Mutations in the ATP13A2 gene and Parkinsonism: a preliminary review.
Chengdu, China. In Biomed Res Int, 2013
PD appears to be caused by genetic and environmental factors, and pedigree and cohort studies have identified numerous susceptibility genes and loci related to PD. Autosomal recessive mutations in the genes Parkin, Pink1, DJ-1, ATP13A2, PLA2G6, and FBXO7 have been linked to PD susceptibility.
The genetics of Parkinson's disease: progress and therapeutic implications.
Bethesda, United States. In Mov Disord, 2013
Notably, whereas most mutations, such as those in SNCA, PINK1, PARK2, PARK7, PLA2G6, FBXO7, and ATP13A2, are a rare cause of disease, one particular mutation in LRRK2 has been found to be common in certain populations.
Early-onset autosomal-recessive parkinsonian-pyramidal syndrome.
Taipei, Taiwan. In Acta Neurol Taiwan, 2012
However, mutations inATP13A2, PLA2G6 and FBX07 are often associated with rapidly progressive parkinsonism and with additional features including pyramidal signs, cognitive decline and loss of sustained Levodopa responsiveness.Clarifying the phenotypes of each of these autosomal-recessive parkinsonian-pyramidal syndromes and understanding the mechanism ot these causative gene products might illuminate the pathogenesis of dopaminergic neuronal degeneration also in the common forms of PD.