Hertz Ellen, Thörnqvist Måns, Holmberg Björn, Machaczka Maciej, Sidransky Ellen, Svenningsson Per
Section of Neurology, Department of Clinical Neuroscience Karolinska Institute Stockholm Sweden.
Section of Neurology Södra Älvsborg Hospital Borås Sweden.
Mov Disord Clin Pract. 2019 Mar 7;6(3):254-258. doi: 10.1002/mdc3.12743. eCollection 2019 Mar.
Mutations in the glucocerebrosidase gene () are a common genetic risk factor for Parkinson's disease (PD). Mutations in the N-terminus part of are less commonly found in association with PD than those in the C-terminus. Phenotypic characterization of -related PD has been challenging, in part attributed to differential impact of distinct mutations.
To provide a phenotypic description of two patients with PD heterozygous for the mutation S107L. The S107L mutation is located in the catalytic domain of glucocerebrosidase and has not previously been reported in patients with PD.
Motor and nonmotor symptoms (NMS) of PD were evaluated using established rating scales and questionnaires. The genotype was determined by Sanger sequencing.
Two half-brothers, both heterozygous carriers of S107L, exhibited an early PD onset with several NMS.
In these patients, heterozygosity for S107L was associated with an early onset of PD with NMS.
葡萄糖脑苷脂酶基因（）突变是帕金森病（PD）常见的遗传风险因素。与C端突变相比，该基因N端部分的突变与PD相关的情况较少见。与相关的PD的表型特征一直具有挑战性，部分原因是不同的突变有不同影响。
对两名携带葡萄糖脑苷脂酶突变S107L的杂合子PD患者进行表型描述。S107L突变位于葡萄糖脑苷脂酶的催化结构域，此前尚未在PD患者中报道过。
使用既定的评定量表和问卷对PD的运动和非运动症状（NMS）进行评估。通过桑格测序确定基因型。
两名同父异母兄弟均为S107L杂合子携带者，表现为早期PD发病并伴有多种NMS。
在这些患者中，S107L杂合性与伴有NMS的早期PD发病有关。
