
内科理论与实践››2021,Vol. 16››Issue (05): 304-307.doi:10.16138/j.1673-6087.2021.05.004
谢安木, 栾梦葶, 王莹, 石万达
收稿日期:2021-06-04出版日期:2021-10-20发布日期:2022-07-25
Received:2021-06-04Online:2021-10-20Published:2022-07-25| [1] | Xie JJ, Wu ZY. Wilson’s disease in China[J]. Neurosci Bull, 2017, 33(3): 323-330. doi:10.1007/s12264-017-0107-4URL |
| [2] | Taly AB, Meenakshi-Sundaram S, Sinha S, et al. Wilson disease: description of 282 patients evaluated over 3 decades[J]. Medicine (Baltimore), 2007, 86(2): 112-121. doi:10.1097/MD.0b013e318045a00eURL |
| [3] | Członkowska A, Litwin T, Dusek P, et al. Wilson disease[J]. Nat Rev Dis Primers, 2018, 4(1): 21. doi:10.1038/s41572-018-0018-3pmid:30190489 |
| [4] | Członkowska A, Rodo M, Gromadzka G. Late onset Wilson’s disease: therapeutic implications[J]. Mov Disord, 2008, 23(6): 896-898. doi:10.1002/mds.21985URL |
| [5] | Poujois A, Woimant F. Wilson’s disease: a 2017 update[J]. Clin Res Hepatol Gastroenterol, 2018, 42(6): 512-520. doi:10.1016/j.clinre.2018.03.007URL |
| [6] | Hermann W. Morphological and functional imaging in neurological and non-neurological Wilson’s patients[J]. Ann N Y Acad Sci, 2014, 1315: 24-29. doi:10.1111/nyas.12343URL |
| [7] | Hermann W. Classification and differential diagnosis of Wilson’s disease[J]. Ann Transl Med, 2019, 7 Suppl 2: S63. |
| [8] | 董兴伟. 磁共振对肝豆状核变性的诊断价值[J]. 中国现代药物应用, 2015, 9(1): 59-60. |
| [9] | Dohan A, Vargas O, Dautry R, et al. MR imaging features of focal liver lesions in Wilson disease[J]. Abdom Radiol (NY), 2016, 41(9): 1811-1824. |
| [10] | 何望生, 杨文明. 3例肝豆状核变性的罕见脑部影像学表现[C]// 2017全国中医民族医脑病学术大会暨脑血管病和运动障碍疾病高峰论坛、第四届皖江脑病论坛. 2017: 336-339. |
| [11] | Sinha S, Taly AB, Ravishankar S, et al. Wilson’s disease: cranial MRI observations and clinical correlation[J]. Neuroradiology, 2006, 48(9): 613-621. pmid:16752136 |
| [12] | 张金昌, 李志章, 时文伟. 5例肝豆状核变性患者的影像学检查结果分析[J]. 山东医药, 2005, 45(20): 53-54. |
| [13] | Nazer H, Brismar J al-Kawi MZ, et al. Magnetic resonance imaging of the brain in Wilson’s disease[J]. Neuro-radiology, 1993, 35(2): 130-133. |
| [14] | Zou L, Song Y, Zhou X, et al. Regional morphometric abnormalities and clinical relevance in Wilson’s disease[J]. Mov Disord, 2019, 34(4): 545-554. doi:10.1002/mds.27641URL |
| [15] | Prashanth LK, Sinha S, Taly AB, et al. Do MRI features distinguish Wilson’s disease from other early onset extrapyramidal disorders? An analysis of 100 cases[J]. Mov Disord, 2010, 25(6): 672-678. doi:10.1002/mds.22689URL |
| [16] | Horoupian DS, Sternlieb I, Scheinberg IH. Neuropathological findings in penicillamine-treated patients with Wilson’s disease[J]. Clin Neuropathol, 1988, 7(2): 62-67. pmid:3390974 |
| [17] | Bandmann O, Weiss KH, Kaler SG. Wilson’s disease and other neurological copper disorders[J]. Lancet Neurol, 2015, 14(1): 103-113. doi:10.1016/S1474-4422(14)70190-5pmid:25496901 |
| [18] | 马平, 郑彬. 肝豆状核变性颅内病变的影像及临床表现[J]. 医学影像学杂志, 2018, 28(2): 326-328. |
| [19] | Kalita J, Kumar N, Maurya PK, et al. A study of computed tomography scan and magnetic resonance imaging findings in pseudohypoparathyroidism[J]. Ann Indian Acad Neurol, 2010, 13(3): 204-206. doi:10.4103/0972-2327.70870URL |
| [20] | Sonam K, Bindu PS, Gayathri N, et al. The “double panda” sign in Leigh disease[J]. J Child Neurol, 2014, 29(7): 980-982. doi:10.1177/0883073813484968URL |
| [21] | Trocello JM, Woimant F, El Balkhi S, et al. Extensive striatal, cortical, and white matter brain MRI abnormalities in Wilson disease[J]. Neurology, 2013, 81(17): 1557. doi:10.1212/WNL.0b013e3182a95883URL |
