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- Title
Clinical, biochemical, neuroimaging and molecular findings of X-linked Adrenoleukodystrophy patients in South China.
- Authors
Jiang, Min-yan; Cai, Yan-na; Liang, Cui-li; Peng, Min-zhi; Sheng, Hui-ying; Fan, Li-ping; Lin, Rui-zhu; Jiang, Hua; Huang, Yonglan; Liu, Li
- Abstract
X-linked adrenoleukodystrophy is a common X-linked recessive peroxisomal disorder caused by the mutations in the ABCD1 gene. In this study, we analyzed 19 male patients and 9 female carriers with X-linked adrenoleukodystrophy in South China. By sequencing the ABCD1 gene, 13 different mutations were identified, including 7 novel mutations, and 6 known mutations, and 1 reported polymorphism. Mutation c.1180delG was demonstrated to be de novo mutation. 26.3 % (5/19) patients carried the deletion c.1415_16delAG, which may be the mutational hot spot in South China population. In addition, 73.7 % (14/19) patients were type of childhood cerebral adrenoleukodystrophy, 26.3 %(5/19) were in Addison only. Half of the childhood cerebral adrenoleukodystrophy patients had the adrenocortical insufficiency preceded the onset of neurological symptoms. Furthermore, 5 of 19 cases underwent hematopoietic stem cell transplantation. Our data showed that hematopoietic stem cell transplantation performed at an advanced stage of the cerebral X- linked adrenoleukodystrophy would accelerate the progression of the disease. Good clinical outcome achieved when hematopoietic stem cell transplantation performed at the very early stage of the disease.
- Subjects
CHINA; BRAIN imaging; ADRENOLEUKODYSTROPHY; X-linked genetic disorders; GENETIC mutation; GENETIC polymorphisms; PATIENTS
- Publication
Metabolic Brain Disease, 2015, Vol 30, Issue 6, p1439
- ISSN
0885-7490
- Publication type
Article
- DOI
10.1007/s11011-015-9717-6