An official website of the United States government
The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before
sharing sensitive information, make sure you’re on a federal
government site.
The site is secure.
The https:// ensures that you are connecting to the
official website and that any information you provide is encrypted
and transmitted securely.
In: Endotext [Internet]. South Dartmouth (MA): MDText.com, Inc.; 2000.
.
Affiliations
Affiliations
1 Division of Pediatric Endocrinology, Department of Pediatrics UT Southwestern Medical Center, Dallas, Texas
2 Diplomate, American Board of Clinical Lipidology, Endowed Chair, Cardiovascular Health and Risk Prevention, Pediatric Endocrinology and Diabetes, Cook Children's Medical Center, Fort Worth, Texas
Book Affiliations
1 Professor of Medicine Emeritus, University of California, San Francisco, CA
2 Chief of Endocrinology and Metabolism at the Richmond Veterans Affairs Medical Center and Professor of Internal Medicine at Virginia Commonwealth University.
3 Developmental Endocrinology Research Group, University of Glasgow, Glasgow, UK
4 Chief of Medicine at the University of Washington Medical Center and Professor and Vice Chair of the Department of Medicine, University of Washington
5 Sr. Physician Scientist, Washington DC VA Medical Center; Professor of Medicine & Rehabilitation Medicine, Georgetown University; Clinical Professor of Medicine, Biochemistry and Molecular Medicine, George Washington University; and Professor of Medicine (Part-time), Johns Hopkins University
6 Professor of Pediatrics and Endocrinology, Division of Endocrinology, Metabolism and Diabetes, First Department of Pediatrics, National and Kapodistrian University of Athens Medical School, "Aghia Sophia" Children's Hospital, Athens, Greece
7 M.D. Ph.D in Gerontology. Honorary Professor of Medicine, Universidad de Alcalá, Madrid. Consultant in Endocrinology, Hospital HLA Guadalajara (Spain).
8 Professor of Endocrine Oncology, Erasmus MC and Erasmus MC Cancer Center, Rotterdam, the Netherlands
9 Consultant in Diabetes, Endocrinology and General Medicine, Norfolk and Norwich University Hospitals NHS Foundation Trust and University of East Anglia, Norwich, UK.
10 Professor of Medicine, Division of Endocrinology, Diabetes, and Metabolism, Ohio State University
11 Consultant Endocrinologist at Fiona Stanley (FSH) and Fremantle Hospitals (FH) in Perth, Western Australia
12 Consultant Endocrinologist, Erasmus MC and Erasmus MC Cancer Center, Rotterdam, the Netherlands
13 Professor of Endocrinology and Chief of the Division of Endocrinology and Metabolism at the University of Virginia School of Medicine.
14 Consultant Endocrinologist, Department of Endocrinology, Bharti Hospital, Karnal, India
15 Professor of General Medicine-Endocrinology, 1st Department of Propaedeutic Medicine, National and Kapodistrian University of Athens, Athens, Greece
16 Professor of Endocrinology, Department of Endocrinology, Diabetes and Metabolism, Christian Medical College & Hospital, Vellore, Tamil Nadu, India, Melbourne School of Population and Global Health, Faculty of Medicine, Dentistry and Health Science, The University of Melbourne, Australia.
17 Clinical Director of the Division of Endocrinology, Diabetes and Hypertension at Brigham and Women’s Hospital and an Assistant Professor of Medicine at Harvard Medical School. 18. Professor, Division of Endocrinology, Diabetes, Metabolism, Department of Medicine, The University of Tennessee Health Science Center, Memphis, TN, and University of Florida, Jacksonville, FL.
18 Professor, The University of Tennessee Health Science Center, Memphis, Tennessee
19 Professor of Medicine and Chief of the Division of Endocrinology, Diabetology and Metabolism, University of Lausanne, Switzerland
20 Professor of Endocrinology and Metabolism, Centre Lead for Endocrinology and Deputy Institute Director, William Harvey Research Institute, Barts and the London School of Medicine and Dentistry, Queen Mary University of London, London, England
21 University Research Professor and Professor of Medicine (Endocrinology and Metabolism), Obstetrics & Gynecology, and BioMedical Sciences, at Memorial University of Newfoundland in St. John’s, Newfoundland, Canada.