| [22] | Hermann W, Günther P, Hahn S, et al. Cerebral MRI and evoked potentials in Wilson disease[J]. Nervenarzt, 2002, 73(4): 349-354. pmid:12040983 |
| [23] | Schlaug G, Hefter H, Engelbrecht V, et al. Neurological impairment and recovery in Wilson’s disease: evidence from PET and MRI[J]. J Neurol Sci, 1996, 136(1-2): 129-139. doi:10.1016/0022-510x(95)00293-bpmid:8815159 |
| [24] | Barthel H, Sorger D, Kühn HJ, et al. Differential alteration of the nigrostriatal dopaminergic system in Wilson’s disease investigated with [123I]β-CIT and high-resolution SPET[J]. Eur J Nucl Med, 2001, 28(11): 1656-1663. pmid:11702107 |
| [25] | Roberts EA. Update on the diagnosis and management of Wilson disease[J]. Curr Gastroenterol Rep, 2018, 20(12): 56. doi:10.1007/s11894-018-0660-7pmid:30397835 |
| [26] | Zhong W, Huang Z, Tang X. A study of brain MRI characteristics and clinical features in 76 cases of Wilson’s disease[J]. J Clin Neurosci, 2019, 59: 167-174. doi:S0967-5868(18)30210-8pmid:30385165 |
| [27] | Rossi M, Ruottinen H, Soimakallio S, et al. Clinical MRI for iron detection in Parkinson’s disease[J]. Clin Imaging, 2013, 37(4): 631-636. doi:10.1016/j.clinimag.2013.02.001URL |
| [28] | Zhou XX, Qin HL, Li XH, et al. Characterizing brain mineral deposition in patients with Wilson disease using susceptibility-weighted imaging[J]. Neurol India, 2014, 62(4): 362-366. doi:10.4103/0028-3886.141221URL |
| [29] | Mittal S, Wu Z, Neelavalli J, et al. Susceptibility-weighted imaging: technical aspects and clinical applications, part 2[J]. AJNR Am J Neuroradiol, 2009, 30(2): 232-252. doi:10.3174/ajnr.A1461URL |
| [30] | Hingwala DR, Kesavadas C, Thomas B, et al. Susceptibility weighted imaging in the evaluation of movement disorders[J]. Clin Radiol, 2013, 68(6): e338-e348. doi:10.1016/j.crad.2012.12.003URL |
| [31] | Lee JH, Yang TI, Cho M, et al. Widespread cerebral cortical mineralization in Wilson’s disease detected by susceptibility-weighted imaging[J]. J Neurol Sci, 2012, 313(1-2): 54-56. doi:10.1016/j.jns.2011.09.031URL |
| [32] | Tinaz S, Arora J, Nalamada K, et al. Structural and functional brain changes in hepatic and neurological Wilson disease[J]. Brain Imaging Behav, 2020.[Epub ahead of print]. |
| [33] | Haacke EM, Liu S, Buch S, et al. Quantitative susceptibility mapping: current status and future directions[J]. Magn Reson Imaging, 2015, 33(1): 1-25. doi:10.1016/j.mri.2014.09.004pmid:25267705 |
| [34] | Fritzsch D, Reiss-Zimmermann M, Trampel R, et al. Seven-tesla magnetic resonance imaging in Wilson disease using quantitative susceptibility mapping for measurement of copper accumulation[J]. Invest Radiol, 2014, 49(5): 299-306. doi:10.1097/RLI.0000000000000010pmid:24220252 |
| [35] | Tondo G, Esposito M, Dervenoulas G, et al. Hybrid PET-MRI applications in movement disorders[J]. Int Rev Neurobiol, 2019, 144: 211-257. |
| [36] | Hermann W, Barthel H, Hesse S, et al. Comparison of clinical types of Wilson’s disease and glucose metabolism in extrapyramidal motor brain regions[J]. J Neurol, 2002, 249(7): 896-901. pmid:12140675 |
| [37] | Hawkins RA, Mazziotta JC, Phelps ME. Wilson’s disease studied with FDG and positron emission tomography[J]. Neurology, 1987, 37(11): 1707-1711. pmid:3499583 |
| [38] | Hegde S, Sinha S, Rao SL, et al. Cognitive profile and structural findings in Wilson’s disease: a neuropsychological and MRI-based study[J]. Neurol India, 2010, 58(5): 708-713. doi:10.4103/0028-3886.72172URL |
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