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First Clinicogenetic Description of Parkinson's Disease Related to GBA Mutation S107L
Ellen Hertz1, Måns Thörnqvist2, Björn Holmberg3
1Section of Neurology, Department of Clinical Neuroscience Karolinska Institute Stockholm Sweden.
Background:
Mutations in the glucocerebrosidase gene (GBA) are a common genetic risk factor for Parkinson's disease (PD). Mutations in the N-terminus part of GBA are less commonly found in association with PD than those in the C-terminus. Phenotypic characterization of GBA-related PD has been challenging, in part attributed to differential impact of distinct GBA mutations.
Aim:
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.
Methods:
Motor and nonmotor symptoms (NMS) of PD were evaluated using established rating scales and questionnaires. The genotype was determined by Sanger sequencing.
Results:
Two half-brothers, both heterozygous carriers of S107L, exhibited an early PD onset with several NMS.
Conclusions:
In these patients, heterozygosity for S107L was associated with an early onset of PD with NMS.