Cali JJ, Hsieh CL, Francke U, Russell DW: Mutations in the bile acid biosynthetic enzyme sterol 27-hydroxylase underlie cerebrotendinous xanthomatosis. J Biol Chem. 1991, 266: 7779-7783.
CAS
PubMed
PubMed Central
Google Scholar
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.
CAS
PubMed
Google Scholar
Bjorkhem I, Hansson M: Cerebrotendinous xanthomatosis: an inborn error in bile acid synthesis with defined mutations but still a challenge. Biochem Biophys Res Commun. 2010, 396: 46-49.
PubMed
Google Scholar
Lorincz MT, Rainier S, Thomas D, Fink JK: Cerebrotendinous xanthomatosis - Possible higher prevalence than previously recognized. Arch Neurol. 2005, 62: 1459-1463.
PubMed
Google Scholar
Pilo-de-la-Fuente B, Jimenez-Escrig A, Lorenzo JR, Pardo J, Arias M, Ares-Luque A, Duarte J, Muniz-Perez S, Sobrido MJ: Cerebrotendinous xanthomatosis in Spain: clinical, prognostic, and genetic survey. Eur J Neurol. 2011, 18: 1203-1211.
CAS
PubMed
Google Scholar
Setoguchi T, Salen G, Tint GS, Mosbach EH: A biochemical abnormality in cerebrotendinous xanthomatosis. Impairment of bile acid biosynthesis associated with incomplete degradation of the cholesterol side chain. J Clin Invest. 1974, 53: 1393-1401.
CAS
PubMed
PubMed Central
Google Scholar
Russell DW: The enzymes, regulation, and genetics of bile acid synthesis. Annu Rev Biochem. 2003, 72: 137-174.
CAS
PubMed
Google Scholar
Lorbek G, Lewinska M, Rozman D: Cytochrome P450s in the synthesis of cholesterol and bile acids - from mouse models to human diseases. Febs J. 2012, 279: 1516-1533.
CAS
PubMed
Google Scholar
Duane WC, Javitt NB: 27-hydroxycholesterol: production rates in normal human subjects. J Lipid Res. 1999, 40: 1194-1199.
CAS
PubMed
Google Scholar
Chales G, Coiffier G, Guggenbuhl P: Miscellaneous non-inflammatory musculoskeletal conditions. Rare thesaurismosis and xanthomatosis. Best Pract Res Clin Rheumatol. 2011, 25: 683-701.
CAS
PubMed
Google Scholar
Skrede S, Bjorkhem I, Buchmann MS, Hopen G, Fausa O: A novel pathway for biosynthesis of cholestanol with 7 alpha-hydroxylated C27-steroids as intermediates, and its importance for the accumulation of cholestanol in cerebrotendinous xanthomatosis. J Clin Invest. 1985, 75: 448-455.
CAS
PubMed
PubMed Central
Google Scholar
Panzenboeck U, Andersson U, Hansson M, Sattler W, Meaney S, Bjorkhem I: On the mechanism of cerebral accumulation of cholestanol in patients with cerebrotendinous xanthomatosis. J Lipid Res. 2007, 48: 1167-1174.
CAS
PubMed
Google Scholar
Keren Z, Falik-Zaccai TC: Cerebrotendinous xanthomatosis (CTX): a treatable lipid storage disease. Pediatr Endocrinol Rev. 2009, 7: 6-11.
PubMed
Google Scholar
van Heijst AFJ, Verrips A, Wevers RA, Cruysberg JRM, Renier WO, Tolboom JJM: Treatment and follow-up of children with cerebrotendinous xanthomatosis. Eur J Pediatr. 1998, 157: 313-316.
CAS
PubMed
Google Scholar
Cruysberg JR, Wevers RA, Tolboom JJ: Juvenile cataract associated with chronic diarrhea in pediatric cerebrotendinous xanthomatosis. Am J Ophthalmol. 1991, 112: 606-607.
CAS
PubMed
Google Scholar
Guyant-Marechal L, Verrips A, Girard C, Wevers RA, Zijlstra F, Sistermans E, Vera P, Campion D, Hannequin D: Unusual cerebrotendinous xanthomatosis with fronto-temporal dementia phenotype. Am J Med Genet A. 2005, 139A: 114-117.
