{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,23]],"date-time":"2026-03-23T23:12:01Z","timestamp":1774307521407,"version":"3.50.1"},"reference-count":25,"publisher":"Springer Science and Business Media LLC","issue":"8","license":[{"start":{"date-parts":[[2022,4,14]],"date-time":"2022-04-14T00:00:00Z","timestamp":1649894400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.springer.com\/tdm"},{"start":{"date-parts":[[2022,4,14]],"date-time":"2022-04-14T00:00:00Z","timestamp":1649894400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.springer.com\/tdm"}],"funder":[{"DOI":"10.13039\/501100006407","name":"Natural Science Foundation of Henan Province","doi-asserted-by":"publisher","award":["212300410241"],"award-info":[{"award-number":["212300410241"]}],"id":[{"id":"10.13039\/501100006407","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Neurol Sci"],"published-print":{"date-parts":[[2022,8]]},"DOI":"10.1007\/s10072-022-06057-0","type":"journal-article","created":{"date-parts":[[2022,4,14]],"date-time":"2022-04-14T01:04:48Z","timestamp":1649898288000},"page":"1-9","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["Adult-onset autosomal dominant leukodystrophy and neuronal intranuclear inclusion disease: lessons from two new Chinese families"],"prefix":"10.1007","volume":"43","author":[{"given":"Shuai","family":"Chen","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jin-Long","family":"Zou","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shuang","family":"He","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wei","family":"Li","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jie-Wen","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2484-9944","authenticated-orcid":false,"given":"Shu-Jian","family":"Li","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2022,4,14]]},"reference":[{"issue":"15","key":"6057_CR1","doi-asserted-by":"publisher","first-page":"948","DOI":"10.1056\/NEJM198410113111504","volume":"311","author":"R Eldridge","year":"1984","unstructured":"Eldridge R, Anayiotos CP, Schlesinger S, Cowen D, Bever C, Patronas N et al (1984) Hereditary adult-onset leukodystrophy simulating chronic progressive multiple sclerosis. N Engl J Med 311(15):948\u201353. https:\/\/doi.org\/10.1056\/NEJM198410113111504","journal-title":"N Engl J Med"},{"issue":"5","key":"6057_CR2","doi-asserted-by":"publisher","first-page":"787","DOI":"10.1093\/hmg\/9.5.787","volume":"9","author":"CM Coffeen","year":"2000","unstructured":"Coffeen CM, McKenna CE, Koeppen AH, Plaster NM, Maragakis N, Mihalopoulos J et al (2000) Genetic localization of an autosomal dominant leukodystrophy mimicking chronic progressive multiple sclerosis to chromosome 5q31. Hum Mol Genet 9(5):787\u201393. https:\/\/doi.org\/10.1093\/hmg\/9.5.787","journal-title":"Hum Mol Genet"},{"issue":"10","key":"6057_CR3","doi-asserted-by":"publisher","first-page":"1114","DOI":"10.1038\/ng1872","volume":"38","author":"QS Padiath","year":"2006","unstructured":"Padiath QS, Saigoh K, Schiffmann R, Asahara H, Yamada T, Koeppen A et al (2006) Lamin B1 duplications cause autosomal dominant leukodystrophy. Nat Genet 38(10):1114\u201323. https:\/\/doi.org\/10.1038\/ng1872","journal-title":"Nat Genet"},{"issue":"6","key":"6057_CR4","doi-asserted-by":"publisher","first-page":"608","DOI":"10.1002\/ajmg.b.30342","volume":"141B","author":"L Marklund","year":"2006","unstructured":"Marklund L, Melin M, Melberg A, Giedraitis V, Dahl N (2006) Adult-onset autosomal dominant leukodystrophy with autonomic symptoms restricted to 1.5 Mbp on chromosome 5q23. Am J Med Genet B Neuropsychiatr Genet 