Engelsk titel: Genetics in Parkinson disease
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Författare:
Toft M
;
Aasly J
Email: jan.aasly@medisin.ntnu.no
Språk: Nor
Antal referenser: 26
Dokumenttyp:
Översikt
UI-nummer: 04041969
Sammanfattning
BACKGROUND : Parkinson's disease, PD, is the second most common neurodegenerative disorder. A genetic component in Parkinson's disease was long thought to be unlikely, but recent genetic studies have identified several genes associated with the disease.
MATERIAL AND METHODS : A review of the literature and personal experiences from genetic studies in central Norway are presented.
INTERPRETATION : The genes and loci identified have improved our understanding of the pathogenesis in PD significantly. This knowledge may help to create new treatment strategies for PD.
RESULTS : Nine loci on the human genome have been linked to Parkinson's disease. Mutations in the alfa-synuclein, parkin, DJ-1, and arguably UCH-L1 genes are identified for familial PD. Recently a locus on chromosome 1 was linked to common late-onset PD in the Icelandic population. Iceland's population is primarily of Norse descent. This locus may be of significant importance to Norwegian PD patients.