Margoni M, Soli F, Sangalli A, Bellizzi M, Cecchini E, Buganza M
The Multiple Sclerosis Centre - Veneto Region (CeSMuV), Department of Neurosciences, University Hospital of Padova, Italy.
Department of Genetics, Santa Chiara Hospital, Trento, Italy.
J Clin Neurosci. 2017 Sep;43:175-177. doi: 10.1016/j.jocn.2017.05.025. Epub 2017 Jun 7.
X-linked adrenoleukodystrophy (X-ALD) is the most common peroxisomal disorder. The disease is the consequence of mutations in the ABCD1 gene that encodes the peroxisomal membrane protein ALDP which is involved in the transmembrane transport of very long-chain fatty acids. We describe a family with six members carrying a novel heterozygous mutation IVS4+2T>A (c.1393+2T>A) of the ABCD1 gene, highlighting the wide range of phenotypic manifestations of ALD and the importance of genetic screening before any pregnancy in asymptomatic women whose carrier status is unknown.
X连锁肾上腺脑白质营养不良（X-ALD）是最常见的过氧化物酶体疾病。该疾病是由ABCD1基因突变引起的，该基因编码过氧化物酶体膜蛋白ALDP，它参与超长链脂肪酸的跨膜转运。我们描述了一个有六个成员的家庭，他们携带ABCD1基因的一种新的杂合突变IVS4+2T>A（c.1393+2T>A），强调了ALD广泛的表型表现以及对携带者状态未知的无症状女性在任何妊娠前进行基因筛查的重要性。
