UNASSIGNED: To provide a phenotypic description of two patients with PD heterozygous for the GBA mutation S107L. The S107L mutation is located in the catalytic domain of glucocerebrosidase and has not previously been reported in patients with PD.
UNASSIGNED: Motor and nonmotor symptoms (NMS) of PD were evaluated using established rating scales and questionnaires. The genotype was determined by Sanger sequencing.
UNASSIGNED: Two half-brothers, both heterozygous carriers of S107L, exhibited an early PD onset with several NMS.
UNASSIGNED: In these patients, heterozygosity for S107L was associated with an early onset of PD with NMS.