PLA2G6 gene related early onset Parkinson syndrome with cerebellar atrophy: 3 cases report / 中华神经科杂志
Chinese Journal of Neurology
;
(12): 1292-1297, 2022.
Artigo
em Chinês
| WPRIM
| ID: wpr-958027
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.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Idioma:
Chinês
Revista:
Chinese Journal of Neurology
Ano de publicação:
2022
Tipo de documento:
Artigo
Similares
MEDLINE
...
LILACS
LIS