CAS
PubMed
Google Scholar
Sedel F, Baumann N, Turpin JC, Lyon-Caen O, Saudubray JM, Cohen D: Psychiatric manifestations revealing inborn errors of metabolism in adolescents and adults. J Inherit Metab Dis. 2007, 30: 631-641.
CAS
PubMed
Google Scholar
Kalidas K, Behrouz R: Inherited metabolic disorders and cerebral infarction. Expert Rev Neurother. 2008, 8: 1731-1741.
CAS
PubMed
Google Scholar
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: 380-381.
PubMed
Google Scholar
Ohno T, Kobayashi S, Hayashi M, Sakurai M, Kanazawa I: Diphenylpyraline-responsive parkinsonism in cerebrotendinous xanthomatosis: long-term follow up of three patients. J Neurol Sci. 2001, 182: 95-97.
CAS
PubMed
Google Scholar
Federico A, Dotti MT: Cerebrotendinous xanthomatosis: clinical manifestations, diagnostic criteria, pathogenesis, and therapy. J Child Neurol. 2003, 18: 633-638.
PubMed
Google Scholar
Moghadasian MH, Salen G, Frohlich JJ, Scudamore CH: Cerebrotendinous xanthomatosis: a rare disease with diverse manifestations. Arch Neurol. 2002, 59: 527-529.
PubMed
Google Scholar
Berginer VM, Salen G, Shefer S: Long-term treatment of cerebrotendinous xanthomatosis with chenodeoxycholic acid. N Engl J Med. 1984, 311: 1649-1652.
CAS
PubMed
Google Scholar
Chen Q, Liu W, Jiang B, Yu R, Li X, Li H: Fluoxetine-responsive depression in a Chinese cerebrotendinous xanthomatosis. Gen Hosp Psychiatry. 2012, 34 (578): e571-e574.
Google Scholar
Lee Y, Lin PY, Chiu NM, Chang WN, Wen JK: Cerebrotendinous xanthomatosis with psychiatric disorders: report of three siblings and literature review. Chang Gung Med J. 2002, 25: 334-340.
PubMed
Google Scholar
Lagarde J, Roze E, Apartis E, Pothalil D, Sedel F, Couvert P, Vidailhet M, Degos B: Myoclonus and dystonia in cerebrotendinous xanthomatosis. Mov Disord. 2012, 27: 1805-1810.
PubMed
Google Scholar
Cruysberg JR, Wevers RA, van Engelen BG, Pinckers A, van Spreeken A, Tolboom JJ: Ocular and systemic manifestations of cerebrotendinous xanthomatosis. Am J Ophthalmol. 1995, 120: 597-604.
CAS
PubMed
Google Scholar
Dotti MT, Mondillo S, Plewnia K, Agricola E, Federico A: Cerebrotendinous xanthomatosis: evidence of lipomatous hypertrophy of the atrial septum. J Neurol. 1998, 245: 723-726.
CAS
PubMed
Google Scholar
Bjorkhem I, Andersson O, Diczfalusy U, Sevastik B, Xiu RJ, Duan C, Lund E: Atherosclerosis and sterol 27-hydroxylase: evidence for a role of this enzyme in elimination of cholesterol from human macrophages. Proc Natl Acad Sci U S A. 1994, 91: 8592-8596.
CAS
PubMed
PubMed Central
Google Scholar
Weingartner O, Laufs U, Bohm M, Lutjohann D: An alternative pathway of reverse cholesterol transport: the oxysterol 27-hydroxycholesterol. Atherosclerosis. 2010, 209: 39-41.
PubMed
Google Scholar
Kuriyama M, Fujiyama J, Kubota R, Nakagawa M, Osame M: Osteoporosis and increased bone fractures in cerebrotendinous xanthomatosis. Metabolism. 1993, 42: 1497-1498.
CAS
PubMed
Google Scholar
Martini G, Mignarri A, Ruvio M, Valenti R, Franci B, Del Puppo M, Federico A, Nuti R, Dotti MT: Long-term bone density evaluation in cerebrotendinous xanthomatosis: evidence of improvement after chenodeoxycholic acid treatment. Calcif Tissue Int. 2013, 92: 282-286.
CAS
PubMed
Google Scholar
Federico A, Dotti MT, Lore F, Nuti R: Cerebrotendinous xanthomatosis: pathophysiological study on bone metabolism. J Neurol Sci. 1993, 115: 67-70.