22 Director of the Division of Reproductive Endocrinology at Boston Medical Center and an Associate Professor of Obstetrics and Gynecology at the Boston University School of Medicine
23 Professor of Medicine, New York Nutrition Obesity Research Center, Division of Endocrinology, Department of Medicine, Columbia University Irving Medical Center, New York, NY, USA.
24 Consultant endocrinologist at University Hospitals of Leicester and Honorary Associate Professor at Leicester University
25 Professor of Obstetrics and Gynecology at the University of Vermont and Director of the Division of Reproductive Endocrinology and Infertility. Burlington, Vermont
26 Director of Clinical Research, Hudson Institute of Medical Research; Consultant Endocrinologist, Monash Medical Centre, Melbourne, Australia
27 Allan L. Drash Endowed Chair, Chief, Division of Endocrinology and Diabetes, UPMC Children’s Hospital of Pittsburgh, Professor of Pediatrics and Cell Biology, University of Pittsburgh School of Medicine, Pittsburgh, PA
28 Professor of Medicine, Knight Cardiovascular Institute and the Division of Endocrinology, and Associate Director, Bob and Charlee Moore Institute for Nutrition and Wellness, Oregon Health and Science University, Portland, OR
29 Centro de Investigaciones Endocrinológicas “Dr. César Bergadá” (CEDIE), CONICET-FEI-División de Endocrinología, Hospital de Niños Ricardo Gutiérrez, Gallo 1330, C1425EFD Buenos Aires; and Departamento de Histología, Biología Celular, Embriología y Genética, Facultad de Medicina, Universidad de Buenos Aires, C1121ABG Buenos Aires, Argentina
30 Professor and Head of Department of Endocrinology, Osmania Medical College and Osmania General Hospital, Hyderabad, India.
31 Professor of Pediatrics, The University of Cincinnati, Department of Pediatrics and Cincinnati Children’s Hospital Medical Center, Division of Endocrinology, Cincinnati, OH, USA
32 Professorial Lecturer, Division of Pediatric Endocrinology and Diabetes, Icahn School of Medicine at Mount Sinai, New York, NY. Emeritus Professor and Chair, Department of Pediatrics, University of Pittsburgh.
33 CSO, ELPEN, Inc. & Director, Research Institute, Athens, Greece & Senior Investigator, Human Genetics & Precision Medicine, FORTH (ITE), Heraklion, Greece. Emeritus Scientific Director & Senior Investigator, NICHD, NIH, Bethesda, MD, USA
34 Professor of Medicine, Emeritus, University of Washington, Seattle, WA
35 Endowed Chair, Cardiovascular Health and Risk Prevention, Pediatric Endocrinology and Diabetes, Cook Children's Medical Center, Fort Worth, TX
1 Division of Pediatric Endocrinology, Department of Pediatrics UT Southwestern Medical Center, Dallas, Texas
2 Diplomate, American Board of Clinical Lipidology, Endowed Chair, Cardiovascular Health and Risk Prevention, Pediatric Endocrinology and Diabetes, Cook Children's Medical Center, Fort Worth, Texas
Book Affiliations
1 Professor of Medicine Emeritus, University of California, San Francisco, CA
2 Chief of Endocrinology and Metabolism at the Richmond Veterans Affairs Medical Center and Professor of Internal Medicine at Virginia Commonwealth University.
