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Rapid Communication | Open Access

Clinical and genetic heterogeneity of adult polyglucosan body disease caused by GBE1 biallelic mutations in China

Yikun Chena,1Yan Shib,1Yuan Gaoa,1Yan HucLinying ZhoucJingmei HongaShirui GanaXiang LinaWanjin ChenaGuorong Xua( )Jin Hea( )
Department of Neurology and Institute of Neurology of First Affiliated Hospital, Institute of Neuroscience, and Fujian Key Laboratory of Molecular Neurology, Fujian Medical University, Fuzhou, Fujian 350005, China
Fujian Key Laboratory of Molecular Neurology, Institute of Neuroscience, Fujian Medical University, Fuzhou, Fujian 350005, China
Electron Microscopy Lab of Public Technology Service Center, Fujian Medical University, Fuzhou, Fujian 350005, China

Peer review under responsibility of Chongqing Medical University.

1 The authors contributed equally to this work.

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References

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Robitaille Y, Carpenter S, Karpati G, DiMauro SD. A distinct form of adult polyglucosan body disease with massive involvement of central and peripheral neuronal processes and astrocytes: a report of four cases and a review of the occurrence of polyglucosan bodies in other conditions such as Lafora's disease and normal ageing. Brain. 1980;103(2):315–336.

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Souza PVS, Badia BML, Farias IB, et al. GBE1-related disorders: adult polyglucosan body disease and its neuromuscular phenotypes. J Inherit Metab Dis. 2021;44(3):534–543.

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Hastings PJ, Lupski JR, Rosenberg SM, Ira G. Mechanisms of change in gene copy number. Nat Rev Genet. 2009;10(8):551–564.

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Hellmann MA, Kakhlon O, Landau EH, et al. Frequent misdiagnosis of adult polyglucosan body disease. J Neurol. 2015;262(10):2346–2351.

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Cenacchi G, Papa V, Costa R, et al. Update on polyglucosan storage diseases. Virchows Arch. 2019;475(6):671–686.

Genes & Diseases
Article number: 101140
Cite this article:
Chen Y, Shi Y, Gao Y, et al. Clinical and genetic heterogeneity of adult polyglucosan body disease caused by GBE1 biallelic mutations in China. Genes & Diseases, 2024, 11(5): 101140. https://doi.org/10.1016/j.gendis.2023.101140

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Received: 02 January 2023
Published: 16 October 2023
© 2023 The Authors.

This is an open access article under the CC BY license (http://creativecommons.org/licenses/by/4.0/).

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