Clinical, imaging and genetic analyses of two Chinese families with oculopharyngeal muscular dystrophy
10.3760/cma.j.cn115354-20191104-00639
- VernacularTitle:眼咽型肌营养不良二家系的临床、影像学特点及致病基因分析
- Author:
Haiyan LI
1
;
Gaiqing WANG
;
Beisha TANG
;
Ruidong HE
;
Shuxia WANG
;
Guangxue LI
Author Information
1. 新乡医学院附属安阳市人民医院神经内科 455000
- Keywords:
Oculopharyngeal muscular dystrophy;
Imaging;
PABPN1 gene;
Mutation
- From:
Chinese Journal of Neuromedicine
2020;19(4):385-390
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To study the clinical, imaging and genetic characteristics of two Chinese families with oculopharyngeal muscular dystrophy (OPMD).Methods:The clinical data of the two families found in our hospital in August 2016 and May 2018 were analyzed. All the members were investigated in detail, and the clinical and imaging data of the probands were analyzed. Blood samples were collected from 22 members of the two families and PABPN1 gene analysis was performed. Results:There were 4 patients in family 1 with four generations and 4 patients in family 2 with three generations. The two probands presented ptosis, dysphagia at the age of 50 and 55. The proband of family 1 also showed diplopia, amyotrophy, weakness of proximal limbs, neurogenic changes in electromyogram (EMG), muscle fibers with rimmed vacuoles in muscle pathology, aspiration pneumonia in chest CT, and brainstem symmetric white matter lesions in cranial MR imaging. The proband of family 2 also showed eye muscle paralysis and lateral limb weakness, myogenic changes in EMG, bilateral parietal and right frontal lacunar infarctions in cranial MR imaging. Analysis of PABPN1 gene showed that the repeated mutation of PABPN1 trinucleotide (GCN) in 2 families was amplified from normal (GCG) 6(GCA) 3(GCG) to (GCG) 6(GCA) 3(GCG) 2(GCA) 3(GCG). Conclusion:OPMD has clinical heterogenicity; symmetrical white matter lesions in the brainstem might be found in cranial MR imaging; Chinese patients with OPMD have PABPN1 gene mutation, specificly manifested as (GCG) 6(GCA) 3(GCG) 2(GCA) 3(GCG) repeat mutations.
