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An early-onset case of adult-onset autosomal dominant leukodystrophy

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References

  1. Terlizzi R, Calandra-Buonaura G, Zanigni S, Barletta G, Capellari S, Guaraldi P, Donadio V, Cason E, Contin M, Poda R, Tonon C, Sambati L, Gallassi R, Liguori R, Lodi R, Cortelli P (2016) A longitudinal study of a family with adult-onset autosomal dominant leukodystrophy: clinical, autonomic and neuropsychological findings. Auton Neurosci 195:20–26. https://doi.org/10.1016/j.autneu.2016.02.005

    Article  PubMed  Google Scholar 

  2. Brussino A, Vaula G, Cagnoli C, Mauro A, Pradotto L, Daniele D, Di Gregorio E, Barberis M, Arduino C, Squadrone S, Abete MC, Migone N, Calabrese O, Brusco A (2009) A novel family with Lamin B1 duplication associated with adult-onset leucoencephalopathy. J Neurol Neurosurg Psychiatry 80:237–240. https://doi.org/10.1136/jnnp.2008.147330

    Article  CAS  PubMed  Google Scholar 

  3. Finnsson J, Sundblom J, Dahl N, Melberg A, Raininko R (2015) LMNB1-related autosomal-dominant leukodystrophy: clinical and radiological course. Ann Neurol 78:412–425. https://doi.org/10.1002/ana.24452

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  4. Giorgio E, Rolyan H, Kropp L, Chakka AB, Yatsenko S, Di Gregorio E, Lacerenza D, Vaula G, Talarico F, Mandich P, Toro C, Pierre EE, Labauge P, Capellari S, Cortelli P, Vairo FP, Miguel D, Stubbolo D, Marques LC, Gahl W, Boespflug-Tanguy O, Melberg A, Hassin-Baer S, Cohen OS, Pjontek R, Grau A, Klopstock T, Fogel B, Meijer I, Rouleau G, Bouchard JP, Ganapathiraju M, Vanderver A, Dahl N, Hobson G, Brusco A, Brussino A, Padiath QS (2013) Analysis of LMNB1 duplications in autosomal dominant leukodystrophy provides insights into duplication mechanisms and allele-specific expression. Hum Mutat 34:1160–1171. https://doi.org/10.1002/humu.22348

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  5. Eriguchi M, Suetsugi N, Yoshikawa M, Ide T, Ikeda M, Suzuyama K, Ikeuchi K, Hara H (2022) Clinical investigation of a family of Lamin B1-related adult-onset autosomal dominant leukodystrophy. Clin Neurol 62:208

    Google Scholar 

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Acknowledgements

We are grateful for Alfi Raudatil Jannah, MD, for conducting genetic analysis of NOTCH2NLC. We thank Bronwen Gardner, PhD, from Edanz (https://jp.edanz.com/ac) for editing a draft of this manuscript.

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Authors and Affiliations

  1. Department of Neurology, Institute of Medicine, University of Tsukuba, 1-1-1 Tennodai, Tsukuba, 305-8575, Ibaraki, Japan

    Izumi Mihashi, Kazuhiro Ishii & Shinji Saiki

  2. Department of Molecular Genetics, Brain Research Institute, Niigata University, 1-757 Asahimachidori, Chuo-ku, Niigata, 951-8585, Japan

    Norikazu Hara & Takeshi Ikeuchi

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  1. Izumi Mihashi
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  2. Kazuhiro Ishii
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  3. Norikazu Hara
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Correspondence to Izumi Mihashi.

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Mihashi, I., Ishii, K., Hara, N. et al. An early-onset case of adult-onset autosomal dominant leukodystrophy. Neurol Sci (2024). https://doi.org/10.1007/s10072-024-07667-6

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  • DOI: https://doi.org/10.1007/s10072-024-07667-6

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