Author Affiliation: Department of Neurology, Mayo Clinic, Rochester, Minnesota.
Monogenetic forms of parkinsonism now include 16 established loci in the “ PARK ” nomenclature. In this issue of JAMA Neurology, Doherty and colleagues1 describe details of the most common autosomal recessive parkinsonism, PARK2, which is associated with parkin gene mutations. In the most comprehensive description of PARK2, these investigators detail the clinical phenotype of 5 patients, who were observed for decades, plus their neuropathology.1 Notably, the pathology was a non–Lewy body pathology. Although parkin is uncommon in Parkinson disease (PD) clinics, this report1 should be of interest to general neurologists once it is put into a broader context.
Ahlskog JE. Lessons for Parkinson Disease From the Parkin Genotype. JAMA Neurol. 2013;70(5):551-552. doi:10.1001/jamaneurol.2013.104