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Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration Volume 23, 2022 - Issue 1-2
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Short Reports

An identical DCTN1 mutation in two Chinese siblings manifest as dHMN and ALS respectively: a case report

Ji He1 Department of Neurology, Peking University Third Hospital, Beijing, China and;2 Beijing Municipal Key Laboratory of Biomarker and Translational Research in Neurodegenerative Diseases, Beijing, ChinaView further author information
,
Weiyi Yu1 Department of Neurology, Peking University Third Hospital, Beijing, China and;2 Beijing Municipal Key Laboratory of Biomarker and Translational Research in Neurodegenerative Diseases, Beijing, ChinaView further author information
,
Xiaoxuan Liu1 Department of Neurology, Peking University Third Hospital, Beijing, China and;2 Beijing Municipal Key Laboratory of Biomarker and Translational Research in Neurodegenerative Diseases, Beijing, ChinaView further author information
&
Dongsheng Fan1 Department of Neurology, Peking University Third Hospital, Beijing, China and;2 Beijing Municipal Key Laboratory of Biomarker and Translational Research in Neurodegenerative Diseases, Beijing, ChinaCorrespondence[email protected]
View further author information
Pages 149-153 | Received 07 Mar 2021, Accepted 12 Apr 2021, Published online: 07 Oct 2021

References

  • Wang N, Ma Q, Peng P, Yu Y, Xu S, Wang G, et al. Autophagy and ubiquitin-proteasome system coordinate to regulate the protein quality control of neurodegenerative disease-associated DCTN1. Neurotox Res. 2020;37:48–57.
  • Hwang SH, Kim EJ, Hong YB, Joo J, Kim SM, Nam SH, et al. Distal hereditary motor neuropathy type 7B with Dynactin 1 mutation. Mol Med Rep. 2016;14:3362–8.
  • Richardson D, McEntagart MM, Isaacs JD. DCTN1-related Parkinson-plus disorder (Perry syndrome). Pract Neurol. 2020;20:317–9.
  • Procopio R, Gagliardi M, D’Amelio M, Brighina L, Nicoletti G, Morelli M, et al. DCTN1 mutation analysis in Italian patients with PSP, MSA, and DLB. Neurobiol Aging. 2020;93:143–5.
  • Liu Z, Lin H, Wei Q, Zhang Q, Chen C, Tao Q, et al. Genetic spectrum and variability in chinese patients with amyotrophic lateral sclerosis. Aging Dis. 2019;10:1199–206.
  • Munch C, Sedlmeier R, Meyer T, Homberg V, Sperfeld AD, Kurt A, et al. Point mutations of the p150 subunit of dynactin (DCTN1) gene in ALS. Neurology. 2004;63:724–6.
  • Li S, Finley J, Liu Z, Qiu S, Chen H, Luan C, et al. Crystal structure of the cytoskeleton-associated protein glycine-rich (CAP-Gly) domain. J Biol Chem. 2002;277:48596–601.
  • Liu ZJ, Li HF, Tan GH, Tao QQ, Ni W, Cheng XW, et al. Identify mutation in amyotrophic lateral sclerosis cases using HaloPlex target enrichment system. Neurobiol Aging. 2014;35:2811–81.
  • Yu J, Lai C, Shim H, Xie C, Sun L, Long C, et al. Genetic ablation of dynactin p150Glued in postnatal neurons causes preferential degeneration of spinal motor neurons in aged mice. Mol Neurodegener. 2018;13;13(1):10.
  • Moore JK, Sept D, Cooper JA. Neurodegeneration mutations in dynactin impair dynein-dependent nuclear migration. Proc Natl Acad Sci U S A. 2009;106:5147–52.
  • Gustavsson EK, Trinh J, Guella I, Szu-Tu C, Khinda J, Lin C, et al. DCTN1 p.K56R in progressive supranuclear palsy. Parkinsonism Relat D. 2016;28:56–61.
  • Zhang J, Wang H, Liu W, Wang J, Zhang J, Chang X, et al. A novel Q93H missense mutation in DCTN1 caused distal hereditary motor neuropathy type 7B and Perry syndrome from a Chinese family. Neurol Sci. 2021;42(9):3695–3705.

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