Review
Biochemistry & Molecular Biology
Andrea E. DeBarber, P. Barton Duell
Summary: Cerebrotendinous xanthomatosis (CTX) is a rare genetic disorder with highly variable clinical presentation. Early diagnosis and treatment are crucial for better outcomes. New diagnostic algorithms, screening strategies, and improved biochemical testing contribute to enhanced diagnosis and evaluation of treatment efficacy.
CURRENT OPINION IN LIPIDOLOGY
(2021)
Editorial Material
Endocrinology & Metabolism
Sarah Marie Brike, Wouter Meersseman, David Cassiman
Summary: Profit-driven games resulted in discontinuation of proper treatment for a patient with cerebrotendinous xanthomatosis, leading to disastrous consequences for his health.
JOURNAL OF INHERITED METABOLIC DISEASE
(2022)
Article
Medicine, General & Internal
Zhao-Ran Li, Yu-Ling Zhou, Qi Jin, Yin-Yin Xie, Hong-Mei Meng
Summary: Cerebrotendinous xanthomatosis (CTX) is a rare metabolic disease caused by mutations in CYP27A1, with diverse clinical manifestations and a low incidence rate. Improved awareness of CTX among clinicians can lead to earlier diagnosis and better patient outcomes.
WORLD JOURNAL OF CLINICAL CASES
(2022)
Article
Clinical Neurology
Monica Gelzo, Maria Donata Di Taranto, Alvino Bisecco, Alessandra D'Amico, Rocco Capuano, Carola Giacobbe, Mafalda Caputo, Mario Cirillo, Gioacchino Tedeschi, Giuliana Fortunato, Gaetano Corso
Summary: CTX is a rare genetic metabolic disorder caused by a defect in bile acid biosynthesis, characterized by chronic diarrhea, cataracts, xanthomas, and neurological dysfunction, with significant variability in symptoms and age of onset. Early diagnosis through biochemical and genetic screening is crucial for timely pharmacological intervention and prevention of neurological complications.
ACTA NEUROLOGICA BELGICA
(2021)
Review
Neurosciences
Rodrigo Mariano Ribeiro, Sophia Costa Vasconcelos, Pedro Lucas Grangeiro de Sa Barreto Lima, Emanuel Ferreira Coelho, Anna Melissa Noronha Oliveira, Emanuel de Assis Bertulino Martins Gomes, Luciano de Albuquerque Mota, Lucas Soares Radtke, Matheus dos Santos Carvalho, David Augusto Batista Sa Araujo, Maria Suelly Nogueira Pinheiro, Vitor Carneiro de Vasconcelos Gama, Renan Magalhaes Montenegro Junior, Pedro Braga Neto, Paulo Ribeiro Nobrega
Summary: Cerebrotendinous xanthomatosis (CTX) is an autosomal recessive disorder caused by CYP27A1 gene mutations, resulting in sterol 27-hydroxylase deficiency. This leads to the accumulation of cholesterol and other lipids in various tissues. Lipid profile evaluations of CTX patients consistently show elevated levels of cholestanol and normal or low serum cholesterol levels. Decreased chenodeoxycholic acid (CDCA) levels lead to increased synthesis of cholesterol metabolites, such as bile alcohols, which can serve as markers in CTX patients. Lipid abnormalities in CTX have clinical implications, contributing to neurological symptoms, tendon xanthomas, and increased risk of atherosclerosis and cardiovascular complications.
Review
Peripheral Vascular Disease
Shingo Koyama, Yoshiki Sekijima, Masatsune Ogura, Mika Hori, Kota Matsuki, Takashi Miida, Mariko Harada-Shiba
Summary: Cerebrotendinous xanthomatosis (CTX) is a rare genetic disorder characterized by a variety of systemic symptoms including jaundice, diarrhea, cataracts, tendon xanthomas, osteoporosis, coronary heart disease, and neuropsychiatric manifestations. Early diagnosis and treatment initiation are crucial for the prognosis of CTX patients.
JOURNAL OF ATHEROSCLEROSIS AND THROMBOSIS
(2021)
Article
Pharmacology & Pharmacy
Natalja Bouwhuis, Bart A. W. Jacobs, E. Marleen Kemper
Summary: This study demonstrates the development of CDCA capsules as a viable alternative for Dutch patients with CTX due to the unavailability of the drug in 2017. The pharmacy preparations were found to be of high quality and compliance with GMP requirements through product validation and stability studies.
