Neurodegeneration with Brain Iron Accumulation Disorders Overview
Seattle, United States. In Unknown Journal, 28 Mar 2013
The nine genes known to be associated with types of NBIA are PANK2, PLA2G6, C19orf12, FA2H, ATP13A2, WDR45, FTL, CP, and DCAF17.
Monogenic Parkinson's disease and parkinsonism: Clinical phenotypes and frequencies of known mutations.
Lund, Sweden. In Parkinsonism Relat Disord, 22 Mar 2013
Changes in a long list of additional genes have been suggested as causes for parkinsonism or PD, including genes for hereditary ataxias (ATXN2, ATXN3, FMR1), frontotemporal dementia (C9ORF72, GRN, MAPT, TARDBP), DYT5 (GCH1, TH, SPR), and others (ATP13A2, CSF1R, DNAJC6, FBXO, GIGYF2, HTRA2, PLA2G6, POLG, SPG11, UCHL1).
The genetics of Parkinson's disease: Progress and therapeutic implications.
Bethesda, United States. In Mov Disord, Jan 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.
Parkinson's Disease: from genetics to treatments.
In Cell Transplant, Dec 2012
The molecular investigations of proteins encoded by PD-linked genes have clarified that ADPD is associated with α-synuclein and LRRK2; while ARPD is linked to Parkin, PINK1, DJ1, and ATP13A2.
Iron dysregulation in movement disorders.
Houston, United States. In Neurobiol Dis, Apr 2012
Another group of NBIAs is caused by mutations in lysosomal enzymes or transporters such as ATP13A2, mucolipin-1 and possibly also β-galactosidase and α-fucosidase.
Genetics of Parkinson's disease.
Lübeck, Germany. In Semin Neurol, 2011
The authors review the rapidly growing field of PD genetics, with a focus on the clinical, genetic, and pathophysiologic features of well-validated monogenic forms of PD caused by mutations in the SNCA, LRRK2, PARKIN, PINK1, DJ-1, and ATP13A2 genes.