机构：[1]Innovation center for neurological disorders Department of Neurology, Xuan Wu Hospital, Capital Medical University, Beijing, China首都医科大学宣武医院神经疾病高创中心（北京学者工作室）神经内科
Purpose of the study: Cerebrotendinous xanthomatosis (CTX) is an inherited disorder associated with abnormal deposition of cholestenol in the brain and other tissues. Here we report a Chinese family with two affected members of CTX.Materials and Methods: Clinical data were collected. Gene analysis, MRI, neuropsychological assessments, and the biopsy of right Achilles tendon xanthoma were carried out.Results: The two cases had similar symptoms for cataracts, chronic diarrhea, progressive cognitive impairment and a disturbance of gait, and were identified with the same compound heterozygous mutations, c.435G>T in exon 2 and c.562C>T in exon 3.Conclusions: Cerebrotendinous xanthomatosis (CTX) is an inherited disorder associated with abnormal deposition of cholestenol in the brain and other tissues. Although CTX is a treatable disease, the time of beginning treatment is crucial for therapeutic effect. Unfortunately, it usually takes years even decades from initial symptoms to the diagnosis of CTX. The screening for 27-hydroxylase (CYP27A1) gene even before the occurrence of tendon xanthoma is important for early diagnosis.
基金：
This study was supported by the Beijing Municipal Administration of Hospital’s Youth Programme
under Grant QML20170801; the National Natural Science Foundation of China under Grant
81701044; the National Key R&D Program of China under Grant 2017YFC1310102; the National
Natural Science Foundation of China under Grant 81671040
第一作者机构：[1]Innovation center for neurological disorders Department of Neurology, Xuan Wu Hospital, Capital Medical University, Beijing, China[*1]Innovation center for neurological disorders Department of Neurology, Xuan Wu Hospital, Capital Medical University, Beijing, China, 45 Changchun Street, Beijing 100053, China
通讯作者：
通讯机构：[1]Innovation center for neurological disorders Department of Neurology, Xuan Wu Hospital, Capital Medical University, Beijing, China[*1]Innovation center for neurological disorders Department of Neurology, Xuan Wu Hospital, Capital Medical University, Beijing, China, 45 Changchun Street, Beijing 100053, China[*2]Innovation center for neurological disorders Department of Neurology, Xuan Wu Hospital, Capital Medical University, Beijing, China, 45 Changchun Street, Beijing 100053, P.R. China
推荐引用方式(GB/T 7714)：
Tang Yi,Liu Yanqiu,Li Dan,et al.A novel mutation in the CYP27A1 gene in a family with cerebrotendinous xanthomatosis.[J].INTERNATIONAL JOURNAL OF NEUROSCIENCE.2020,130(10):972-975.doi:10.1080/00207454.2020.1713774.
APA：
Tang Yi,Liu Yanqiu,Li Dan,Guo Dongmei&Xing Yi.(2020).A novel mutation in the CYP27A1 gene in a family with cerebrotendinous xanthomatosis..INTERNATIONAL JOURNAL OF NEUROSCIENCE,130,(10)
MLA：
Tang Yi,et al."A novel mutation in the CYP27A1 gene in a family with cerebrotendinous xanthomatosis.".INTERNATIONAL JOURNAL OF NEUROSCIENCE 130..10(2020):972-975
