{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,8,29]],"date-time":"2025-08-29T09:57:50Z","timestamp":1756461470713},"reference-count":12,"publisher":"BMJ","issue":"5","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Journal of Neurology, Neurosurgery & Psychiatry"],"published-print":{"date-parts":[[1996,5,1]]},"DOI":"10.1136\/jnnp.60.5.582","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T22:20:59Z","timestamp":1226355659000},"page":"582-585","source":"Crossref","is-referenced-by-count":14,"title":["Cerebrotendinous xanthomatosis without tendon xanthomas mimicking Marinesco-Sjoegren syndrome: a case report."],"prefix":"10.1136","volume":"60","author":[{"given":"H R","family":"Siebner","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S","family":"Berndt","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"B","family":"Conrad","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","reference":[{"key":"ref_1","first-page":"295","article-title":"The molecular and genetic basis of neurological disease","author":"Berginer, V.M.","year":"1993","unstructured":"Berginer VM, Salen G, Shefer S. Cerebrotendinous xanthomatosis. In: Rosenberg RN, Prusiner S, DiMauro S, et al, eds. The molecular and genetic basis of neurological disease, London: Butterworths, 1993:295-305."},{"key":"ref_2","article-title":"Cerebrotendinous xanthomatosis can be treated with chenodeoxycholic acid.6 1' Due to inhibition of abnormal hepatic bile acid synthesis, chenodeoxycholic acid normalises biochemical abnormalities and has been clinically effective.61' It has not been established if a combined treatment with chenodeoxycholic acid and HMG-CoA-reductase inhibitors would be more effective than treatment with chenodeoxycholic acid alone. '4l Most authors emphasise that early diagnosis of cerebrotendinous xanthomatosis is mandatory to prevent irreversible damage of the nervous system","volume-title":"The clinical features of cerebrotendinous xanthomatosis without tendon xanthomas strongly resemble Marinesco-Sjoegren syndrome, first described in 1931 in four Rumanian siblings","volume":"3","year":"\"1\" # \"14\"","unstructured":"Cerebrotendinous xanthomatosis can be treated with chenodeoxycholic acid.6 1' Due to inhibition of abnormal hepatic bile acid synthesis, chenodeoxycholic acid normalises biochemical abnormalities and has been clinically effective.61' It has not been established if a combined treatment with chenodeoxycholic acid and HMG-CoA-reductase inhibitors would be more effective than treatment with chenodeoxycholic acid alone. '4l Most authors emphasise that early diagnosis of cerebrotendinous xanthomatosis is mandatory to prevent irreversible damage of the nervous system. 1 3 14 The clinical features of cerebrotendinous xanthomatosis without tendon xanthomas strongly resemble Marinesco-Sjoegren syndrome, first described in 1931 in four Rumanian siblings."},{"key":"ref_3","first-page":"225","volume":"102","author":"Kuriyama, M.; Fujiyama, J.; Yoshidome, H.","year":"1991","unstructured":"Kuriyama M, Fujiyama J, Yoshidome H, et al. Cerebrotateinodninoofuseixgahntthpoamtaiteonstiss:ancdlinriceavlieawndobfiotchehemliitcearlatuervea.lu_-7 Neurol Sci 1991;102:225-32.","journal-title":"et al. Cerebrotateinodninoofuseixgahntthpoamtaiteonstiss:ancdlinriceavlieawndobfiotchehemliitcearlatuervea.lu_-7 Neurol Sci"},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"169","DOI":"10.1016\/S0303-8467(87)80050-1","article-title":"Cerebrotendinous xanthomatosis (CTX): a clinical survey of the patient population in the Netherlands","volume":"89","author":"Waterreus, R.J.; Koopmann, B.J.; Wolthers, B.G.; Oosterhuis, H.J.G.H.","year":"1987","unstructured":"Waterreus RJ, Koopmann BJ, Wolthers