[1] Sone J, Mori K, Inagaki T, Katsumata R, Takagi S, Yokoi S, Araki K, Kato T, Nakamura T, Koike H, Takashima H, Hashiguchi A, Kohno Y, Kurashige T, Kuriyama M, Takiyama Y, Tsuchiya M, Kitagawa N, Kawamoto M, Yoshimura H, Suto Y, Nakayasu H, Uehara N, Sugiyama H, Takahashi M, Kokubun N, Konno T, Katsuno M, Tanaka F, Iwasaki Y, Yoshida M, Sobue G. Clinicopathological features of adult-onset neuronal intranuclear inclusion disease[J]. Brain, 2016, 139(Pt 12):3170-3186. [2] Lindenberg R, Rubinstein LJ, Herman MM, Haydon GB. A light and electron microscopy study of an unusual widespread nuclear inclusion body disease:a possible residuum of an old herpesvirus infection[J]. Acta Neuropathol, 1968, 10:54-73. [3] Sung JH, Ramirez-Lassepas M, Mastri AR, Larkin SM. An unusual degenerative disorder of neurons associated with a novel intranuclear hyaline inclusion (neuronal intranuclear hyaline inclusion disease):a clinicopathological study of a case[J]. J Neuropathol Exp Neurol, 1980, 39:107-130. [4] Sone J, Hishikawa N, Koike H, Hattori N, Hirayama M, Nagamatsu M, Yamamoto M, Tanaka F, Yoshida M, Hashizume Y, Imamura H, Yamada E, Sobue G. Neuronal intranuclear hyaline inclusion disease showing motor-sensory and autonomic neuropathy[J]. Neurology, 2005, 65:1538-1543. [5] Sone J, Tanaka F, Koike H, Inukai A, Katsuno M, Yoshida M, Watanabe H, Sobue G. Skin biopsy is useful for the antemortem diagnosis of neuronal intranuclear inclusion disease[J].Neurology, 2011, 76:1372-1376. [6] Sone J, Mitsuhashi S, Fujita A, Mizuguchi T, Hamanaka K, Mori K, Koike H, Hashiguchi A, Takashima H, Sugiyama H, Kohno Y, Takiyama Y, Maeda K, Doi H, Koyano S, Takeuchi H, Kawamoto M, Kohara N, Ando T, Ieda T, Kita Y, Kokubun N, Tsuboi Y, Katoh K, Kino Y, Katsuno M, Iwasaki Y, Yoshida M, Tanaka F, Suzuki IK, Frith MC, Matsumoto N, Sobue G. Long-read sequencing identifies GGC repeat expansions in NOTCH2NLC associated with neuronal intranuclear inclusion disease[J]. Nat Genet, 2019, 51:1215-1221. [7] Takahashi-Fujigasaki J, Nakano Y, Uchino A, Murayama S. Adult-onset neuronal intranuclear hyaline inclusion disease is not rare in older adults[J]. Geriatr Gerontol Int, 2016, 16 Suppl 1:51-56. [8] Takahashi-Fujigasaki J. Neuronal intranuclear hyaline inclusion disease (NIHID):an update[J]. Brain Nerve, 2015, 67:199-204. [9] Takahashi J, Fukuda T, Tanaka J, Minamitani M, Fujigasaki H, Uchihara T. Neuronal intranuclear hyaline inclusion disease with polyglutamine-immunoreactive inclusions[J]. Acta Neuropathol, 2000, 99:589-594. [10] Wang Y, Wang B, Wang L, Yao S, Zhao J, Zhong S, Cong L, Liu L, Zhang J, Zhang J, Hong D. Diagnostic indicators for adult-onset neuronal intranuclear inclusion disease[J]. Clin Neuropathol, 2020, 39:7-18. [11] Qin X, Chen H, Zhou C, Wang X, Gao J, Guo N, Wang Y, Li S. Neuronal intranuclear inclusion disease:two case report and literature review[J]. Neurol Sci, 2021, 42:293-296. [12] Fu JY, Zhu WH, Mao YT, Gao MS, Wang Y, Chen X. A case of sporadic adult-onset neuronal intranuclear inclusion disease presented with pure autonomic dysfunction[J]. Zhonghua Shen Jing Ke Za Zhi, 2021, 54:43-47.[付佳玉,朱雯华,茅翼亭,高名士,汪寅,程忻.临床表现为单纯自主神经受损的神经元核内包涵体病一例[J].中华神经科杂志, 2021, 54:43-47.] [13] Chen L, Chen A, Lei S, He L, Zhou M. Teaching neuroimages:the zigzag edging sign of adult-onset neuronal intranuclear inclusion disease[J]. Neurology, 2019, 92:e2295-2296. [14] Chen WA, Li X, Zhu WQ, Zhang Y, Zhang ZQ. Adult-onset neuronal intranuclear inclusion disease:a case report and review of literature[J]. Zhonghua Shen Jing Ke Za Zhi, 2018, 51:905-908.[陈为安,厉向,朱维谦,张扬,张在强.成人型神经元核内包涵体病一例并文献复习[J].