Parkin mutation may be associated with serious akinesia in a patient with Parkinson's disease

Acute akinesia (AA) is an unusual motor complication in Parkinson's disease (PD). Reported risk factors for AA include infection, trauma, surgical intervention, and the withdrawal of antiparkinsonian medication. Recently, patients with genetic PD were reported to have a three-fold risk of AA than patients with non-genetic PD. We describe a patient with PD associated with a Parkin mutation in whom serious akinesia developed. A 42-year-old man with exon 2 heterozygous deletion and exon 4 heterozygous deletion in the PARK2 gene showed five unexpected AA for several 12h. At fifth AA, he could not move any part of the body while lying in front of a stove in his house all night. He was admitted to our hospital because a third-degree burn had developed on 16% of the body surface area. Parkin mutation in addition to POLG1 or PINK1 mutation may be associated with serious AA.