BG, Oosterhuis HJGH. Cerebrotendinous xanthomatosis (CTX): a clinical survey of the patient population in the Netherlands. Clin Neurol Neurosurg 1987;89: 169-75.","journal-title":"Clin Neurol Neurosurg"},{"key":"ref_5","first-page":"65","article-title":"Cerebrotendinous xanthomatosis","volume":"Sl","author":"JLM, Van Hellenberg-Hubar; EMG, Joosten; RA, Wevers","year":"1992","unstructured":"Van Hellenberg-Hubar JLM, Joosten EMG, Wevers RA. Cerebrotendinous xanthomatosis. Clin Neurol Neurosurg 1992;94(suppl):Sl 65-7.","journal-title":"Clin Neurol Neurosurg"},{"issue":"26","key":"ref_6","first-page":"97","article-title":"Nouvelle maladie familiale caracterisee par une cataracte congenitale et un arret du development somato-neuro-psychique","volume":"1931","author":"Marinesco, G.; Draganesco, S.; Vasilia, D.","unstructured":"Marinesco G, Draganesco S, Vasilia D. Nouvelle maladie familiale caracterisee par une cataracte congenitale et un arret du development somato-neuro-psychique. L'Enciphale 1931;26:97-109.","journal-title":"L'Enciphale"},{"key":"ref_7","first-page":"555","article-title":"Marinesco-Sjogren syndrome","volume-title":"Handbook of clinical neurology. Vol 21","author":"Mahloudi, M.","year":"1975","unstructured":"Mahloudi M. Marinesco-Sjogren syndrome. In: Vinken PJ, Bruyn GW, eds. Handbook of clinical neurology. Vol 21. Amsterdam: Elsevier, 1975:555-61."},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"836","DOI":"10.1212\/WNL.12.12.836","article-title":"Cerebellar ataxia, congenital cataracts, and retarded somatic and mental maturation","volume":"12","author":"Alter, M.; Talbert, R.; Croffead, G.","year":"1963","unstructured":"Alter M, Talbert R, Croffead G. Cerebellar ataxia, congenital cataracts, and retarded somatic and mental maturation. Neurology 1963;12:836-47.","journal-title":"Neurology"},{"key":"ref_9","first-page":"154","article-title":"Mitochondrial myopathy in Marinesco-Sjogren syndrome","volume":"35","year":"1991","unstructured":"Torbergsen T, Aasly J, Borud 0, Lindal S, Mellgren SI. Mitochondrial myopathy in Marinesco-Sjogren syndrome. Journal of Mental Deficiency Research 1991;35: 154-9.","journal-title":"Journal of Mental Deficiency Research"},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"329","DOI":"10.1055\/s-2008-1071368","article-title":"Neuropathy with lysosomal changes in Marinesco-Sjogren syndrome: fine structural findings in skeletal muscle and conjunctiva","volume":"23","author":"Zimmer, C.; Gosztonyi, G.; Cervos-Navarro, J.; vonMoers A; Schroder, J.M.","year":"1992","unstructured":"Zimmer C, Gosztonyi G, Cervos-Navarro J, vonMoers A, Schroder JM. Neuropathy with lysosomal changes in Marinesco-Sjogren syndrome: fine structural findings in skeletal muscle and conjunctiva. Neuropediatnics 1992;23: 329-35.","journal-title":"Neuropediatnics"},{"issue":"26","key":"ref_11","first-page":"87","article-title":"Syndrome familial du type Marinesco-Sjogren avec quelques variantes","volume":"1969","author":"Monnet, P.; Paufique, L.; Salle, B.; Rosenberg, D.; Pasquier, N.; Picaud, S.","unstructured":"Monnet P, Paufique L, Salle B, Rosenberg D, Pasquier N, Picaud S. Syndrome familial du type Marinesco-Sjogren avec quelques variantes. Arch Fr Pidiatr 1969;26:87-95.","journal-title":"Arch Fr Pidiatr"},{"key":"ref_12","first-page":"257","article-title":"Hereditary cerebellar ataxia associated with congenital cataracts. Four cases of the Marinesco-Sjogren syndrome with some unusual features","volume":"51","year":"1972","unstructured":"Nyberg-Hansen R, Gronvik 0, Refsum S. Hereditary cerebellar ataxia associated with congenital cataracts. Four cases of the Marinesco-Sjogren syndrome with some unusual features. 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