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Novel RAB39B mutation (c.309G > A)-related spastic paraparasis: case report

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References

  1. Wilson GR, Sim JC, McLean C, Giannandrea M, Galea CA, Riseley JR, Stephenson SE, Fitzpatrick E, Haas SA, Pope K, Hogan KJ, Gregg RG, Bromhead CJ, Wargowski DS, Lawrence CH, James PA, Churchyard A, Gao Y, Phelan DG, Gillies G, Salce N, Stanford L, Marsh AP, Mignogna ML, Hayflick SJ, Leventer RJ, Delatycki MB, Mellick GD, Kalscheuer VM, D’Adamo P, Bahlo M, Amor DJ, Lockhart PJ (2014) Mutations in RAB39B cause X-linked intellectual disability and early-onset Parkinson disease with α-synuclein pathology. Am J Hum Genet 95(6):729–735. https://doi.org/10.1016/j.ajhg.2014.10.015

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  2. Tang BL (2021) RAB39B’s role in membrane traffic, autophagy, and associated neuropathology. J Cell Physiol 236(3):1579–1592. https://doi.org/10.1002/jcp.29962

    Article  CAS  PubMed  Google Scholar 

  3. Güldner M, Schulte C, Hauser AK, Gasser T, Brockmann K (2016) Broad clinical phenotype in Parkinsonism associated with a base pair deletion in RAB39B and additional POLG variant. Parkinsonism Relat Disord 31:148–150. https://doi.org/10.1016/j.parkreldis.2016.07.005

    Article  PubMed  Google Scholar 

  4. Cui F, Sun L, Qiao J, Xiong J, Zhao Y, Li J, Li M, Chen S, Huang X (2018) Hereditary and idiopathic spastic paraparesis: preliminary findings of a single center experience. Neurol Res 40(12):1088–1093. https://doi.org/10.1080/01616412.2018.1522412

    Article  PubMed  Google Scholar 

  5. Salinas S, Proukakis C, Crosby A, Warner TT (2008) Hereditary spastic paraplegia: clinical features and pathogenetic mechanisms. Lancet Neurol 7(12):1127–1138. https://doi.org/10.1016/S1474-4422(08)70258-8

    Article  CAS  PubMed  Google Scholar 

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Acknowledgements

This study is supported by National Natural Science Foundation of China (grant number: 81771391, receiver: Lifen Chen; Grant number: 82001367, receiver: Xi Liu), Natural Science Foundation of Chongqing (Grant number: cstc2021jcyj-msxmX0180, receiver: Xi Liu), and Kuanren Talent Program of The Second Affiliated Hospital of Chongqing Medical University (receiver: Xi Liu).

Funding

National Natural Science Foundation of China, 81771391, Lifen Chen, 82001367, Xi Liu, Natural Science Foundation Project of Chongqing, Chongqing Science and Technology Commission, cstc2021jcyj-msxmX0180, Xi Liu, The Second Affiliated Hospital of Chongqing Medical University.

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Authors and Affiliations

  1. Department of Neurology, The Second Affiliated Hospital of Chongqing Medical University, 74 Linjiang Road, Yuzhong District, Chongqing, 400010, China

    Hang Liu, Hongyu Lai, Lijuan Mo, Xi Liu & Lifen Chen

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  1. Hang Liu
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  2. Hongyu Lai
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  3. Lijuan Mo
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  4. Xi Liu
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  5. Lifen Chen
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Correspondence to Xi Liu or Lifen Chen.

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Liu, H., Lai, H., Mo, L. et al. Novel RAB39B mutation (c.309G > A)-related spastic paraparasis: case report. Acta Neurol Belg 123, 1597–1599 (2023). https://doi.org/10.1007/s13760-022-02114-9

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  • DOI: https://doi.org/10.1007/s13760-022-02114-9

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