3 Developmental Endocrinology Research Group, University of Glasgow, Glasgow, UK
4 Chief of Medicine at the University of Washington Medical Center and Professor and Vice Chair of the Department of Medicine, University of Washington
5 Sr. Physician Scientist, Washington DC VA Medical Center; Professor of Medicine & Rehabilitation Medicine, Georgetown University; Clinical Professor of Medicine, Biochemistry and Molecular Medicine, George Washington University; and Professor of Medicine (Part-time), Johns Hopkins University
6 Professor of Pediatrics and Endocrinology, Division of Endocrinology, Metabolism and Diabetes, First Department of Pediatrics, National and Kapodistrian University of Athens Medical School, "Aghia Sophia" Children's Hospital, Athens, Greece
7 M.D. Ph.D in Gerontology. Honorary Professor of Medicine, Universidad de Alcalá, Madrid. Consultant in Endocrinology, Hospital HLA Guadalajara (Spain).
8 Professor of Endocrine Oncology, Erasmus MC and Erasmus MC Cancer Center, Rotterdam, the Netherlands
9 Consultant in Diabetes, Endocrinology and General Medicine, Norfolk and Norwich University Hospitals NHS Foundation Trust and University of East Anglia, Norwich, UK.
10 Professor of Medicine, Division of Endocrinology, Diabetes, and Metabolism, Ohio State University
11 Consultant Endocrinologist at Fiona Stanley (FSH) and Fremantle Hospitals (FH) in Perth, Western Australia
12 Consultant Endocrinologist, Erasmus MC and Erasmus MC Cancer Center, Rotterdam, the Netherlands
13 Professor of Endocrinology and Chief of the Division of Endocrinology and Metabolism at the University of Virginia School of Medicine.
14 Consultant Endocrinologist, Department of Endocrinology, Bharti Hospital, Karnal, India
15 Professor of General Medicine-Endocrinology, 1st Department of Propaedeutic Medicine, National and Kapodistrian University of Athens, Athens, Greece
16 Professor of Endocrinology, Department of Endocrinology, Diabetes and Metabolism, Christian Medical College & Hospital, Vellore, Tamil Nadu, India, Melbourne School of Population and Global Health, Faculty of Medicine, Dentistry and Health Science, The University of Melbourne, Australia.
17 Clinical Director of the Division of Endocrinology, Diabetes and Hypertension at Brigham and Women’s Hospital and an Assistant Professor of Medicine at Harvard Medical School. 18. Professor, Division of Endocrinology, Diabetes, Metabolism, Department of Medicine, The University of Tennessee Health Science Center, Memphis, TN, and University of Florida, Jacksonville, FL.
18 Professor, The University of Tennessee Health Science Center, Memphis, Tennessee
19 Professor of Medicine and Chief of the Division of Endocrinology, Diabetology and Metabolism, University of Lausanne, Switzerland
20 Professor of Endocrinology and Metabolism, Centre Lead for Endocrinology and Deputy Institute Director, William Harvey Research Institute, Barts and the London School of Medicine and Dentistry, Queen Mary University of London, London, England
21 University Research Professor and Professor of Medicine (Endocrinology and Metabolism), Obstetrics & Gynecology, and BioMedical Sciences, at Memorial University of Newfoundland in St. John’s, Newfoundland, Canada.
22 Director of the Division of Reproductive Endocrinology at Boston Medical Center and an Associate Professor of Obstetrics and Gynecology at the Boston University School of Medicine
23 Professor of Medicine, New York Nutrition Obesity Research Center, Division of Endocrinology, Department of Medicine, Columbia University Irving Medical Center, New York, NY, USA.
24 Consultant endocrinologist at University Hospitals of Leicester and Honorary Associate Professor at Leicester University
25 Professor of Obstetrics and Gynecology at the University of Vermont and Director of the Division of Reproductive Endocrinology and Infertility. Burlington, Vermont
26 Director of Clinical Research, Hudson Institute of Medical Research; Consultant Endocrinologist, Monash Medical Centre, Melbourne, Australia
27 Allan L. Drash Endowed Chair, Chief, Division of Endocrinology and Diabetes, UPMC Children’s Hospital of Pittsburgh, Professor of Pediatrics and Cell Biology, University of Pittsburgh School of Medicine, Pittsburgh, PA
28 Professor of Medicine, Knight Cardiovascular Institute and the Division of Endocrinology, and Associate Director, Bob and Charlee Moore Institute for Nutrition and Wellness, Oregon Health and Science University, Portland, OR
29 Centro de Investigaciones Endocrinológicas “Dr. César Bergadá” (CEDIE), CONICET-FEI-División de Endocrinología, Hospital de Niños Ricardo Gutiérrez, Gallo 1330, C1425EFD Buenos Aires; and Departamento de Histología, Biología Celular, Embriología y Genética, Facultad de Medicina, Universidad de Buenos Aires, C1121ABG Buenos Aires, Argentina
30 Professor and Head of Department of Endocrinology, Osmania Medical College and Osmania General Hospital, Hyderabad, India.
