一名被诊断为原发性进行性失语症和帕金森症的患者存在罕见的GRN基因突变。 - Suppr

Rare GRN mutation in a patient diagnosed with primary progressive aphasia and parkinsonism.

作者信息

Perković Romana, Jerčić Kristina Gotovac, Frančić Manuela, Ozretić David, Borovečki Fran

机构信息

Department of Neurology, University Hospital Center Zagreb, Zagreb, Croatia.

Department of Functional Genomics, Center for Translational and Clinical Research, University of Zagreb School of Medicine, Zagreb, Croatia.

出版信息

Acta Neurol Belg. 2023 Apr;123(2):727-729. doi: 10.1007/s13760-022-02064-2. Epub 2022 Aug 18.

DOI:10.1007/s13760-022-02064-2

PMID:35980504

Abstract

摘要

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Rare GRN mutation in a patient diagnosed with primary progressive aphasia and parkinsonism.

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本文引用的文献

Frontotemporal dementia.

Lancet. 2015 Oct 24;386(10004):1672-82. doi: 10.1016/S0140-6736(15)00461-4.

Classification of primary progressive aphasia and its variants.

Neurology. 2011 Mar 15;76(11):1006-14. doi: 10.1212/WNL.0b013e31821103e6. Epub 2011 Feb 16.

Molecular characterization of novel progranulin (GRN) mutations in frontotemporal dementia.

Hum Mutat. 2008 Apr;29(4):512-21. doi: 10.1002/humu.20681.

Mutations in progranulin cause tau-negative frontotemporal dementia linked to chromosome 17.

Nature. 2006 Aug 24;442(7105):916-9. doi: 10.1038/nature05016. Epub 2006 Jul 16.

Cellular localization of gene expression for progranulin.

J Histochem Cytochem. 2000 Jul;48(7):999-1009. doi: 10.1177/002215540004800713.

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相似文献

Rare GRN mutation in a patient diagnosed with primary progressive aphasia and parkinsonism.

Acta Neurol Belg. 2023 Apr;123(2):727-729. doi: 10.1007/s13760-022-02064-2. Epub 2022 Aug 18.

Crossed aphasia in nonfluent variant of primary progressive aphasia carrying a GRN mutation.

J Neurol Sci. 2018 Sep 15;392:34-37. doi: 10.1016/j.jns.2018.06.026. Epub 2018 Jun 30.

Rapidly progressive primary progressive aphasia and parkinsonism with novel GRN mutation.

Mov Disord. 2017 Mar;32(3):476-478. doi: 10.1002/mds.26872. Epub 2016 Nov 15.

Genetic and functional characters of GRN p.T487I mutation in Taiwanese patients with atypical parkinsonian disorders.

Parkinsonism Relat Disord. 2018 Jun;51:61-66. doi: 10.1016/j.parkreldis.2018.02.045. Epub 2018 Feb 28.

One novel GRN null mutation, two different aphasia phenotypes.

Neurobiol Aging. 2020 Mar;87:141.e9-141.e14. doi: 10.1016/j.neurobiolaging.2019.11.008. Epub 2019 Nov 12.

Homozygous GRN mutations: new phenotypes and new insights into pathological and molecular mechanisms.

Brain. 2020 Jan 1;143(1):303-319. doi: 10.1093/brain/awz377.

Primary Progressive Aphasia Associated With Mutations: New Insights Into the Nonamyloid Logopenic Variant.

Neurology. 2021 Jul 6;97(1):e88-e102. doi: 10.1212/WNL.0000000000012174. Epub 2021 May 12.

Genetic screen in a large series of patients with primary progressive aphasia.

Alzheimers Dement. 2019 Apr;15(4):553-560. doi: 10.1016/j.jalz.2018.10.009. Epub 2019 Jan 25.

Frontotemporal Dementia due to the Novel GRN Arg161GlyfsX36 Mutation.

J Alzheimers Dis. 2017;57(4):1185-1189. doi: 10.3233/JAD-170066.

Crossed aphasia confirmed by fMRI in a case with nonfluent variant of primary progressive aphasia carrying a GRN mutation.

J Neurol. 2019 May;266(5):1274-1279. doi: 10.1007/s00415-019-09298-w. Epub 2019 Mar 29.

本文引用的文献

Frontotemporal dementia.

Lancet. 2015 Oct 24;386(10004):1672-82. doi: 10.1016/S0140-6736(15)00461-4.

Classification of primary progressive aphasia and its variants.

Neurology. 2011 Mar 15;76(11):1006-14. doi: 10.1212/WNL.0b013e31821103e6. Epub 2011 Feb 16.

Molecular characterization of novel progranulin (GRN) mutations in frontotemporal dementia.

Hum Mutat. 2008 Apr;29(4):512-21. doi: 10.1002/humu.20681.

Mutations in progranulin cause tau-negative frontotemporal dementia linked to chromosome 17.

Nature. 2006 Aug 24;442(7105):916-9. doi: 10.1038/nature05016. Epub 2006 Jul 16.

Cellular localization of gene expression for progranulin.

J Histochem Cytochem. 2000 Jul;48(7):999-1009. doi: 10.1177/002215540004800713.

Rare GRN mutation in a patient diagnosed with primary progressive aphasia and parkinsonism.

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