FRONTIERS IN PHARMACOLOGY
(2023)
Review
Clinical Neurology
Paulo Ribeiro Nobrega, Anderson Moura Bernardes, Rodrigo Mariano Ribeiro, Sophia Costa Vasconcelos, David Augusto Batista Sa Araujo, Vitor Carneiro de Vasconcelos Gama, Helena Fussiger, Carolina de Figueiredo Santos, Daniel Aguiar Dias, Andre Luiz Santos Pessoa, Wladimir Bocca Vieira de Rezende Pinto, Jonas Alex Morales Saute, Paulo Victor Sgobbi de Souza, Pedro Braga-Neto
Summary: Cerebrotendinous Xanthomatosis is a rare and underdiagnosed neurometabolic disorder with diverse neurological presentations. Treatment with chenodeoxycholic acid has shown effectiveness, but its availability and cost limit its use.
FRONTIERS IN NEUROLOGY
(2022)
Article
Clinical Neurology
Shingo Koyama, Yuma Okabe, Yuya Suzuki, Ryosuke Igari, Hiroyasu Sato, Chifumi Iseki, Kazuyo Tanji, Kyoko Suzuki, Yasuyuki Ohta
Summary: CTX is a lipid storage disorder caused by mutations in the CYP27A1 gene, leading to different clinical phenotypes and treatment responses. Early diagnosis and treatment are crucial for improving long-term outcomes.
Article
Biochemistry & Molecular Biology
Jun-Jun Lee, Chiung-Chih Chang, Wen-Neng Chang
Summary: This study used tractography and diffusion kurtosis imaging (DKI) to evaluate cerebral white matter (WM) changes in patients with cerebrotendinous xanthomatosis (CTX) after stopping chenodeoxycholic acid (CDCA) treatment. The results showed that the changes in WM identified by tractography and DKI were correlated with the results of neuropsychiatric tests, suggesting their potential utility in assessing WM changes in CTX patients.
BIOMEDICAL JOURNAL
(2022)
Article
Medicine, Research & Experimental
Sara Lumbreras, Ana Ricobaraza, Lucia Baila-Rueda, Manuela Gonzalez-Aparicio, Lucia Mora-Jimenez, Iker Uriarte, Maria Bunuales, Matias A. Avila, Maria J. Monte, Jose J. G. Marin, Ana Cenarro, Gloria Gonzalez-Aseguinolaza, Ruben Hernandez-Alcoceba
Summary: The study evaluated the therapeutic potential of AAV vectors expressing CYP27A1 in a CTX mouse model, finding that the vector at low doses had a therapeutic effect and good tolerability, restoring bile acid metabolism and normalizing bile acid concentration in plasma. Standard treatment, on the other hand, did not restore normal bile acid composition in plasma.
MOLECULAR THERAPY-METHODS & CLINICAL DEVELOPMENT
(2021)
Article
Cell Biology
Xiaobo Wang, Jiawei Shi, Mingming Huang, Jiehong Chen, Jia Dan, Yunhua Tang, Zhiyong Guo, Xiaoshun He, Qiang Zhao
Summary: Cholesterol metabolism plays a critical role in the progression of hepatocellular carcinoma (HCC). TUBB2B gene is associated with HCC prognosis. TUBB2B functions as an oncogene in HCC, promoting cell proliferation and anti-apoptosis through targeting HNF4A/CYP27A1/cholesterol.
CELL DEATH & DISEASE
(2023)
Article
Clinical Neurology
Min Young Chun, Nam Jin Heo, Sang Won Seo, Hyemin Jang, Yeon-Lim Suh, Ja-Hyun Jang, Young-Eun Kim, Eun-Joo Kim, So Young Moon, Na-Yeon Jung, Sun Min Lee, Hee Jin Kim
Summary: This report presents a case of Cerebrotendinous xanthomatosis (CTX) with an unusual phenotype of behavioral variant frontotemporal dementia (bvFTD) in middle age. Initial imaging showed high signal in the periventricular area and hypoperfusion in the frontal and temporal lobes. However, physical examination revealed xanthomas on the dorsum of the hands and Achilles tendons. Serum testing showed elevated cholesterol levels. Diagnosis of CTX was confirmed through detection of mutations in the CYP27A1 gene, and the patient was started on medication.
FRONTIERS IN NEUROLOGY
(2023)
Article
Genetics & Heredity
Yongchao Mou, Ghata Nandi, Sukhada Mukte, Eric Chai, Zhenyu Chen, Jorgen E. Nielsen, Troels T. Nielsen, Chiara Criscuolo, Craig Blackstone, Matthew J. Fraidakis, Xue-Jun Li
Summary: This study established iPSC-based models for CTX and SPG5 and found that CDCA can mitigate the pathological changes and axonal degeneration in neurons of both diseases. They also discovered that the deficiency of CYP7B1 leads to neurodegeneration and CDCA can rescue it.