CAS
PubMed
Google Scholar
Kawabata M, Kuriyama M, Mori S, Sakashita I, Osame M: Pulmonary manifestations in cerebrotendinous xanthomatosis. Intern Med. 1998, 37: 922-926.
CAS
PubMed
Google Scholar
Dormans TP, Verrips A, Bulten J, Cox N: Pulmonary lymphangioleiomyomatosis and cerebrotendinous xanthomatosis: is there a link?. Chest. 1997, 112: 273-274.
CAS
PubMed
Google Scholar
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. 2000, 57: 520-524.
CAS
PubMed
Google Scholar
van Heijst AF, Wevers RA, Tangerman A, Cruysberg JR, Renier WO, Tolboom JJ: Chronic diarrhea as a dominating symptom in two children with cerebrotendinous xanthomatosis. Acta Paediatr (Oslo, Norway: 1992). 1996, 85: 932-936.
CAS
Google Scholar
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: 421-429.
CAS
PubMed
Google Scholar
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: 268-274.
CAS
PubMed
Google Scholar
Ben Hamida M, Chabbi N, Ben Hamida C, Mhiri C, Kallel R: [Peripheral neuropathy in a sporadic case of cerebrotendinous xanthomatosis]. Neuropathie peripherique dans un cas sporadique de xanthomatose cerebrotendineuse. Rev Neurol. 1991, 147: 385-388.
CAS
PubMed
Google Scholar
Federico A, Dotti MT, Volpi N: Muscle mitochondrial changes in cerebrotendinous xanthomatosis. Ann Neurol. 1991, 30: 734-735.
CAS
PubMed
Google Scholar
Federico A, Dotti MT: Cerebrotendinous xanthomatosis. Neurology. 2001, 57: 1743-
CAS
PubMed
Google Scholar
DeBarber AE, Luo J, Giugliani R, Souza CFM, Chiang JP-W, Merkens LS, Pappu AS, Steiner RD: A useful multi-analyte blood test for cerebrotendinous xanthomatosis. Clin Biochem. 2014, 47: 860-863.
CAS
PubMed
PubMed Central
Google Scholar
Mignarri A, Rossi S, Ballerini M, Gallus GN, Del Puppo M, Galluzzi P, Federico A, Dotti MT: Clinical relevance and neurophysiological correlates of spasticity in cerebrotendinous xanthomatosis. J Neurol. 2011, 258: 783-790.
CAS
PubMed
Google Scholar
Pilo B, de Blas G, Sobrido MJ, Navarro C, Grandas F, Barrero FJ, Moya MA, Jimenez-Escrig A: Neurophysiological study in cerebrotendinous xanthomatosis. Muscle Nerve. 2011, 43: 531-536.
CAS
PubMed
Google Scholar
Chen S-F, Tsai N-W, Chang C-C, Lu C-H, Huang C-R, Chuang Y-C, Chang W-N: Neuromuscular abnormality and autonomic dysfunction in patients with cerebrotendinous xanthomatosis. BMC Neurol. 2011, 11: 63-
PubMed
PubMed Central
Google Scholar
Mondelli M, Rossi A, Scarpini C, Dotti MT, Federico A: Evoked potentials in cerebrotendinous xanthomatosis and effect induced by chenodeoxycholic acid. Arch Neurol. 1992, 49: 469-475.
CAS
PubMed
Google Scholar
Vanrietvelde F, Lemmerling M, Mespreuve M, Crevits L, De Reuck J, Kunnen M: MRI of the brain in cerebrotendinous xanthomatosis (van Bogaert-Scherer-Epstein disease). Eur Radiol. 2000, 10: 576-578.
CAS
PubMed
Google Scholar
Mignarri A, Dotti MT, Del Puppo M, Gallus GN, Giorgio A, Cerase A, Monti L: Cerebrotendinous xanthomatosis with progressive cerebellar vacuolation: six-year MRI follow-up. Neuroradiology. 2012, 54: 649-651.
PubMed
Google Scholar
Mehta BP, Shmerling RH: Teaching neuroimage: cerebrotendinous xanthomatosis. Neurology. 2008, 71: e4-
PubMed
Google Scholar
De Stefano N, Dotti MT, Mortilla M, Federico A: Magnetic resonance imaging and spectroscopic changes in brains of patients with cerebrotendinous xanthomatosis. Brain: J Neurol. 2001, 124: 121-131.
