三名RFC1和FGF14基因重复扩增的欧洲患者的迟发性小脑共济失调：病例系列 - Suppr

Late-onset cerebellar ataxia in three European patients with repeat expansions in RFC1 and FGF14: a case series.

作者信息

Hocquel Armand, Pellerin David, Méreaux Jean Loup, Huin Vincent, Hadjivassiliou Marios, Clément Guillemette, Villa Felipe, Puisieux Salomé, Frismand Solène, Wandzel Marion, Roth Virginie, Wissocq Anna, Wirth Thomas, Danzi Matt C, Quadrio Isabelle, Zuchner Stephan, Lambert Laetitia, Mochel Fanny, Synofzik Matthis, Anheim Mathieu, Houlden Henry, Brice Alexis, Pourié Carine, Brais Bernard, Bonnet Céline, Durr Alexandra, Renaud Mathilde

机构信息

Service de Neurologie, Centre Hospitalier Régional Universitaire de Nancy, Nancy, France.

Service de Génétique Clinique, Centre Hospitalier Régional Universitaire de Nancy, Rue du Morvan, 54500, Vandoeuvre-lès-Nancy, France.

出版信息

J Neurol. 2025 Jul 10;272(8):500. doi: 10.1007/s00415-025-13234-6.

DOI:10.1007/s00415-025-13234-6

PMID:40637932

Abstract

摘要

相似文献

Late-onset cerebellar ataxia in three European patients with repeat expansions in RFC1 and FGF14: a case series.

J Neurol. 2025 Jul 10;272(8):500. doi: 10.1007/s00415-025-13234-6.

RFC1 and FGF14 Repeat Expansions in Serbian Patients with Cerebellar Ataxia.

Mov Disord Clin Pract. 2024 Jun;11(6):626-633. doi: 10.1002/mdc3.14020. Epub 2024 Mar 15.

Intronic GAA repeat expansions are a common cause of ataxia syndromes with neuropathy and bilateral vestibulopathy.

J Neurol Neurosurg Psychiatry. 2024 Jan 11;95(2):175-179. doi: 10.1136/jnnp-2023-331490.

Role of the repeat expansion size in predicting age of onset and severity in RFC1 disease.

Brain. 2024 May 3;147(5):1887-1898. doi: 10.1093/brain/awad436.

Comprehensive Characterisation of the RFC1 Repeat in an Australian Cohort.

Cerebellum. 2025 Jun 7;24(4):111. doi: 10.1007/s12311-025-01867-2.

Identification and characterisation of pathogenic and non-pathogenic FGF14 repeat expansions.

Nat Commun. 2024 Sep 3;15(1):7665. doi: 10.1038/s41467-024-52148-1.

Prevalence of intronic repeat expansions in the RFC1 gene in Polish patients with cerebellar syndrome.

J Appl Genet. 2025 Aug 13. doi: 10.1007/s13353-025-01000-3.

GAA-FGF14 Expansions and CACNA1A Variants: Phenotypic Overlap and Diagnostic Implications.

Mov Disord. 2025 Aug 19. doi: 10.1002/mds.30328.

Genetic and clinical features of cerebellar ataxia with biallelic repeat expansions in Japan.

Front Neurol. 2022 Aug 10;13:952493. doi: 10.3389/fneur.2022.952493. eCollection 2022.

Heterozygous and Homozygous Repeat Expansions are Common in Idiopathic Peripheral Neuropathy.

medRxiv. 2025 Apr 23:2025.04.18.25325809. doi: 10.1101/2025.04.18.25325809.

本文引用的文献

The genetic landscape of sporadic adult-onset degenerative ataxia: a multi-modal genetic study of 377 consecutive patients from the longitudinal multi-centre SPORTAX cohort.

EBioMedicine. 2025 May;115:105715. doi: 10.1016/j.ebiom.2025.105715. Epub 2025 Apr 23.

Involvement of the Superior Cerebellar Peduncles in GAA- Ataxia.

Neurol Genet. 2025 Feb 21;11(2):e200253. doi: 10.1212/NXG.0000000000200253. eCollection 2025 Apr.

Reply to: "Further Evidence of Cerebellar Cognitive Affective/Schmahmann Syndrome in RFC1-Related Syndrome".

Mov Disord. 2024 Jul;39(7):1248-1249. doi: 10.1002/mds.29886.

GAA-FGF14 disease: defining its frequency, molecular basis, and 4-aminopyridine response in a large downbeat nystagmus cohort.

EBioMedicine. 2024 Apr;102:105076. doi: 10.1016/j.ebiom.2024.105076. Epub 2024 Mar 19.

Clinical and genetic keys to cerebellar ataxia due to FGF14 GAA expansions.

EBioMedicine. 2024 Jan;99:104931. doi: 10.1016/j.ebiom.2023.104931. Epub 2023 Dec 27.

Natural History and Phenotypic Spectrum of GAA-FGF14 Sporadic Late-Onset Cerebellar Ataxia (SCA27B).

