HTRA2 variations in Taiwanese Parkinson's disease.

摘要: Mutations in HTRA2 have been reported to associate with Parkinson’s disease (PD). This study investigates if the genetic variants contribute Taiwanese PD. cDNA fragments from 80 patients early-onset PD (onset ≤50 years) were sequenced. The identified further examined for a cohort of and ethnically matched controls. A novel heterozygous R36W was one two late-onset patients, which absent 606 normal clinical features 99mTc-TRODAT-1 SPECT image patient carrying similar that idiopathic mutation inherited his mother whose revealed asymmetric reduction uptake left striatum, suggesting defect nigrostriatal pathway may be attributable this family. Protein subcellular fractionation affected processing proprotein after transport into mitochondria. Although functional assays are promising, larger both cases controls should screened clarify role pathogenicity.