CAS
Google Scholar
Barkhof F, Verrips A, Wesseling P, van Der Knaap MS, van Engelen BG, Gabreels FJ, Keyser A, Wevers RA, Valk J: Cerebrotendinous xanthomatosis: the spectrum of imaging findings and the correlation with neuropathologic findings. Radiology. 2000, 217: 869-876.
CAS
PubMed
Google Scholar
Clemen CS, Spottke EA, Lutjohann D, Urbach H, von Bergmann K, Klockgether T, Dodel R: Cerebrotendinous xanthomatosis: a treatable ataxia. Neurology. 2005, 64: 1476-
CAS
PubMed
Google Scholar
Chang C-C, Lui C-C, Wang J-J, Huang S-H, Lu C-H, Chen C, Chen C-F, Tu M-C, Huang C-W, Chang W-N: Multi-parametric neuroimaging evaluation of cerebrotendinous xanthomatosis and its correlation with neuropsychological presentations. BMC Neurol. 2010, 10: 59-
PubMed
PubMed Central
Google Scholar
Guerrera S, Stromillo ML, Mignarri A, Battaglini M, Marino S, Di Perri C, Federico A, Dotti MT, De Stefano N: Clinical relevance of brain volume changes in patients with cerebrotendinous xanthomatosis. J Neurol Neurosurg Psychiatry. 2010, 81: 1189-1193.
CAS
PubMed
Google Scholar
Le Bihan D: Looking into the functional architecture of the brain with diffusion MRI. Nat Rev Neurosci. 2003, 4: 469-480.
CAS
PubMed
Google Scholar
Embirucu EK, Otaduy MCG, Taneja AK, Leite CC, Kok F, Lucato LT: MR spectroscopy detects lipid peaks in cerebrotendinous xanthomatosis. AJNR Am J Neuroradiol. 2010, 31: 1347-1349.
CAS
PubMed
Google Scholar
Seidel S, Kasprian G, Prayer D, Krssak M, Sycha T, Auff E: Visualisation of treatment response in a case of cerebrotendinous xanthomatosis. J Neurol Neurosurg Psychiatry. 2011, 82: 703-704.
PubMed
Google Scholar
Caroppo P, D’Agata F, Mignarri A, Stromillo ML, Dotti MT, Mongini T: Brain metabolism changes after therapy with chenodeoxycholic acid in a case of cerebrotendinous xanthomatosis. Neurol Sci: Offic J Ital Neurol Soc Ital Soc Clin Neurophysiol. 2013, 34: 1693-1696.
Google Scholar
Selva-O’Callaghan A, Bardes I, Jacas C, Jubany L, Lorenzo-Bosquet C, Cuberas-Borros G, Vilardell-Tarres M: SPECT imaging for brain improvement quantification in a patient with cerebrotendinous xanthomatosis. Clin Nucl Med. 2011, 36: 38-39.
PubMed
Google Scholar
Schotsmans K, De Cauwer H, Baets J, Ceyssens S, van den Hauwe L, Deconinck T, Helsen G: Cerebrotendinous xanthomatosis presenting with asymmetric parkinsonism: a case with I-123-FP-CIT SPECT imaging. Acta Neurol Belg. 2012, 112: 287-289.
PubMed
Google Scholar
Chen S-F, Chang C-C, Huang S-H, Lu C-H, Chuang Y-C, Pan T-L, Chang W-N: 99mTc-sestamibi thigh SPECT/CT imaging for assessment of myopathy in cerebrotendinous xanthomatosis with histopathological and immunohistochemical correlation. Clin Nucl Med. 2014, 39: e202-e207.
PubMed
Google Scholar
Kuwabara K, Hitoshi S, Nukina N, Ishii K, Momose T, Kubota S, Seyama Y, Kanazawa I: PET analysis of a case of cerebrotendinous xanthomatosis presenting hemiparkinsonism. J Neurol Sci. 1996, 138: 145-149.
CAS
PubMed
Google Scholar
Pilo de la Fuente B, Ruiz I, Lopez de Munain A, Jimenez-Escrig A: Cerebrotendinous xanthomatosis: neuropathological findings. J Neurol. 2008, 255: 839-842.