141B(6):608\u201314. https:\/\/doi.org\/10.1002\/ajmg.b.30342","journal-title":"Am J Med Genet B Neuropsychiatr Genet"},{"issue":"11","key":"6057_CR5","doi-asserted-by":"publisher","first-page":"3143","DOI":"10.1093\/hmg\/ddv065","volume":"24","author":"E Giorgio","year":"2015","unstructured":"Giorgio E, Robyr D, Spielmann M, Ferrero E, Di Gregorio E, Imperiale D et al (2015) A large genomic deletion leads to enhancer adoption by the lamin B1 gene: a second path to autosomal dominant adult-onset demyelinating leukodystrophy (ADLD). Hum Mol Genet 24(11):3143\u201354. https:\/\/doi.org\/10.1093\/hmg\/ddv065","journal-title":"Hum Mol Genet"},{"issue":"6","key":"6057_CR6","doi-asserted-by":"publisher","first-page":"e292","DOI":"10.1212\/NXG.0000000000000292","volume":"4","author":"N Mezaki","year":"2018","unstructured":"Mezaki N, Miura T, Ogaki K, Eriguchi M, Mizuno Y, Komatsu K et al (2018) Duplication and deletion upstream of LMNB1 in autosomal dominant adult-onset leukodystrophy. Neurol Genet 4(6):e292. https:\/\/doi.org\/10.1212\/NXG.0000000000000292","journal-title":"Neurol Genet"},{"issue":"11","key":"6057_CR7","doi-asserted-by":"publisher","first-page":"758","DOI":"10.1136\/jmedgenet-2019-106268","volume":"56","author":"J Deng","year":"2019","unstructured":"Deng J, Gu M, Miao Y, Yao S, Zhu M, Fang P et al (2019) Long-read sequencing identified repeat expansions in the 5\u2019UTR of the NOTCH2NLC gene from Chinese patients with neuronal intranuclear inclusion disease. J Med Genet 56(11):758\u201364. https:\/\/doi.org\/10.1136\/jmedgenet-2019-106268","journal-title":"J Med Genet"},{"issue":"3","key":"6057_CR8","doi-asserted-by":"publisher","first-page":"412","DOI":"10.1002\/ana.24452","volume":"78","author":"J Finnsson","year":"2015","unstructured":"Finnsson J, Sundblom J, Dahl N, Melberg A, Raininko R (2015) LMNB1-related autosomal-dominant leukodystrophy: clinical and radiological course. Ann Neurol 78(3):412\u201325. https:\/\/doi.org\/10.1002\/ana.24452","journal-title":"Ann Neurol"},{"key":"6057_CR9","doi-asserted-by":"publisher","first-page":"41","DOI":"10.3389\/fcell.2019.00041","volume":"7","author":"QS Padiath","year":"2019","unstructured":"Padiath QS (2019) Autosomal dominant leukodystrophy: a disease of the nuclear lamina. Front Cell Dev Biol 7:41. https:\/\/doi.org\/10.3389\/fcell.2019.00041","journal-title":"Front Cell Dev Biol"},{"issue":"2","key":"6057_CR10","doi-asserted-by":"publisher","first-page":"328","DOI":"10.3174\/ajnr.A1354","volume":"30","author":"J Sundblom","year":"2009","unstructured":"Sundblom J, Melberg A, Kalimo H, Smits A, Raininko R (2009) MR imaging characteristics and neuropathology of the spinal cord in adult-onset autosomal dominant leukodystrophy with autonomic symptoms. AJNR Am J Neuroradiol 30(2):328\u201335. https:\/\/doi.org\/10.3174\/ajnr.A1354","journal-title":"AJNR Am J Neuroradiol"},{"key":"6057_CR11","doi-asserted-by":"publisher","first-page":"215","DOI":"10.3389\/fnmol.2017.00215","volume":"10","author":"Y Dai","year":"2017","unstructured":"Dai Y, Ma Y, Li S, Banerjee S, Liang S, Liu Q et al (2017) An LMNB1 duplication caused adult-onset autosomal dominant leukodystrophy in Chinese family: clinical manifestations, neuroradiology and genetic diagnosis. Front Mol Neurosci 10:215. https:\/\/doi.org\/10.3389\/fnmol.2017.00215","journal-title":"Front Mol Neurosci"},{"key":"6057_CR12","doi-asserted-by":"publisher","first-page":"1030","DOI":"10.3389\/fnins.2019.01030","volume":"13","author":"Y Zhang","year":"2019","unstructured":"Zhang Y, Li J, Bai R, Wang J, Peng T, Chen L et al (2019) LMNB1-related adult-onset autosomal dominant leukodystrophy presenting as movement disorder: a case report and review of the literature. Front Neurosci. 