额颞叶痴呆与帕金森病之间存在关联的遗传学证据：以RAB32 Ser71Arg为例。 - Suppr

Genetic evidence for a link between frontotemporal dementia and Parkinson's disease: the case of RAB32 Ser71Arg.

作者信息

Panzavolta Andrea, Cavallieri Francesco, Valzania Franco, Radefeldt Mandy, Lemke Sabrina, Paul Jefri Jeya, Curado Filipa, Bauer Peter, Beetz Christian, Cerami Chiara

机构信息

IUSS Cognitive Neuroscience (ICoN) Centre, Scuola Universitaria Superiore IUSS Di Pavia, Piazza Della Vittoria 15, 27100, Pavia, Italy.

Neuromotor and Rehabilitation Department, Neurology Unit, Azienda USL-IRCCS Di Reggio Emilia, Reggio Emilia, Italy.

出版信息

J Neurol. 2024 Dec 16;272(1):72. doi: 10.1007/s00415-024-12746-x.

DOI:10.1007/s00415-024-12746-x

PMID:39680152

Abstract

摘要

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Genetic evidence for a link between frontotemporal dementia and Parkinson's disease: the case of RAB32 Ser71Arg.

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Confirmation of RAB32 Ser71Arg Involvement in Parkinson's Disease.

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本文引用的文献

Systematic rare variant analyses identify RAB32 as a susceptibility gene for familial Parkinson's disease.

Nat Genet. 2024 Jul;56(7):1371-1376. doi: 10.1038/s41588-024-01787-7. Epub 2024 Jun 10.

RAB32 Ser71Arg in autosomal dominant Parkinson's disease: linkage, association, and functional analyses.

Lancet Neurol. 2024 Jun;23(6):603-614. doi: 10.1016/S1474-4422(24)00121-2. Epub 2024 Apr 10.

Genetic determinants of survival in progressive supranuclear palsy: a genome-wide association study.

Lancet Neurol. 2021 Feb;20(2):107-116. doi: 10.1016/S1474-4422(20)30394-X. Epub 2020 Dec 17.

Identification of Candidate COVID-19 Therapeutics using hPSC-derived Lung Organoids.

bioRxiv. 2020 May 5:2020.05.05.079095. doi: 10.1101/2020.05.05.079095.

Alzheimer's disease tau is a prominent pathology in LRRK2 Parkinson's disease.

Acta Neuropathol Commun. 2019 Nov 16;7(1):183. doi: 10.1186/s40478-019-0836-x.

The emerging role of Rab GTPases in the pathogenesis of Parkinson's disease.

Mov Disord. 2018 Feb;33(2):196-207. doi: 10.1002/mds.27270. Epub 2018 Jan 9.

Study of LRRK2 variation in tauopathy: Progressive supranuclear palsy and corticobasal degeneration.

Mov Disord. 2017 Jan;32(1):115-123. doi: 10.1002/mds.26815. Epub 2016 Oct 6.

Prevalence, characteristics, and survival of frontotemporal lobar degeneration syndromes.

Neurology. 2016 May 3;86(18):1736-43. doi: 10.1212/WNL.0000000000002638. Epub 2016 Apr 1.

Frontotemporal lobar degeneration: defining phenotypic diversity through personalized medicine.

Acta Neuropathol. 2015 Apr;129(4):469-91. doi: 10.1007/s00401-014-1380-1. Epub 2014 Dec 31.

LRRK2 exonic variants and risk of multiple system atrophy.

Neurology. 2014 Dec 9;83(24):2256-61. doi: 10.1212/WNL.0000000000001078. Epub 2014 Nov 5.

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Genetic evidence for a link between frontotemporal dementia and Parkinson's disease: the case of RAB32 Ser71Arg.

作者信息

Panzavolta Andrea, Cavallieri Francesco, Valzania Franco, Radefeldt Mandy, Lemke Sabrina, Paul Jefri Jeya, Curado Filipa, Bauer Peter, Beetz Christian, Cerami Chiara

机构信息

IUSS Cognitive Neuroscience (ICoN) Centre, Scuola Universitaria Superiore IUSS Di Pavia, Piazza Della Vittoria 15, 27100, Pavia, Italy.

Neuromotor and Rehabilitation Department, Neurology Unit, Azienda USL-IRCCS Di Reggio Emilia, Reggio Emilia, Italy.

出版信息

J Neurol. 2024 Dec 16;272(1):72. doi: 10.1007/s00415-024-12746-x.

DOI:10.1007/s00415-024-12746-x

PMID:39680152

Abstract

摘要

相似文献

Genetic evidence for a link between frontotemporal dementia and Parkinson's disease: the case of RAB32 Ser71Arg.

