Clinical characteristics of adrenoleukodystrophy with a novel ABCD1 gene mutation
10.3760/cma.j.cn311282-20230127-00043
- VernacularTitle:一例肾上腺脑白质营养不良症的临床特点及ABCD1基因新突变分析
- Author:
Han YAN
1
;
Bingshuang XUE
;
Qichao YANG
;
Yuhe WEI
;
Xuejing SHAO
Author Information
1. 江苏大学附属武进医院内分泌科，常州 213000
- Keywords:
Adrenoleukodystrophy;
Rare disease;
Gene mutation;
ABCD1 gene
- From:
Chinese Journal of Endocrinology and Metabolism
2023;39(10):833-838
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To analyze the clinical features and genetic background of adrenoleukodystrophy(ALD).Methods:In this study, we reported a rare case of ALD who initially presented with progressive bilateral lower limb weakness. The clinical data of the patient and his family members were collected and the ABCD1 gene was sequenced for the patient and his three daughters by a high-throughput sequencing method.Results:The proband had a later onset of symptoms, a prolonged course of the disease, and initially exhibited bilateral lower limb weakness and nocturnal muscle spasms. The disease progressed to spastic quadriplegia, aphasia, dementia, swallowing difficulties, and urinary and fecal incontinence. Serum very-long-chain fatty acid concentrations were elevated. Subclinical cortisol secretion abnormalities were observed. Cranial imaging indicated symmetrical reduction in density around the lateral ventricles and white matter degeneration. The proband′s ABCD1 gene analysis revealed a novel heterozygous mutation c. 1367G>A, p. R456H. His three daughters carried the same nucleotide heterozygous mutation.Conclusion:This study investigates the clinical characteristics of ALD, providing additional clinical evidence for the diagnosis and treatment of this condition. Additionally, a novel mutation in the ABCD1 gene was identified, contributing to the genetic variation database.