31 Professor of Pediatrics, The University of Cincinnati, Department of Pediatrics and Cincinnati Children’s Hospital Medical Center, Division of Endocrinology, Cincinnati, OH, USA
32 Professorial Lecturer, Division of Pediatric Endocrinology and Diabetes, Icahn School of Medicine at Mount Sinai, New York, NY. Emeritus Professor and Chair, Department of Pediatrics, University of Pittsburgh.
33 CSO, ELPEN, Inc. & Director, Research Institute, Athens, Greece & Senior Investigator, Human Genetics & Precision Medicine, FORTH (ITE), Heraklion, Greece. Emeritus Scientific Director & Senior Investigator, NICHD, NIH, Bethesda, MD, USA
34 Professor of Medicine, Emeritus, University of Washington, Seattle, WA
35 Endowed Chair, Cardiovascular Health and Risk Prevention, Pediatric Endocrinology and Diabetes, Cook Children's Medical Center, Fort Worth, TX
Cerebrotendinous xanthomatosis is a rare autosomal recessive disorder caused by homozygous or compound heterozygous mutations in the CYP27A1 gene. These patients lack mitochondrial sterol 27-hydroxylase enzyme, which is responsible for conversion of cholesterol to cholic acid and chenodeoxycholic acid (CDCA) in bile acid synthesis pathway. CYP27A1 mutation leads to decreased synthesis of bile acid, excess production of cholestanol, and consequent accumulation of cholestanol in tissues, including brain, leading to progressive neurological dysfunction marked by dementia, spinal cord paresis, and cerebellar ataxia. Deposition in other tissues causes tendon xanthomas, premature atherosclerosis, and cataracts. The clinical manifestations usually start at infancy and develop during the first and second decades of life. The diagnosis of CTX is based on clinical findings, biochemical testing, and neuroimaging. Molecular genetic analysis although not necessary for initiation of treatment, provides definitive confirmation of CTX. Early initiation of CDCA is the treatment of choice for neurological and non-neurological symptoms of CTX and treatment with cholic acid has also been shown to be effective for non-neurological symptoms. For complete coverage of all related areas of Endocrinology, please visit our on-line FREE web-text, WWW.ENDOTEXT.ORG.
Salen G, Steiner RD. Epidemiology, diagnosis, and treatment of cerebrotendinous xanthomatosis (CTX). J Inherit Metab Dis. 2017;40:771–781.
-
PubMed
Chen C, Zhang Y, Wu H, Sun YM, Cai YH, Wu JJ, Wang J, Gong LY, Ding ZT. Clinical and molecular genetic features of cerebrotendinous xanthomatosis patients in Chinese families. Metab Brain Dis. 2017;32:1609–1618.
-
PubMed
Gallus GN, Dotti MT, Federico A. Clinical and molecular diagnosis of cerebrotendinous xanthomatosis with a review of the mutations in the CYP27A1 gene. Neurol Sci. 2006;27:143–149.
-
PubMed
Verrips A, Hoefsloot LH, Steenbergen GC, Theelen JP, Wevers RA, Gabreels FJ, van Engelen BG, van den Heuvel LP. Clinical and molecular genetic characteristics of patients with cerebrotendinous xanthomatosis. Brain. 2000;123(Pt 5):908–919.
-
PubMed
van Bogaert L, Scherer, H.J. and Epstein, E. . Une forme cérébrale de la cholestérinose généralisée. Paris: Masson et Cie.
