Spinal cerebrotendinous xanthomatosis: A case report and literature review

机译：脊髓脑脑旋转症：案例报告和文献综述

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Classic cerebrotendinous xanthomatosis (CTX; OMIM #213700) manifests with chronic diarrhea, juvenile cataracts, tendon xanthomas and neurological symptoms. It is due to biallelic inactivation of CYP27A1 wich leads to cholestanol accumulation in the central nervous system, eyes and tendons. Less commonly, the disease can present in young adults as spastic paraparesis in the absence of xanthomas.

机译：经典脑脑旋转症（CTX; OMIM＃213700）用慢性腹泻，青少年白内障，肌腱Xantonomas和神经系统症状表现出来。由于CYP27A1的双峰失活，WICH导致中枢神经系统，眼睛和肌腱中的胆中醇积累。不太常见的是，这种疾病可以在年轻的成年人中呈现在没有Xanthomas的痉挛性痉挛。

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期刊名称 Molecular Genetics and Metabolism Reports
作者
Isis Atallah; Diego San Millán; Wicki Benoît; Belinda Campos-Xavier; Andrea Superti-Furga; Christel Tran;
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作者单位

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年(卷),期 2021(-1),-1
年度 2021
页码 -1
总页数 9
原文格式 PDF
正文语种
中图分类遗传学;
关键词
Cerebrotendinous xanthomatosis; Spinal; Medullar; Clinical; Chenodeoxycholic acid; Genetic; CTX;

机译：脑血管瘤;脊髓;髓质;临床;辛过氧胆酸;遗传;CTX;

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1. Clinical and molecular genetic features of cerebrotendinous xanthomatosis in Taiwan: Report of a novel CYP27A1 mutation and literature review [J] . Lee Chia-Wei, Lee Jun-Jun, Lee Yen-Feng, Journal of clinical lipidology . 2019,第6期

机译：台湾脑旋转瘤症的临床和分子遗传特征：新型CYP27A1突变与文献综述报告
2. Atypical parkinsonism and cerebrotendinous xanthomatosis: Report of a family with corticobasal syndrome and a literature review [J] . Rubio-AgustiI., KojovicM., EdwardsM.J., Movement disorders . 2012,第14期

机译：非典型帕金森氏病和脑黄瘤病：一个患有皮质基底膜综合征的家庭的报告和文献复习
3. Atypical parkinsonism and cerebrotendinous xanthomatosis: Report of a family with corticobasal syndrome and a literature review [J] . Rubio-AgustiI., KojovicM., EdwardsM.J., Movement disorders . 2012,第14期

机译：非典型帕金森主义和脑脑血管瘤症：具有皮质缺鼠综合征的家庭报告和文献综述
4. Glioblastomas of Spinal Cord: A Case Report and Review of the Literature [C] . K. Liaropoulos, P. Spiropoulou, N. Papadakis European Congress of Neurosurgery . 2003

机译：脊髓的胶质母细胞瘤：文献的案例报告和审查
5. Reporting the Performance of Confidence Intervals in Statistical Simulation Studies: A Systematic Literature Review [D] . Kabakci, Maside. 2019

机译：报告统计模拟研究中置信区间的置信区间性能：系统文献综述
6. The Importance of Ophthalmic Examination in Initial Diagnostic Process of Xanthoma: Two Case Reports and Literature Review of Cerebrotendinous Xanthomatosis [O] . Insun Goak, Seol A Jang, Ji Hyun Park 2021

机译：眼科检查在Xanthoma初步诊断过程中的重要性：两种情况报告和脑脑旋转症的文献综述
7. Cerebrotendinous xanthomatosis; a genetic condition: Clinical profile of three patients from a rural Indian family and review of literature [O] . Vikas Saxena, Pavan Pradhan 2016

机译：脑血管瘤症;一种遗传条件：三名农村印度家庭患者的临床剖面及文学审查

Spinal cerebrotendinous xanthomatosis: A case report and literature review

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