CAS
PubMed
Google Scholar
Soffer D, Benharroch D, Berginer V: The neuropathology of cerebrotendinous xanthomatosis revisited: a case report and review of the literature. Acta Neuropathol. 1995, 90: 213-220.
CAS
PubMed
Google Scholar
Kato H, Koyabu S, Aoki S, Tamai T, Sugawa M, Watanabe M, Shiraishi T: An autopsy case of gallbladder cancer developing in a Japanese man with cerebrotendinous xanthomatosis: genetic analysis of the sterol 27-hydroxylase and p53 genes. Pathology. 2003, 35: 141-144.
CAS
PubMed
Google Scholar
Van Bogaert L: [The framework of the xanthomatoses and their different types. 2. Secondary xanthomatoses]. Rev Med Liege. 1962, 17: 433-443.
CAS
PubMed
Google Scholar
Voiculescu V, Alexianu M, Popescu-Tismana G, Pastia M, Petrovici A, Dan A: Polyneuropathy with lipid deposits in Schwann cells and axonal degeneration in cerebrotendinous xanthomatosis. J Neurol Sci. 1987, 82: 89-99.
CAS
PubMed
Google Scholar
Ohnishi A, Yamashita Y, Goto I, Kuroiwa Y, Murakami S, Ikeda M: De- and remyelination and onion bulb in cerebrotendinous xanthomatosis. Acta Neuropathol. 1979, 45: 43-45.
CAS
PubMed
Google Scholar
Tian D, Zhang Z-Q: 2 Novel deletions of the sterol 27-hydroxylase gene in a Chinese family with cerebrotendinous xanthomatosis. BMC Neurol. 2011, 11: 130-
CAS
PubMed
PubMed Central
Google Scholar
Schimschock JR, Alvord EC, Swanson PD: Cerebrotendinous xanthomatosis. Clinical and pathological studies. Arch Neurol. 1968, 18: 688-698.
CAS
PubMed
Google Scholar
Schneider H, Lingesleben A, Vogel H-P, Garuti R, Calandra S: A novel mutation in the sterol 27-hydroxylase gene of a woman with autosomal recessive cerebrotendinous xanthomatosis. Orphanet J Rare Dis. 2010, 5: 27-
PubMed
PubMed Central
Google Scholar
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: NMD. 2000, 10: 407-414.
CAS
PubMed
Google Scholar
Diekstra FP, Saris CGJ, van Rheenen W, Franke L, Jansen RC, van Es MA, van Vught PWJ, Blauw HM, Groen EJN, Horvath S, Estrada K, Rivadeneira F, Hofman A, Uitterlinden AG, Robberecht W, Andersen PM, Melki J, Meininger V, Hardiman O, Landers JE, Brown RH, Shatunov A, Shaw CE, Leigh PN, Al-Chalabi A, Ophoff RA, van den Berg LH, Veldink JH: Mapping of gene expression reveals CYP27A1 as a susceptibility gene for sporadic ALS. PLoS One. 2012, 7: e35333-
CAS
PubMed
PubMed Central
Google Scholar
Bjorkhem I: Cerebrotendinous xanthomatosis. Curr Opin Lipidol. 2013, 24: 283-287.
PubMed
Google Scholar
Tsubakio-Yamamoto K, Nishida M, Nakagawa-Toyama Y, Masuda D, Ohama T, Yamashita S: Current therapy for patients with sitosterolemia-effect of ezetimibe on plant sterol metabolism. J Atheroscler Thromb. 2010, 17: 891-900.
CAS
PubMed
Google Scholar
Niu DM, Chong KW, Hsu JH, Wu TJ, Yu HC, Huang CH, Lo MY, Kwok CF, Kratz LE, Ho LT: Clinical observations, molecular genetic analysis, and treatment of sitosterolemia in infants and children. J Inherit Metab Dis. 2010, 33: 437-443.
CAS
PubMed
Google Scholar
Patel SB, Salen G, Hidaka H, Kwiterovich PO, Stalenhoef AFH, Miettinen TA, Grundy SM, Lee MH, Rubenstein JS, Polymeropoulos MH, Brownstein MJ: Mapping a gene involved in regulating dietary cholesterol absorption - The sitosterolemia locus is found at chromosome 2p21. J Clin Investig. 1998, 102: 1041-1044.