中华神经科杂志, 2018, 51:905-908.] [15] Lu X, Hong D. Neuronal intranuclear inclusion disease:recognition and update[J]. J Neural Transm (Vienna), 2021, 128:295-303. [16] Han X, Han M, Liu N, Xu J, Zhang Y, Zhang Y, Hong D, Zhang W. Adult-onset neuronal intranuclear inclusion disease presenting with typical MRI changes[J]. Brain Behav, 2019, 9:e01477. [17] Abe K, Fujita M. Over 10 years MRI observation of a patient with neuronal intranuclear inclusion disease[J]. BMJ Case Rep, 2017:IDbcr2016218790. [18] Ishiura H, Shibata S, Yoshimura J, Suzuki Y, Qu W, Doi K, Almansour MA, Kikuchi JK, Taira M, Mitsui J, Takahashi Y, Ichikawa Y, Mano T, Iwata A, Harigaya Y, Matsukawa MK, Matsukawa T, Tanaka M, Shirota Y, Ohtomo R, Kowa H, Date H, Mitsue A, Hatsuta H, Morimoto S, Murayama S, Shiio Y, Saito Y, Mitsutake A, Kawai M, Sasaki T, Sugiyama Y, Hamada M, Ohtomo G, Terao Y, Nakazato Y, Takeda A, Sakiyama Y, Umeda-Kameyama Y, Shinmi J, Ogata K, Kohno Y, Lim SY, Tan AH, Shimizu J, Goto J, Nishino I, Toda T, Morishita S, Tsuji S. Noncoding CGG repeat expansions in neuronal intranuclear inclusion disease, oculopharyngodistal myopathy and an overlapping disease[J]. Nat Genet, 2019, 51:1222-1232. [19] Tian Y, Wang JL, Huang W, Zeng S, Jiao B, Liu Z, Chen Z, Li Y, Wang Y, Min HX, Wang XJ, You Y, Zhang RX, Chen XY, Yi F, Zhou YF, Long HY, Zhou CJ, Hou X, Wang JP, Xie B, Liang F, Yang ZY, Sun QY, Allen EG, Shafik AM, Kong HE, Guo JF, Yan XX, Hu ZM, Xia K, Jiang H, Xu HW, Duan RH, Jin P, Tang BS, Shen L. Expansion of human-specific GGC repeat in neuronal intranuclear inclusion disease-related disorders[J]. Am J Hum Genet, 2019, 105:166-176. [20] Deng J, Gu M, Miao Y, Yao S, Zhu M, Fang P, Yu X, Li P, Su Y, Huang J, Zhang J, Yu J, Li F, Bai J, Sun W, Huang Y, Yuan Y, Hong D, Wang Z. Long-read sequencing identified repeat expansions in the 5'UTR of the NOTCH2NLC gene from Chinese patients with neuronal intranuclear inclusion disease[J]. J Med Genet, 2019, 56:758-764. [21] Gu ML, Deng JW, Yu JX, Bai J, Li F, Sun W, Zhou H, Hu Q, Wan ZR, Huang YN, Yuan Y, Wang ZX. Neuronal intranuclear inclusion disease:the clinical features and pathological findings of peripheral tissue biopsy in nine cases with genetic diagnosis[J]. Zhonghua Shen Jing Ke Za Zhi, 2021, 54:219-227.[谷牧良,邓健文,于佳希,白静,李凡,孙葳,周红,呼群,万志荣,黄一宁,袁云,王朝霞.基因确诊的九例神经元核内包涵体病的临床和外周组织病理改变分析[J].中华神经科杂志, 2021, 54:219-227.] [22] Chen Z, Yan Yau W, Jaunmuktane Z, Tucci A, Sivakumar P, Gagliano Taliun SA, Turner C, Efthymiou S, Ibá?ez K, Sullivan R, Bibi F, Athanasiou-Fragkouli A, Bourinaris T, Zhang D, Revesz T, Lashley T, DeTure M, Dickson DW, Josephs KA, Gelpi E, Kovacs GG, Halliday G, Rowe DB, Blair I, Tienari PJ, Suomalainen A, Fox NC, Wood NW, Lees AJ, Haltia MJ, Hardy J, Ryten M, Vandrovcova J, Houlden H; Genomics England Research Consortium. Neuronal intranuclear inclusion disease is genetically heterogeneous[J]. Ann Clin Transl Neurol, 2020, 7:1716-1725. [23] Mori F, Tanji K, Toyoshima Y, Yoshida M, Kakita A, Takahashi H, Wakabayashi K. Optineurin immunoreactivity in neuronal nuclear inclusions of polyglutamine diseases (Huntington's, DRPLA, SCA2, SCA3) and intranuclear inclusion body disease[J]. Acta Neuropathol, 2012, 123:747-749. [24] Jiao B, Zhou L, Zhou Y, Weng L, Liao X, Tian Y, Guo L, Liu X, Yuan Z, Xiao X, Jiang Y, Wang X, Yang Q, Li C, Zhu Y, Zhou L, Zhang W, Wang J, Li Y, Gu W, Yang J, Xia J, Huang Q, Yin J, Xue J, Duan R, Tang B, Shen L. Identification of expanded repeats in NOTCH2NLC in neurodegenerative dementias[J]. Neurobiol Aging, 2020, 89:142.e1-7. [25] Sun QY, Xu Q, Tian Y, Hu ZM, Qin LX, Yang JX, Huang W, Xue J, Li JC, Zeng S, Wang Y, Min HX, Chen XY, Wang JP, Xie B, Liang F, Zhang HN, Wang CY, Lei LF, Yan XX, Xu HW, Duan RH, Xia K, Liu JY, Jiang H, Shen L, Guo JF, Tang BS. Expansion of GGC repeat in the human-specific NOTCH2NLC gene is associated with essential tremor[J].Brain, 2020, 143:222-233. |