^g   Hanson, Melissa ^a   Johnson, Janel ^a   Weiser, Roberto ^c   Gallardo, Marisol ^c   Ravina, Bernard ^g   Gwinn Hardy, Katrina ^g   Crawley, Anthony ^g   St George Hyslop, Peter H ^b   Lang, Anthony E ^d   Heutink, Peter ^e   Bonifati, Vincenzo ^e,f   Hardy, John ^a   Singleton, Andrew ^a  

^a NATIONAL INSTITUTE ON AGING   (United States)

^b UNIVERSITY OF TORONTO   (Canada)

^c HOSPITAL UNIVERSITARIO DE CARACAS   (Venezuela)

^d TORONTO WESTERN HOSPITAL   (Canada)

^e ERASMUS MEDICAL CENTER   (Netherlands)

^f SAPIENZA UNIVERSITY OF ROME   (Italy)

^g NONE

Author keywords

[No Author keywords available]

Indexed keywords

DJ 1 PROTEIN; GENE PRODUCT; LEVODOPA; UNCLASSIFIED DRUG;

ADULT; AGED; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CLINICAL ARTICLE; DRUG RESPONSE; EXON; FEMALE; FRAMESHIFT MUTATION; GENE MUTATION; GENE SEQUENCE; HETEROZYGOTE; HUMAN; MALE; NUCLEOTIDE SEQUENCE; ONSET AGE; PARKINSON DISEASE; PRIORITY JOURNAL; SEQUENCE ANALYSIS;

ADULT; AGE OF ONSET; AGED; ANTIGENS, NEOPLASM; DNA; EXONS; FEMALE; HUMANS; MALE; MIDDLE AGED; MUTATION; PARKINSON DISEASE; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION;

EID: 0043204995     PISSN: 03645134     EISSN: None     Source Type: Journal    
DOI: 10.1002/ana.10663     Document Type: Article

References (8)

1. Tanner CM, Ottman R, Goldman SM, et al. Parkinson disease in twins: an etiologic study. JAMA 1999;281:341-346.
2. Payami H, Zareparsi S, James D, Nutt J. Familial aggregation of Parkinson disease: a comparative study of early-onset and late-onset disease. Arch Neurol 2002;59:848-850.
3. Bonifati V, Rizzu P, van Baren MJ, et al. Mutations in the DJ-1 gene associated with autosomal recessive early-onset parkinsonism. Science 2003;299:256-259.
4. Hughes AJ, Daniel SE, Lees AJ. Improved accuracy of clinical diagnosis of Lewy body Parkinson's disease. Neurology 2001;57:1497-1499.
5. Fahn S, Elton R, Members of the UPDRS Development Committee. In: Fahn S, Marsden CD, Calne DB, Goldstein M, eds. Recent developments in Parkinson's disease. New York: Macmillan Healthcare Information, 1987:153-164.
6. Hoehn MM, Yahr MD. Parkinsonism: onset, progression and mortality. Neurology 1967;17:427-42.
7. Antonarakis SE. Recommendations for a nomenclature system for human gene mutations. Nomenclature Working Group. Hum Mutat 1998;11:1-3.
8. Berger SM. Exon recognition in vertebrate splicing. J Biol Chem 1995;270:2411-2414.