A female adult-onset X-ALD patient with pure cerebellar symptoms:a case report

作者全名："Qi, Wenjing; Cao, Du; Hao, Lei; Guo, Xiuming"

作者地址："[Qi, Wenjing; Cao, Du; Hao, Lei; Guo, Xiuming] Chongqing Med Univ, Affiliated Hosp 1, Dept Neurol, 1 Yixueyuan Rd, Chongqing 400016, Peoples R China"

通信作者："Hao, L; Guo, XM (通讯作者)，Chongqing Med Univ, Affiliated Hosp 1, Dept Neurol, 1 Yixueyuan Rd, Chongqing 400016, Peoples R China."

来源：HELIYON

ESI学科分类：　

WOS号：WOS:001293024400001

JCR分区：Q2

影响因子：4

年份：2024

卷号：10

期号：15

开始页：　

结束页：　

文献类型：Article

关键词：X -linked adrenoleukodystrophy; Cerebellum; Gene testing; Brain MRI; ABCD1 gene

摘要："X-linked adrenoleukodystrophy (X-ALD) caused by ATP-binding cassette subfamily D member 1 (ABCD1) gene defects is the most common inherited peroxisomal disorder.The female cerebello-brainstem dominant type in which cerebellum and brainstem are mainly involved is very rare. We report a 40-year-old female who was diagnosed as the rare disorder with magnetic resonance imaging (MRI) and genetic analysis mainly. Her initial symptoms were progressive slurred speech and writing disturbance. Her brain MRI showed obvious atrophy of brainstem and cerebellum. She did not have adrenal insufficiency. Genetic analysis showed a heterozygous missense mutation in exon 4 of the coding region of ABCD1 (c.1252C > T, p.Arg418Trp).This is the first report of this particular mutation being associated with the cerebello-brainstem dominant phenotype of X-ALD, as well as the first description of this X-ALD variant in a (heterozygous) female patient.X-ALD should be considered in young and middle-aged patients with slow-progressing ataxia and dysarthria."

基金机构：　

基金资助正文："We sincerely acknowledge the patient and her family, and thank Chongqing Clinical molecular medical testing Center for the analysis of the genetic study."