13:1030. https:\/\/doi.org\/10.3389\/fnins.2019.01030","journal-title":"Front Neurosci."},{"issue":"8","key":"6057_CR13","doi-asserted-by":"publisher","first-page":"1421","DOI":"10.1212\/wnl.37.8.1421","volume":"37","author":"RT Brown","year":"1987","unstructured":"Brown RT, Polinsky RJ, Schwankhaus J, Eldridge R, McFarland H, Schlesinger S et al (1987) Adrenergic dysfunction in hereditary adult-onset leukodystrophy. Neurology 37(8):1421\u20134. https:\/\/doi.org\/10.1212\/wnl.37.8.1421","journal-title":"Neurology"},{"key":"6057_CR14","doi-asserted-by":"publisher","first-page":"20","DOI":"10.1016\/j.autneu.2016.02.005","volume":"195","author":"R Terlizzi","year":"2016","unstructured":"Terlizzi R, Calandra-Buonaura G, Zanigni S, Barletta G, Capellari S, Guaraldi P et al (2016) A longitudinal study of a family with adult-onset autosomal dominant leukodystrophy: clinical, autonomic and neuropsychological findings. Auton Neurosci. 195:20\u20136. https:\/\/doi.org\/10.1016\/j.autneu.2016.02.005","journal-title":"Auton Neurosci."},{"issue":"5","key":"6057_CR15","doi-asserted-by":"publisher","first-page":"1019","DOI":"10.1007\/s10072-019-04195-6","volume":"41","author":"HK Raza","year":"2020","unstructured":"Raza HK, Singh S, Rai P, Chansysouphanthong T, Amir A, Cui G et al (2020) Recent progress in neuronal intranuclear inclusion disease: a review of the literature. Neurol Sci 41(5):1019\u201325. https:\/\/doi.org\/10.1007\/s10072-019-04195-6","journal-title":"Neurol Sci"},{"issue":"3","key":"6057_CR16","doi-asserted-by":"publisher","first-page":"295","DOI":"10.1007\/s00702-021-02313-3","volume":"128","author":"X Lu","year":"2021","unstructured":"Lu X, Hong D (2021) Neuronal intranuclear inclusion disease: recognition and update. J Neural Transm (Vienna) 128(3):295\u2013303. https:\/\/doi.org\/10.1007\/s00702-021-02313-3","journal-title":"J Neural Transm (Vienna)"},{"key":"6057_CR17","unstructured":"Raininko R, Gosky M, Padiath QS (1993) LMNB1-related autosomal dominant leukodystrophy [updated 2021 Jul 15]. In: Adam MP, Ardinger HH, Pagon RA et al (eds.) GeneReviews\u00ae.\u00a0 University of Washington, Seattle"},{"issue":"1","key":"6057_CR18","doi-asserted-by":"publisher","first-page":"166","DOI":"10.1016\/j.ajhg.2019.05.013","volume":"105","author":"Y Tian","year":"2019","unstructured":"Tian Y, Wang JL, Huang W, Zeng S, Jiao B, Liu Z et al (2019) Expansion of human-specific GGC repeat in neuronal intranuclear inclusion disease-related disorders. Am J Hum Genet 105(1):166\u201376. https:\/\/doi.org\/10.1016\/j.ajhg.2019.05.013","journal-title":"Am J Hum Genet"},{"issue":"6","key":"6057_CR19","doi-asserted-by":"publisher","first-page":"e531","DOI":"10.1212\/NXG.0000000000000531","volume":"6","author":"T Ishihara","year":"2020","unstructured":"Ishihara T, Okamoto T, Saida K, Saitoh Y, Oda S, Sano T et al (2020) Neuronal intranuclear inclusion disease presenting with an MELAS-like episode in chronic polyneuropathy. Neurol Genet. 6(6):e531. https:\/\/doi.org\/10.1212\/NXG.0000000000000531","journal-title":"Neurol Genet."},{"issue":"10","key":"6057_CR20","doi-asserted-by":"publisher","first-page":"1930","DOI":"10.1002\/acn3.51189","volume":"7","author":"H Chen","year":"2020","unstructured":"Chen H, Lu L, Wang B, Cui G, Wang X, Wang Y et al (2020) Re-defining the clinicopathological spectrum of neuronal intranuclear inclusion disease. Ann Clin Transl Neurol. 7(10):1930\u201341. https:\/\/doi.org\/10.1002\/acn3.51189","journal-title":"Ann Clin Transl Neurol."