Up with the lark: A panoptic view of Parkinson disease.

摘要

In 2004, the gene for the leucine-rich repeat kinase 2 (LRRK2) was cloned simultaneously by 2 groups. Zimprich et al. described 5 different mutations in the LRRK2 gene while studying 2 large families with parkinsonism linked to a region in chromosome 12 identified as the eighth locus associated with familial parkinsonism (PARK8) and 44 additional smaller families with parkinsonism. Neuropathologic data were available for 6 subjects, and although all 6 had cell loss and gliosis in the substantia nigra, Lewy bodies were found in only 2. Paisan-Ruiz et al.2 looked at 5 PARK8 families and found mutations in the LRRK2 gene. Because 4 of the families were from the Basque country in Northern Spain, they named the mutant protein Dardarin, from the Basque word "dardara," which means "tremor." They also tested another 137 patients with sporadic Parkinson disease (PD) from the same region and found that 11 (5 of whom had no family history) carried the same R1396G mutation. They also concluded that LRRK2 may be one cause of PD.