J Neurol. 2024 Dec 16;272(1):72. doi: 10.1007/s00415-024-12746-x.

RAB32 Ser71Arg in autosomal dominant Parkinson's disease: linkage, association, and functional analyses.

Lancet Neurol. 2024 Jun;23(6):603-614. doi: 10.1016/S1474-4422(24)00121-2. Epub 2024 Apr 10.

RAB32 Ser71Arg in Chinese patients with Parkinson's disease.

Neurol Sci. 2025 Mar;46(3):1379-1381. doi: 10.1007/s10072-024-07910-0. Epub 2024 Dec 9.

A pathogenic variant in RAB32 causes autosomal dominant Parkinson's disease and activates LRRK2 kinase.

medRxiv. 2024 Jan 18:2024.01.17.24300927. doi: 10.1101/2024.01.17.24300927.

Genetic and Epidemiological Insights into RAB32-Linked Parkinson's Disease.

Mov Disord. 2025 Jan;40(1):147-151. doi: 10.1002/mds.30041. Epub 2024 Oct 26.

The RAB32 p.Ser71Arg Variant in Parkinsonisms: Insights from a Large Italian Cohort.

Mov Disord. 2025 Mar;40(3):511-516. doi: 10.1002/mds.30103. Epub 2024 Dec 31.

Confirmation of RAB32 Ser71Arg Involvement in Parkinson's Disease.

Mov Disord. 2025 Jan;40(1):174-175. doi: 10.1002/mds.30024. Epub 2024 Sep 23.

Editorial on: Confirmation of RAB32 Ser71Arg involvement in Parkinson's disease.

Mov Disord. 2025 Jan;40(1):5-6. doi: 10.1002/mds.30080.

Identification of Ser71Arg mutation in RAB32 gene in familial Parkinson's disease from Southern Italy.

NPJ Parkinsons Dis. 2025 Mar 21;11(1):52. doi: 10.1038/s41531-025-00915-2.

18F-FDG PET findings in Parkinson's disease associated to RAB32 S71R variant.

Parkinsonism Relat Disord. 2025 May;134:107343. doi: 10.1016/j.parkreldis.2025.107343. Epub 2025 Feb 28.

本文引用的文献

Systematic rare variant analyses identify RAB32 as a susceptibility gene for familial Parkinson's disease.

Nat Genet. 2024 Jul;56(7):1371-1376. doi: 10.1038/s41588-024-01787-7. Epub 2024 Jun 10.

RAB32 Ser71Arg in autosomal dominant Parkinson's disease: linkage, association, and functional analyses.

Lancet Neurol. 2024 Jun;23(6):603-614. doi: 10.1016/S1474-4422(24)00121-2. Epub 2024 Apr 10.

Genetic determinants of survival in progressive supranuclear palsy: a genome-wide association study.

Lancet Neurol. 2021 Feb;20(2):107-116. doi: 10.1016/S1474-4422(20)30394-X. Epub 2020 Dec 17.

Identification of Candidate COVID-19 Therapeutics using hPSC-derived Lung Organoids.

bioRxiv. 2020 May 5:2020.05.05.079095. doi: 10.1101/2020.05.05.079095.

Alzheimer's disease tau is a prominent pathology in LRRK2 Parkinson's disease.

Acta Neuropathol Commun. 2019 Nov 16;7(1):183. doi: 10.1186/s40478-019-0836-x.

The emerging role of Rab GTPases in the pathogenesis of Parkinson's disease.

Mov Disord. 2018 Feb;33(2):196-207. doi: 10.1002/mds.27270. Epub 2018 Jan 9.

Study of LRRK2 variation in tauopathy: Progressive supranuclear palsy and corticobasal degeneration.

Mov Disord. 2017 Jan;32(1):115-123. doi: 10.1002/mds.26815. Epub 2016 Oct 6.

Prevalence, characteristics, and survival of frontotemporal lobar degeneration syndromes.

Neurology. 2016 May 3;86(18):1736-43. doi: 10.1212/WNL.0000000000002638. Epub 2016 Apr 1.

Frontotemporal lobar degeneration: defining phenotypic diversity through personalized medicine.

Acta Neuropathol. 2015 Apr;129(4):469-91. doi: 10.1007/s00401-014-1380-1. Epub 2014 Dec 31.

LRRK2 exonic variants and risk of multiple system atrophy.

Neurology. 2014 Dec 9;83(24):2256-61. doi: 10.1212/WNL.0000000000001078. Epub 2014 Nov 5.

Genetic evidence for a link between frontotemporal dementia and Parkinson's disease: the case of RAB32 Ser71Arg.

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Genetic evidence for a link between frontotemporal dementia and Parkinson's disease: the case of RAB32 Ser71Arg.

作者信息

机构信息

出版信息

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