Serebrotendinöz Ksantamotozis ve Görüntüleme Bulguları

Clayton, P.T. (2022) Disorders of Bile Acid Synthesis. In: Saudubray J.-M., Baumgartner M.R., García-Cazorla Á., Walter J.H. (Eds) Inborn Metabolic Diseases Diagnosis and Treatment 7th Edition, Spinger, Heidelberger, https://doi.org/10.1007/978-3-662-63123-2

Appadurai V, DeBarber A, Chiang PW et al. Apparent underdiagnosis of Cerebrotendinous Xanthomatosis revealed by analysis of ~60,000 human exomes. Mol Genet Metab 2015; 116(4):298–304.

Degos B, Nadjar Y, Amador MDM et al. Natural history of cerebrotendinous xanthomatosis:a paediatric disease diagnosed in adulthood. Orphanet J Rare Dis. 2016; 11:41.

Zubarioglu T, Kiykim E, Yesil G, et al. Early diagnosed cerebrotendinous xanthomatosis patients: clinical, neuroradiological characteristics and therapy results of a single center from Turkey. Acta Neurol Belg. 2019;119(3):343-50.

Gong JY, Setchell KDR, Zhao J et al. Severe neonatal cholestasis in cerebrotendinous zanthomatosis: genetics, immunostaining, mass spectrometry. J Pediatr Gastroenterol Nutr 2017; 65:561–568.

Freedman SF, Brennand C, Chiang J et al. Prevalence of Cerebrotendinous xanthomatosis among patients diagnosed with acquired juvenile-onset idiopathic bilateral cataracts. JAMA Ophthalmol. 2019; 256:265–282.

Wevers RA, Cruysberg JRM, van Heijst AFJ et al Paediatric cerebrotendinous xanthomatosis. J Inherit Metab Dis. 1992; 14:374–376.

Kuriyama M, Fujiyama J, Yoshidome H et al. Cerebrotendinous xanthomatosis: clinical features of eight patients and a review of the literature. J Neurol Sci 1991;102:225–232.

Berginer VM, Shany S, Alkalay D et al. Osteoporosis and increased bone fractures in cerebrotendinous xanthomatosis. Metabolism 1993; 42:69–74

Mignarri A, Falcini M, Vella A, et al. Parkinsonism as neurological presentation of late-onset cerebrotendinous xanthomatosis. Parkinsonism Relat Disord. 2012;18(1):99-101.

Larson A, Weisfeld-Adams JD, Benke TA, Bonnen PE. Cerebrotendinous xanthomatosis presenting with infantile spasms and intellectual disability. JIMD Rep. 2017;35:1-5

Duell PB, Salen G, Eichler FS, et al. Diagnosis, treatment, and clinical outcomes in 43 cases with cerebrotendinous xanthomatosis. J Clin Lipidol. 2018;12(5):1169-78.

Nie S, Chen G, Cao X, Zhang Y. Cerebrotendinous xanthomatosis: a comprehensive review of pathogenesis, clinical manifestations, diagnosis, and management. Orphanet J Rare Dis 2014; 9:179–190.

Ginanneschi F, Mignarri A, Mondelli M, et al. Polyneuropathy in cerebrotendinous xanthomatosis and response to treatment with chenodeoxycholic acid. J Neurol. 2013;260(1):268-74.

Fujiyama J, Kuriyama M, Arima S, et al. Atherogenic risk factors in cerebrotendinous xanthomatosis. Clin Chim Acta. 1991;200(1):1-11.

Cruysberg JR. Cerebrotendinous xanthomatosis: juvenile cataract and chronic diarrhea before the onset of neurologic disease. Arch Neurol. 2002; 59(12):1975

Stelten BML, Verrips A, Bonnot O, Huidekoper HH, et al. Austism spectrum disorder: an early and frequent feature in cerebrotendinous xanthomatosis. J Inherit Metab Dis. 2018;41(4):641-6

Fraidakis MJ. Psychiatric manifestations in cerebrotendinous xanthomatosis. Transl Psychiatry. 2013;3:e302

Barkhof F, Verrips A, Wesseling P et-al. Cerebrotendinous xanthomatosis: the spectrum of imaging findings and the correlation with neuropathologic findings. Radiology. 2000;217 (3): 869-76

Ma C, Ren Y, Wang J et al. The Clinical and Imaging Features of Cerebrotendinous Xanthomatosis: A Case Report and Review of the Literature. Medicine (Baltimore). 2021;100(9):e24687

Gerrish A & Gaba S. Case 239: Cerebrotendinous Xanthomatosis. Radiology. 2017;282(3):916-21

Saini S & Bagri N. Cerebrotendinous Xanthomatosis: A Clinical Series Illustrating the Radiological Findings. EMJ Neurol. 2023;11(1):111-9

Nóbrega P, Bernardes A, Ribeiro R et al. Cerebrotendinous Xanthomatosis: A Practice Review of Pathophysiology, Diagnosis, and Treatment. Front Neurol. 2022;13:1049850

Abe R, Sekijima Y, Kinoshita T et al. Spinal Form Cerebrotendinous Xanthomatosis Patient with Long Spinal Cord Lesion. J Spinal Cord Med. 2016;39(6):726-9

Mignarri A, Gallus GN, Dotti MT, Federico A. A suspicion index for early diagnosis and treatment of Cerebrotendinous Xanthomatosis. J Inherit Metab Dis. (2014) 37:421–9. doi: 10.1007/s10545-013-9674-3

Salen, Gerald, and Robert D. Steiner. "Epidemiology, diagnosis, and treatment of cerebrotendinous xanthomatosis (CTX)." Journal of inherited metabolic disease 40 (2017): 771-781.

Verrips, A.; Dotti, M.T.; Mignarri, A.; Stelten, B.M.L.; 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, 943–949.

Batta AK, Shefer S, Batta M, Salen G (1985) Effect of chenodeoxycholic acid on biliary and urinary bile acids and bile alcohols in cerebrotendinous xanthomatosis; monitoring by high performance liquid chromatography. J Lipid Res 26:690–698

Stelten BML, Huidekoper HH, van de Warrenburg BPC, Brilstra EH, Hollak CEM, Haak HR, Kluijtmans LAJ,Wevers RA, Verrips A (2019) Long-term treatment effect in cerebrotendinous xanthomatosis depends on age at treatment start. Neurology 92:e83–e95. https://doi.org/10.1212/wnl.0000000000006731

Ribeiro, Rodrigo Mariano, et al. "Pathophysiology and Treatment of Lipid Abnormalities in Cerebrotendinous Xanthomatosis: An Integrative Review." Brain Sciences 13.7 (2023): 979.