Clinical analysis of a family with autosomal recessive spastic paraplegia caused by IBA57 gene mutations
10.3760/cma.j.cn113694-20230111-00023
- VernacularTitle:IBA57基因突变致常染色体隐性痉挛性截瘫一家系临床分析
- Author:
Mingxia SUN
1
;
Ying HUA
;
Jianbiao WANG
;
Yineng ZHOU
;
Jian ZHOU
Author Information
1. 南京医科大学附属无锡儿童医院神经内科，无锡 214023
- Keywords:
IBA57 gene;
Spastic paraplegia;
Mutation;
Whole exome sequencing
- From:
Chinese Journal of Neurology
2023;56(8):902-908
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To investigate the clinical, imaging and gene variation characteristics of hereditary spastic paraplegia type 74 caused by mutations in IBA57 gene. Methods:A retrospective analysis was performed on 2 cases of autosomal recessive spastic paraplegia caused by mutations in IBA57 gene who visited the Department of Neurology, the Affiliated Wuxi Children′s Hospital of Nanjing Medical University in 2010 and 2021, and the patients′ clinical data were collected. Results:The 2 patients were siblings with onset age of 4 years and 7 months, 1 year and 3 months, respectively. The same compound heterozygous mutations in IBA57 gene were found in the sibling patients [c.473G>C (p.R158P) and c.697C>T (p.R233X)]. Both patients were diagnosed as spastic paraplegia type 74. They had mild to moderate gait abnormalities, optic atrophy, decreased vision, and leukodystrophy with periventricular white matter abnormality, but no obvious growth and mental retardation in developmental assessment. Conclusions:Cases of spastic paraplegia type 74 caused by compound heterozygous mutations in IBA57 gene mainly manifested as childhood onset and slowly progressive inferior spasmodic weakness. The patients did not display significant cognitive impairment, and imaging examinations showed obvious leukodystrophy.
