Autosomal recessive early onset parkinsonism is linked to three loci: PARK 2, PARK 6 and PARK7
Autosomal recessive, early onset parkinsonism (AREP) is genetically heterogeneous. Mutations in the parkin gene (PARK2 locus, chromosome 6q) account for up to 50% of AREP families. The parkin protein displays ubiquitin-ligase activity for different targets, which accumulate in the brain of patients with parkin defect and might cause neurodegeneration. Two new AREP loci (PARK6 and PARK7) have been recently mapped on chromosome 1p and confirmed in independent datasets, suggesting that both might be frequent. The three AREP forms display similar clinical phenotypes. Recruiting new families will help cloning the defective genes at PARK6 and PARK7 loci. This will contribute to unraveling the pathogenesis of AREP, and it is also expected to foster our understanding of molecular events underlying classic Parkinson's disease.
|Keywords||*Ubiquitin-Protein Ligases, Age of Onset, Consanguinity, EC 6. (Ligases), EC 220.127.116.11 (Ubiquitin-Protein Ligases), EC 18.104.22.168 (parkin protein), Genotype, Human, Ligases/*genetics, Mutation, Parkinson's disease, Parkinsonian Disorders/*genetics, Pedigree, Phenotype|
|Persistent URL||dx.doi.org/10.1007/s100720200069, hdl.handle.net/1765/5901|
Bonifati, V., Vanacore, N., Fabbrini, G., Squitieri, F., Marconi, R., Antonini, A., … Dekker, M.C.J.. (2002). Autosomal recessive early onset parkinsonism is linked to three loci: PARK 2, PARK 6 and PARK7. Neurological Sciences, 23(SUPPL. 2), 59–60. doi:10.1007/s100720200069