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Treatment of cerebrotendinous xanthomatosis with chenodeoxycholic acid.

作者信息

Pedley T A, Emerson R G, Warner C L, Rowland L P, Salen G

出版信息

Ann Neurol. 1985 Oct;18(4):517-8. doi: 10.1002/ana.410180418.

DOI:10.1002/ana.410180418
PMID:4073846
Abstract

We describe a patient with cerebrotendinous xanthomatosis who was treated for one year with chenodeoxycholic acid. Modest clinical improvement was accompanied by marked improvement in visual and brainstem auditory evoked potentials. Improved central nervous system function coincided with return of plasma and cerebrospinal fluid cholestanol levels to normal.

摘要

相似文献

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Treatment of cerebrotendinous xanthomatosis with chenodeoxycholic acid.
Ann Neurol. 1985 Oct;18(4):517-8. doi: 10.1002/ana.410180418.
2
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Combined treatment with chenodeoxycholic acid and pravastatin improves plasma cholestanol levels associated with marked regression of tendon xanthomas in cerebrotendinous xanthomatosis.鹅去氧胆酸和普伐他汀联合治疗可改善脑腱性黄瘤病患者的血浆胆甾烷醇水平，并使肌腱黄瘤明显消退。
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[A case of cerebrotendinous xanthomatosis with spastic paraparesis, epilepsy, and bradykinesia].
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引用本文的文献

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Cerebrotendinous Xanthomatosis: A practice review of pathophysiology, diagnosis, and treatment.脑腱黄瘤病：病理生理学、诊断及治疗的实践综述
Front Neurol. 2022 Dec 23;13:1049850. doi: 10.3389/fneur.2022.1049850. eCollection 2022.
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The spectrum of magnetic resonance findings in cerebrotendinous xanthomatosis: redefinition and evidence of new markers of disease progression.脑腱黄瘤病的磁共振成像表现谱：疾病进展新标志物的重新定义及证据
J Neurol. 2017 May;264(5):862-874. doi: 10.1007/s00415-017-8440-0. Epub 2017 Mar 21.
3
Quantification of brain damage in cerebrotendinous xanthomatosis with magnetization transfer MR imaging.
利用磁化传递磁共振成像对脑腱黄瘤病中的脑损伤进行定量分析。
AJNR Am J Neuroradiol. 2003 Mar;24(3):495-500.
4
Case report 427: Cerebrotendinous xanthomatosis.
Skeletal Radiol. 1987;16(4):346-9. doi: 10.1007/BF00361481.
5
Cerebrotendinous xanthomatosis: a review of biochemical findings of the patient population in The Netherlands.脑腱黄瘤病：荷兰患者群体的生化检查结果综述
J Inherit Metab Dis. 1988;11(1):56-75. doi: 10.1007/BF01800057.
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Cerebrotendinous xanthomatosis: clinical and MRI study (a case report).脑腱性黄瘤病：临床与磁共振成像研究（病例报告）
J Neurol Neurosurg Psychiatry. 1990 Jan;53(1):76-8. doi: 10.1136/jnnp.53.1.76.
7
Cerebrotendinous xanthomatosis: clinical, electrophysiological and nerve biopsy findings, and response to treatment with chenodeoxycholic acid.脑腱黄瘤病：临床、电生理及神经活检结果，以及对鹅去氧胆酸治疗的反应
J Neurol. 1990 Jun;237(3):216-9. doi: 10.1007/BF00314598.
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Cerebrotendinous xanthomatosis: cranial CT and MRI studies in eight patients.
Neuroradiology. 1992;34(4):308-12. doi: 10.1007/BF00588188.
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Electrophysiological studies in cerebrotendinous xanthomatosis.脑腱黄瘤病的电生理研究
J Neurol Neurosurg Psychiatry. 1992 Jan;55(1):52-5. doi: 10.1136/jnnp.55.1.52.