ORPHANET JOURNAL OF RARE DISEASES
(2023)
Article
Multidisciplinary Sciences
Liming Yu, Lin Xu, Haiyan Chu, Jun Peng, Anastasia Sacharidou, Hsi-hsien Hsieh, Ada Weinstock, Sohaib Khan, Liqian Ma, Jose Gabriel Barcia Duran, Jeffrey McDonald, Erik R. Nelson, Sunghee Park, Donald P. McDonnell, Kathryn J. Moore, Lily Jun-shen Huang, Edward A. Fisher, Chieko Mineo, Linzhang Huang, Philip W. Shaul
Summary: Hypercholesterolemia and vascular inflammation both contribute to the development of atherosclerosis. This study reveals that the cholesterol metabolite 27-hydroxycholesterol plays a key role in the crosstalk between macrophages and endothelial cells, driving vascular inflammation and contributing to atherosclerosis in male mice.
NATURE COMMUNICATIONS
(2023)
Review
Cell Biology
Zhaohui Zhang, Shuke Nie, Liam Chen
NEURAL REGENERATION RESEARCH
(2018)
Article
Neurosciences
Cong Zheng, Guiqin Chen, Yang Tan, Weiqi Zeng, Qiwei Peng, Ji Wang, Chi Cheng, Xiaoman Yang, Shuke Nie, Yan Xu, Zhentao Zhang, Stella M. Papa, Keqiang Ye, Xuebing Cao
FRONTIERS IN CELLULAR NEUROSCIENCE
(2018)
Article
Neurosciences
Cong Zheng, Guiqin Chen, Yang Tan, Weiqi Zeng, Qiwei Peng, Ji Wang, Chi Cheng, Xiaoman Yang, Shuke Nie, Yan Xu, Zhentao Zhang, Stella M. Papa, Keqiang Ye, Xuebing Cao
FRONTIERS IN CELLULAR NEUROSCIENCE
(2018)
Article
Geriatrics & Gerontology
Shuke Nie, Yang Tan, Zhentao Zhang, Guiqin Chen, Jing Xiong, Dan Hu, Keqiang Ye, Yunjian Zhang, Xuebing Cao, Liam Chen, Zhaohui Zhang
FRONTIERS IN AGING NEUROSCIENCE
(2018)
Article
Clinical Neurology
Shuke Nie, Kai Ma, Mingkuan Sun, Matthew Lee, Yang Tan, Guiqin Chen, Zhentao Zhang, Zhaohui Zhang, Xuebing Cao
PARKINSONS DISEASE
(2019)
Article
Pharmacology & Pharmacy
Jinlan Li, Min Jia, Guiqin Chen, Shuke Nie, Cong Zheng, Weiqi Zeng, Yan Xu, Congping Wang, Xuebing Cao, Qunhui Liu
BASIC & CLINICAL PHARMACOLOGY & TOXICOLOGY
(2019)
Article
Cell Biology
Aneesh Donde, Mingkuan Sun, Yun Ha Jeong, Xinrui Wen, Jonathan Ling, Sophie Lin, Kerstin Braunstein, Shuke Nie, Sheng Wang, Liam Chen, Philip C. Wong
Article
Cell Biology
Eun Hee Ahn, Seong Su Kang, Xia Liu, Guiqin Chen, Zhentao Zhang, Bindu Chandrasekharan, Ashfaqul M. Alam, Andrew S. Neish, Xuebing Cao, Keqiang Ye
Article
Neurosciences
Cong Zheng, Yan Xu, Guiqin Chen, Yang Tan, Weiqi Zeng, Ji Wang, Chi Cheng, Xiaoman Yang, Shuke Nie, Zhentao Zhang, Xuebing Cao
NEUROBIOLOGY OF DISEASE
(2020)
Article
Biochemistry & Molecular Biology
Mingmin Yan, Lanxia Meng, Lijun Dai, Xingyu Zhang, Guiqin Chen, Yongfa Zheng, Yunhong Zha, Yan Zeng, Zhentao Zhang
BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS
(2020)
Article
Multidisciplinary Sciences
Guiqin Chen, Seong Su Kang, Zhihao Wang, Eun Hee Ahn, Yiyuan Xia, Xia Liu, Ivette M. Sandoval, Fredric P. Manfredsson, Zhaohui Zhang, Keqiang Ye
Summary: The study demonstrates that delta-secretase selectively cleaves UNC5C to enhance its proapoptotic activity, contributing to neurodegeneration in Alzheimer's disease (AD).
Article
Immunology
Kang Zhao, Jucun Huang, Dan Dai, Yuwei Feng, Liming Liu, Shuke Nie
OPEN FORUM INFECTIOUS DISEASES
(2020)