Spencer S. Eccles Health Sciences Library, University of Utah
Abstract
Mutations of GBA (Glucocerebrosidase) and ATP13A2 (P5-ATPase) genes are risk factors for Parkinson's disease (PD). Homozygous mutations of these genes cause rare, early onset diseases: Gaucher and Kufor-Rakeb, respectively. Given that supranuclear gaze palsy (SGP) is characteristic in Gaucher (horizontal SGP) and Kufor-Rakeb (vertical SGP), detailed eye movement analysis was performed in a patient with young-onset parkinsonism and heterozygous mutations of both genes
