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Subject: PD Genetics: Cuban Kindred Without Known Mutations; Haploinsufficiency of Parkin (PD Congress 2001) Date: 8/7/2001 E-MOVE reports from the 14th International Congress on Parkinson's Disease, Helsinki July 28-Aug 1. Poster and Platform session numbers refer to those in the abstract book, published in Parkinsonism and Related Disorders 2001;7(Supplement).1. Autosomal dominant Parkinson disease not linked to any known park locus AM Bertoli Avela, JL Giroud Benitez, V Bonifati, C van Duijn, L Heredero Baute, P Heutink P-WE-416 Genetic analysis of a large Cuban family revealed 11 patients with Parkinson's disease among 213 family members. Inheritance appears to be autosomal dominant with high penetrance. Affected members have typical adult-onset PD (mean age of onset 59.4 years), with unilateral onset, rest tremor, bradykinesia, rigidity, and good response to levodopa. Linkage and haplotype analysis has ruled out the alpha-synuclein gene, the parkin gene, the UCH-L1 gene, and PARK3. 2. Haploinsufficiency of the gene product: In-vivo evidence for a novel pathogenic model in parkin-associated parkinsonism? R Hilker, PP Pramstaller, B Kis, LJ Ozelius, M Ghaemi, P Vieregge, K Herholz, WD Heiss, C Klein P-WE-426 Parkin heterozygotes have reduced 18F-dopa uptake, according to this study. PET analysis of patients heterozygous for parkin mutations revealed reduced 18F-dopa uptake compared to healthy controls (p<0.05), despite absence of clinical symptoms. Uptake was greater than that in either homozygote parkin patients or sporadic PD patients (p<0.01). The authors conclude, "These findings suggest the extent of striatal dopaminergic dysfunction, i.e., nigral cell death, depends on the proportion of mutant and intact alleles within the parkin gene locus." --- Funding for E-MOVE meeting reports is provided in part by unrestricted educational grants from Allergan Inc., Elan Pharmaceuticals, and Pharmacia Corporation. E-MOVE Editor: Richard Robinson, NASW, WE MOVE
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