Cerebrotendinous Xanthomatosis (2024)

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  • Gelzo M, Di Taranto MD, Bisecco A, D'Amico A, Capuano R, Giacobbe C, Caputo M, Cirillo M, Tedeschi G, Fortunato G, Corso G. A case of cerebrotendinous xanthomatosis with spinal cord involvement and without tendon xanthomas: identification of a new mutation of the CYP27A1 gene. Acta Neurol Belg. 2021;121:561–6. [PubMed: 31875301]

  • Ginanneschi F, Mignarri A, Mondelli M, Gallus GN, Del Puppo M, Giorgi S, Federico A, Rossi A, Dotti MT. Polyneuropathy in cerebrotendinous xanthomatosis and response to treatment with chenodeoxycholic acid. J Neurol. 2013;260:268–74. [PubMed: 22878431]

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  • Guenzel AJ, DeBarber A, Raymond K, Dhamija R. Familial variability of cerebrotendinous xanthomatosis lacking typical biochemical findings. JIMD Rep. 2021;59:3–9. [PMC free article: PMC8100391] [PubMed: 33977023]

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  • Inglese M, DeStefano N, Pagani E, Dotti MT, Comi G, Federico A, Filippi M. Quantification of brain damage in cerebrotendinous xanthomatosis with magnetization transfer MR imaging. AJNR Am J Neuroradiol. 2003;24:495–500. [PMC free article: PMC7973612] [PubMed: 12637303]

  • Jónsson H, Sulem P, Kehr B, Kristmundsdottir S, Zink F, Hjartarson E, Hardarson MT, Hjorleifsson KE, Eggertsson HP, Gudjonsson SA, Ward LD, Arnadottir GA, Helgason EA, Helgason H, Gylfason A, Jonasdottir A, Jonasdottir A, Rafnar T, Frigge M, Stacey SN, Th Magnusson O, Thorsteinsdottir U, Masson G, Kong A, Halldorsson BV, Helgason A, Gudbjartsson DF, Stefansson K. Parental influence on human germline de novo mutations in 1,548 trios from Iceland. Nature. 2017;549:519–22. [PubMed: 28959963]

  • Khan AO, Aldahmesh MA, Mohamed JY, Alkuraya FS. Juvenile cataract morphology in 3 siblings not yet diagnosed with cerebrotendinous xanthomatosis. Ophthalmology. 2013;120:956–60. [PubMed: 23375591]

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  • Makary MS, Kisanuki YY, Amin NN, Slone HW. Teaching NeuroImages: Cerebrotendinous xanthomatosis: a rare treatable adult-onset lipid storage disease. Neurology. 2018;90:e637–e638. [PubMed: 29440550]

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  • Mignarri A, Dotti MT, Federico A, De Stefano N, Battaglini M, Grazzini I, Galluzzi P, Monti L. The spectrum of magnetic resonance findings in cerebrotendinous xanthomatosis: redefinition and evidence of new markers of disease progression. J Neurol. 2017;264:862–74. [PubMed: 28324197]

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  • Pedroso JL, Pinto WB, Souza PV, Santos LT, Abud IC, Avelino MA, Barsottini OG. Early-onset epilepsy as the main neurological manifestation of cerebrotendinous xanthomatosis. Epilepsy Behav. 2012;24:380–1. [PubMed: 22658436]

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  • Rosini F, Pretegiani E, Mignarri A, Optican LM, Serchi V, De Stefano N, Battaglini M, Monti L, Dotti MT, Federico A, Rufa A. The role of dentate nuclei in human oculomotor control: insights from cerebrotendinous xanthomatosis. J Physiol. 2017;595:3607–20. [PMC free article: PMC5451708] [PubMed: 28168705]

  • Stelten BML, Dotti MT, Verrips A, Elibol B, Falik-Zaccai TC, Hanman K, Mignarri A, Sithole B, Steiner RD, Verma S, Yahalom G, Zubarioglu T, Mochel F, Federico A. Expert opinion on diagnosing, treating and managing patients with cerebrotendinous xanthomatosis (CTX): a modified Delphi study. Orphanet J Rare Dis. 2021a;16:353. [PMC free article: PMC8349076] [PubMed: 34362411]

  • Stelten BML, Raal FJ, Marais AD, Riksen NP, Roeters van Lennep JE, Duell PB, van der Graaf M, Kluijtmans LAJ, Wevers RA, Verrips A. Cerebrotendinous xanthomatosis without neurological involvement. J Intern Med. 2021b;290:1039–47. [PubMed: 33830582]

  • Stelten BML, van de Warrenburg BPC, Wevers RA, Verrips A. Movement disorders in cerebrotendinous xanthomatosis. Parkinsonism Relat Disord. 2019;58:12–16. [PubMed: 30054180]

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  • Verrips A, Dotti MT, Mignarri A, Stelten BML, Verma S, Federico A. The safety and effectiveness of chenodeoxycholic acid treatment in patients with cerebrotendinous xanthomatosis: two retrospective cohort studies. Neurol Sci. 2020;41:943–9. [PMC free article: PMC7160076] [PubMed: 31863326]

  • Verrips A, van Engelen BG, ter Laak H, Gabreels-Festen A, Janssen A, Zwarts M, Wevers RA, Gabreels FJ. Cerebrotendinous xanthomatosis. Controversies about nerve and muscle: observations in ten patients. Neuromuscul Disord. 2000a;10:407–14. [PubMed: 10899446]

  • Verrips A, van Engelen BG, Wevers RA, van Geel BM, Cruysberg JR, van den Heuvel LP, Keyser A, Gabreels FJ. Presence of diarrhea and absence of tendon xanthomas in patients with cerebrotendinous xanthomatosis. Arch Neurol. 2000b;57:520–4. [PubMed: 10768627]

  • von Bahr S, Björkhem I, Van't Hooft F, Alvelius G, Nemeth A, Sjövall J, Fischler B. Mutation in the sterol 27-hydroxylase gene associated with fatal cholestasis in infancy. J Pediatr Gastroenterol Nutr. 2005;40:481–6. [PubMed: 15795599]

  • Zhang P, Zhao J, Peng XM, Qian YY, Zhao XM, Zhou WH, Wang JS, Wu BB, Wang HJ. Cholestasis as a dominating symptom of patients with CYP27A1 mutations: an analysis of 17 Chinese infants. J Clin Lipidol. 2021;15:116–23. [PubMed: 33414089]

  • Zhang S, Li W, Zheng R, Zhao B, Zhang Y, Zhao D, Zhao C, Yan C, Zhao Y. Cerebrotendinous xanthomatosis with peripheral neuropathy: a clinical and neurophysiological study in Chinese population. Ann Transl Med. 2020;8:1372. [PMC free article: PMC7723652] [PubMed: 33313117]

  • Cerebrotendinous Xanthomatosis (2024)

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