CAS
PubMed
PubMed Central
Google Scholar
Escola-Gil JC, Quesada H, Julve J, Martin-Campos JM, Cedo L, Blanco-Vaca F: Sitosterolemia: diagnosis, investigation, and management. Curr Atheroscler Rep. 2014, 16: 424-
PubMed
Google Scholar
Bhattacharyya AK, Connor WE: Beta-sitosterolemia and xanthomatosis. A newly described lipid storage disease in two sisters. J Clin Invest. 1974, 53: 1033-1043.
CAS
PubMed
PubMed Central
Google Scholar
Merkens LS, Myrie SB, Steiner RD, Mymin D: Sitosterolemia. In GeneReviews(R). Edited by Pagon RA, Adam MP, Ardinger HH, Bird TD, Dolan CR, Fong CT, Smith RJH, Stephens K, Pagon RA, Adam MP, Ardinger HH, Bird TD, Dolan CR, Fong CT, Smith RJH, Stephens K. Seattle (WA): 1993.
Wang Z, Cao L, Su Y, Wang G, Wang R, Yu Z, Bai X, Ruan C: Specific macrothrombocytopenia/hemolytic anemia associated with sitosterolemia. Am J Hematol. 2014, 89: 320-324.
CAS
PubMed
Google Scholar
Salen G, von Bergmann K, Lutjohann D, Kwiterovich P, Kane J, Patel SB, Musliner T, Stein P, Musser B: Ezetimibe effectively reduces plasma plant sterols in patients with sitosterolemia. Circulation. 2004, 109: 966-971.
CAS
PubMed
PubMed Central
Google Scholar
Teramoto T, Sasaki J, Ishibashi S, Birou S, Daida H, Dohi S, Egusa G, Hiro T, Hirobe K, Iida M, Kihara S, Kinoshita M, Maruyama C, Ohta T, Okamura T, Yamashita S, Yokode M, Yokote K, Harada-Shiba M, Arai H, Bujo H, Nohara A, Ohta T, Oikawa S, Okada T, Wakatsuki A: Familial hypercholesterolemia. J Atheroscler Thromb. 2014, 21: 6-10.
PubMed
Google Scholar
Rader DJ, Cohen J, Hobbs HH: Monogenic hypercholesterolemia: new insights in pathogenesis and treatment. J Clin Invest. 2003, 111: 1795-1803.
CAS
PubMed
PubMed Central
Google Scholar
Cruz PD, East C, Bergstresser PR: Dermal, subcutaneous, and tendon xanthomas: diagnostic markers for specific lipoprotein disorders. J Am Acad Dermatol. 1988, 19: 95-111.
PubMed
Google Scholar
Robinson JG, Goldberg AC: Treatment of adults with familial hypercholesterolemia and evidence for treatment: recommendations from the National Lipid Association Expert Panel on Familial Hypercholesterolemia. J Clin Lipidol. 2011, 5: S18-S29.
PubMed
Google Scholar
Heubi JE, Setchell KD, Bove KE: Inborn errors of bile acid metabolism. Semin Liver Dis. 2007, 27: 282-294.
CAS
PubMed
Google Scholar
Clayton PT, Leonard JV, Lawson AM, Setchell KD, Andersson S, Egestad B, Sjovall J: Familial giant cell hepatitis associated with synthesis of 3 beta, 7 alpha-dihydroxy-and 3 beta,7 alpha, 12 alpha-trihydroxy-5-cholenoic acids. J Clin Invest. 1987, 79: 1031-1038.
CAS
PubMed
PubMed Central
Google Scholar
Setchell KD, Heubi JE, Bove KE, O’Connell NC, Brewsaugh T, Steinberg SJ, Moser A, Squires RH: Liver disease caused by failure to racemize trihydroxycholestanoic acid: gene mutation and effect of bile acid therapy. Gastroenterology. 2003, 124: 217-232.
PubMed
Google Scholar
Lionnet C, Carra C, Ayrignac X, Levade T, Gayraud D, Castelnovo G, Besson G, Androdias G, Vukusic S, Confavreux C, Zaenker C, De Seze J, Collongues N, Blanc F, Tranchant C, Wallon D, Hannequin D, Gerdelat-Mas A, Brassat D, Clanet M, Zephir H, Outteryck O, Vermersch P, Labauge P: [Cerebrotendinous xanthomatosis: a multicentric retrospective study of 15 adults, clinical and paraclinical typical and atypical aspects]. Rev Neurol (Paris). 2014, 170: 445-453.
