Cerebrotendinous Xanthomatosis : A Treatable Rare Neurometabolic Disorder / edited by Antonio Federico, Andrea E. DeBarber, Tzipora C. Falik-Zaccai, Hidde H. Huidekoper, Robert D. Steiner.

Format:

Book

Author/Creator:

Federico, Antonio.

Contributor:

DeBarber, Andrea E.

Falik-Zaccai, Tzipora C.

Huidekoper, Hidde H.

Steiner, Robert D.

Series:

Medicine Series

Language:

English

Subjects (All):

Neurology.

Pediatrics.

Medical genetics.

Internal medicine.

Clinical Genetics.

Internal Medicine.

Local Subjects:

Neurology.

Pediatrics.

Clinical Genetics.

Internal Medicine.

Physical Description:

1 online resource (458 pages)

Edition:

1st ed. 2025.

Place of Publication:

Cham : Springer Nature Switzerland : Imprint: Springer, 2025.

Summary:

This book represents an update on the clinical, biochemical and molecular genetic findings of a rare neurometabolic disorder. Cerebrotendinous xanthomatosis (CTX), first described in 1937, is a rare genetic disorder of bile acid synthesis that can cause developmental and cognitive disability, irreversible neurological damage and premature death. Left untreated, the syndrome is slowly progressive but can now be considered a treatable rare neurologic disease of lipid and bile metabolism. Early identification of this disorder, for example with newborn screening, would be highly significant as the burden of disease if left untreated can be profound, and morbidity and mortality easily prevented through early detection and treatment. The book collects the experience of expert physician-scientists and researchers from all over the world, beginning with the history of the disease and providing updates on the new molecular genetic data, the therapies and the international patient advocacy organizations, also with chapters reporting the experiences of the patients and calling for improved international basic research and clinical collaboration, aiming to advance understanding and enhance outcomes for CTX patients and their families, and foster patient group partnerships. The volume stems from the proceedings of an international meeting held in Jerusalem, Israel, where this disease was investigated for many years by a pioneer in the field, Prof. Vladimir Berginer at the Ben-Gurion University of the Negev. This meeting was hosted by the CTX Alliance, a patient advocacy group based in the USA.

Contents:

1. Cerebrotendinous Xantomatosis (CTX): general review and history of the research on its pathogenesis and therapy

2. CerebroTendinous Xanthomatosis (CTX) in Italy

3. CTX in The Netherlands

4. CTX in Brazil

5. Cerebrotendinous xanthomatosis in France

6.CTX in Japan

7. Cerebrotendinous Xanthomatosis: remaining challenges and the need for international collaboration

8. Genetics of CTX

9. General Overview Biochemistry with Focus on Clinical Laboratory

10. Focus on CTX Cases Identified with Atypical Biochemistry

11.Cholestanol accumulation in the brain and eye in cerebrotendinous xanthomatosis

12. Role of Bile Acid Pathway Intermediates in Pathology of CTX

13. Overview of Neuroimaging in Cerebrotendinous Xanthomatosis Diagnosis

14. Novel tools for neuroimaging in cerebrotendinous xanthomatosis

15. Epidemiology of Cerebrotendinous Xanthomatosis

16. Chenodeoxycholic acid treatment in the italian cohort of CTX patients

17. Long-term treatment effect in CTX depends on age at treatment

18.Can we improve outcomes? Lessons taken from the Israeli CTX Cohort

19. Treatment during Pregnancy in CTX

20. Cerebrotendinous xanthomatosis (CTX) presenting as neonatal cholestasis, its diagnosis and treatment with primary bile acids, cholic and chenodeoxycholic acids

21. Cholic acid treatment in adults with cerebrotendinous xanthomatosis

22. Gene Therapy for CTX

23. CTX Pediatric presentation

24. Ophthalmic manifestation in CTX

25. Update on Newborn Screening for Cerebrotendinous Xanthomatosis

26. Early treatment improves outcomes for patients with cerebrotendinous xanthomatosis (CTX)

27. Cerebrotendinous Xanthomatosis Patient and Family Opinions and International CTX Patient Advocacy.

Notes:

Description based on publisher supplied metadata and other sources.

ISBN:

3-031-92526-2

9783031925269

OCLC:

1546968197