},{"issue":"1","key":"6057_CR21","doi-asserted-by":"publisher","first-page":"204","DOI":"10.1186\/s40478-020-01084-4","volume":"8","author":"M Ogasawara","year":"2020","unstructured":"Ogasawara M, Iida A, Kumutpongpanich T, Ozaki A, Oya Y, Konishi H et al (2020) CGG expansion in NOTCH2NLC is associated with oculopharyngodistal myopathy with neurological manifestations. Acta Neuropathol Commun. 8(1):204. https:\/\/doi.org\/10.1186\/s40478-020-01084-4","journal-title":"Acta Neuropathol Commun."},{"issue":"4","key":"6057_CR22","doi-asserted-by":"publisher","first-page":"517","DOI":"10.1002\/acn3.51021","volume":"7","author":"P Fang","year":"2020","unstructured":"Fang P, Yu Y, Yao S, Chen S, Zhu M, Chen Y et al (2020) Repeat expansion scanning of the NOTCH2NLC gene in patients with multiple system atrophy. Ann Clin Transl Neurol. 7(4):517\u201326. https:\/\/doi.org\/10.1002\/acn3.51021","journal-title":"Ann Clin Transl Neurol."},{"key":"6057_CR23","doi-asserted-by":"publisher","unstructured":"Cao L, Yan Y, Zhao G (2021) NOTCH2NLC-related repeat expansion disorders: an expanding group of neurodegenerative disorders. Neurol Sci. https:\/\/doi.org\/10.1007\/s10072-021-05498-3","DOI":"10.1007\/s10072-021-05498-3"},{"issue":"11","key":"6057_CR24","doi-asserted-by":"publisher","first-page":"1090","DOI":"10.1097\/NEN.0000000000000008","volume":"72","author":"M Alturkustani","year":"2013","unstructured":"Alturkustani M, Sharma M, Hammond R, Ang LC (2013) Adult-onset leukodystrophy: review of 3 clinicopathologic phenotypes and a proposed classification. J Neuropathol Exp Neurol 72(11):1090\u2013103. https:\/\/doi.org\/10.1097\/NEN.0000000000000008","journal-title":"J Neuropathol Exp Neurol"},{"issue":"4","key":"6057_CR25","doi-asserted-by":"publisher","first-page":"501","DOI":"10.1016\/j.ymgme.2014.12.434","volume":"114","author":"S Parikh","year":"2015","unstructured":"Parikh S, Bernard G, Leventer RJ, van der Knaap MS, van Hove J, Pizzino A et al (2015) A clinical approach to the diagnosis of patients with leukodystrophies and genetic leukoencephelopathies. Mol Genet Metab 114(4):501\u201315. https:\/\/doi.org\/10.1016\/j.ymgme.2014.12.434","journal-title":"Mol Genet Metab"}],"container-title":["Neurological Sciences"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s10072-022-06057-0.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s10072-022-06057-0\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s10072-022-06057-0.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,8,3]],"date-time":"2022-08-03T13:12:07Z","timestamp":1659532327000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s10072-022-06057-0"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,4,14]]},"references-count":25,"journal-issue":{"issue":"8","published-print":{"date-parts":[[2022,8]]}},"alternative-id":["6057"],"URL":"https:\/\/doi.org\/10.1007\/s10072-022-06057-0","relation":{},"ISSN":["1590-1874","1590-3478"],"issn-type":[{"value":"1590-1874","type":"print"},{"value":"1590-3478","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,4,14]]},"assertion":[{"value":"17 February 2022","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"2 April 2022","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"14 April 2022","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"This study was approved by the local ethical committee. Written informed consent for clinical data collection and genetic testing were obtained from the probands and their relatives.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethical approval and consent to participate"}},{"value":"The authors declare no competing interests.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflict of interest"}}]}}