CAS
Google Scholar
Bjorkhem I, Skrede S, Buchmann MS, East C, Grundy S: Accumulation of 7 alpha-hydroxy-4-cholesten-3-one and cholesta-4,6-dien-3-one in patients with cerebrotendinous xanthomatosis: effect of treatment with chenodeoxycholic acid. Hepatology. 1987, 7: 266-271.
CAS
PubMed
Google Scholar
Gallus GN, Dotti MT, Mignarri A, Rufa A, Da Pozzo P, Cardaioli E, Federico A: Four novel CYP27A1 mutations in seven Italian patients with CTX. Eur J Neurol. 2010, 17: 1259-1262.
CAS
PubMed
Google Scholar
Verrips A, Wevers RA, Van Engelen BG, Keyser A, Wolthers BG, Barkhof F, Stalenhoef A, De Graaf R, Janssen-Zijlstra F, Van Spreeken A, Gabreels FJ: Effect of simvastatin in addition to chenodeoxycholic acid in patients with cerebrotendinous xanthomatosis. Metabolism. 1999, 48: 233-238.
CAS
PubMed
Google Scholar
Pierre G, Setchell K, Blyth J, Preece MA, Chakrapani A, McKiernan P: Prospective treatment of cerebrotendinous xanthomatosis with cholic acid therapy. J Inherit Metab Dis. 2008, 31 (Suppl 2): S241-S245.
PubMed
Google Scholar
Koopman BJ, Wolthers BG, van der Molen JC, Waterreus RJ: Bile acid therapies applied to patients suffering from cerebrotendinous xanthomatosis. Clin Chim Acta. 1985, 152: 115-122.
CAS
PubMed
Google Scholar
Setchell KDR, Heubi JE: Defects in bile acid biosynthesis–diagnosis and treatment. J Pediatr Gastroenterol Nutr. 2006, 43 (Suppl 1): S17-S22.
CAS
PubMed
Google Scholar
Kuriyama M, Tokimura Y, Fujiyama J, Utatsu Y, Osame M: Treatment of cerebrotendinous xanthomatosis: effects of chenodeoxycholic acid, pravastatin, and combined use. J Neurol Sci. 1994, 125: 22-28.
CAS
PubMed
Google Scholar
Federico A, Dotti MT: Treatment of cerebrotendinous xanthomatosis. Neurology. 1994, 44: 2218-
CAS
PubMed
Google Scholar
Mimura Y, Kuriyama M, Tokimura Y, Fujiyama J, Osame M, Takesako K, Tanaka N: Treatment of cerebrotendinous xanthomatosis with low-density lipoprotein (LDL)-apheresis. J Neurol Sci. 1993, 114: 227-230.
CAS
PubMed
Google Scholar
Su C-S, Chang W-N, Huang S-H, Lui C-C, Pan T-L, Lu C-H, Chuang Y-C, Huang C-R, Tsai N-W, Hsieh M-J, Chang C-C: Cerebrotendinous xanthomatosis patients with and without parkinsonism: clinical characteristics and neuroimaging findings. Mov Disord: Offic J Mov Disord Soc. 2010, 25: 452-458.
Google Scholar
Lagarde J, Sedel F, Degos B: Blepharospasm as a new feature of cerebrotendinous xanthomatosis. Parkinsonism Relat Disord. 2013, 19: 764-765.
PubMed
Google Scholar
Yahalom G, Tsabari R, Molshatzki N, Ephraty L, Cohen H, Hassin-Baer S: Neurological outcome in cerebrotendinous xanthomatosis treated with chenodeoxycholic acid: early versus late diagnosis. Clin Neuropharmacol. 2013, 36: 78-83.
CAS
PubMed
Google Scholar
Rosen H, Reshef A, Maeda N, Lippoldt A, Shpizen S, Triger L, Eggertsen G, Bjorkhem I, Leitersdorf E: Markedly reduced bile acid synthesis but maintained levels of cholesterol and vitamin D metabolites in mice with disrupted sterol 27-hydroxylase gene. J Biol Chem. 1998, 273: 14805-14812.
CAS
PubMed
Google Scholar