PLA2G6 gene related early onset Parkinson syndrome with cerebellar atrophy: 3 cases report
10.3760/cma.j.cn113694-20220720-00563
- VernacularTitle:伴小脑萎缩的PLA2G6基因相关早发性帕金森综合征3例
- Author:
Jin MA
1
;
Xianling WANG
;
Chaodong WANG
Author Information
1. 首都医科大学宣武医院神经内科，北京100053
- Keywords:
Parkinsonian disorders;
Cerebellum;
Atrophy;
Mutation;
PLA2G6 gene
- From:
Chinese Journal of Neurology
2022;55(11):1292-1297
- CountryChina
- Language:Chinese
-
Abstract:
To investigate the clinical features of patients with PLA2G6 gene related early onset Parkinson syndrome (EOP) with cerebellar atrophy, the clinical data of 3 hospitalized EOP patients with PLA2G6 gene mutation were collected in Xuanwu Hospital, Capital Medical University, and the clinical characteristics, imaging features and genetic testing results were comparatively analyzed. Related literatures were also reviewed. Cerebellar atrophy was observed on cranial magnetic resonance imaging in all 3 patients with Parkinson syndrome except for extrapyramidal symptoms. All 3 patients had heterozygous mutations of PLA2G6 gene, and the common mutation site of c.991G>T (p. D331Y) was found in 2 patients by second-generation sequencing. This report enlarges the clinical phenotypic spectrum of the disease and helps to better understand the disease.