Mov Disord. 2023 Oct;38(10):1950-1956. doi: 10.1002/mds.29560. Epub 2023 Jul 20.

Intronic GAA repeat expansions are a common cause of ataxia syndromes with neuropathy and bilateral vestibulopathy.

J Neurol Neurosurg Psychiatry. 2024 Jan 11;95(2):175-179. doi: 10.1136/jnnp-2023-331490.

Optimized testing strategy for the diagnosis of GAA-FGF14 ataxia/spinocerebellar ataxia 27B.

Sci Rep. 2023 Jun 15;13(1):9737. doi: 10.1038/s41598-023-36654-8.

GAA-FGF14 ataxia (SCA27B): phenotypic profile, natural history progression and 4-aminopyridine treatment response.

Brain. 2023 Oct 3;146(10):4144-4157. doi: 10.1093/brain/awad157.

Deep Intronic GAA Repeat Expansion in Late-Onset Cerebellar Ataxia.

N Engl J Med. 2023 Jan 12;388(2):128-141. doi: 10.1056/NEJMoa2207406. Epub 2022 Dec 14.

文献AI研究员

20分钟写一篇综述，助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型，支持多种主流文档格式。

立即体验

Late-onset cerebellar ataxia in three European patients with repeat expansions in RFC1 and FGF14: a case series.

作者信息

机构信息

Service de Neurologie, Centre Hospitalier Régional Universitaire de Nancy, Nancy, France.

Service de Génétique Clinique, Centre Hospitalier Régional Universitaire de Nancy, Rue du Morvan, 54500, Vandoeuvre-lès-Nancy, France.

出版信息

J Neurol. 2025 Jul 10;272(8):500. doi: 10.1007/s00415-025-13234-6.

DOI:10.1007/s00415-025-13234-6

PMID:40637932

Abstract

摘要

相似文献

Late-onset cerebellar ataxia in three European patients with repeat expansions in RFC1 and FGF14: a case series.

J Neurol. 2025 Jul 10;272(8):500. doi: 10.1007/s00415-025-13234-6.

RFC1 and FGF14 Repeat Expansions in Serbian Patients with Cerebellar Ataxia.

Mov Disord Clin Pract. 2024 Jun;11(6):626-633. doi: 10.1002/mdc3.14020. Epub 2024 Mar 15.

Intronic GAA repeat expansions are a common cause of ataxia syndromes with neuropathy and bilateral vestibulopathy.

J Neurol Neurosurg Psychiatry. 2024 Jan 11;95(2):175-179. doi: 10.1136/jnnp-2023-331490.

Role of the repeat expansion size in predicting age of onset and severity in RFC1 disease.

Brain. 2024 May 3;147(5):1887-1898. doi: 10.1093/brain/awad436.

Comprehensive Characterisation of the RFC1 Repeat in an Australian Cohort.

Cerebellum. 2025 Jun 7;24(4):111. doi: 10.1007/s12311-025-01867-2.

Identification and characterisation of pathogenic and non-pathogenic FGF14 repeat expansions.

Nat Commun. 2024 Sep 3;15(1):7665. doi: 10.1038/s41467-024-52148-1.

Prevalence of intronic repeat expansions in the RFC1 gene in Polish patients with cerebellar syndrome.

J Appl Genet. 2025 Aug 13. doi: 10.1007/s13353-025-01000-3.

GAA-FGF14 Expansions and CACNA1A Variants: Phenotypic Overlap and Diagnostic Implications.

Mov Disord. 2025 Aug 19. doi: 10.1002/mds.30328.

Genetic and clinical features of cerebellar ataxia with biallelic repeat expansions in Japan.

Front Neurol. 2022 Aug 10;13:952493. doi: 10.3389/fneur.2022.952493. eCollection 2022.

Heterozygous and Homozygous Repeat Expansions are Common in Idiopathic Peripheral Neuropathy.

medRxiv. 2025 Apr 23:2025.04.18.25325809. doi: 10.1101/2025.04.18.25325809.

本文引用的文献

The genetic landscape of sporadic adult-onset degenerative ataxia: a multi-modal genetic study of 377 consecutive patients from the longitudinal multi-centre SPORTAX cohort.

EBioMedicine. 2025 May;115:105715. doi: 10.1016/j.ebiom.2025.105715. Epub 2025 Apr 23.

Involvement of the Superior Cerebellar Peduncles in GAA- Ataxia.

Neurol Genet. 2025 Feb 21;11(2):e200253. doi: 10.1212/NXG.0000000000200253. eCollection 2025 Apr.

Reply to: "Further Evidence of Cerebellar Cognitive Affective/Schmahmann Syndrome in RFC1-Related Syndrome".

Mov Disord. 2024 Jul;39(7):1248-1249. doi: 10.1002/mds.29886.

GAA-FGF14 disease: defining its frequency, molecular basis, and 4-aminopyridine response in a large downbeat nystagmus cohort.

EBioMedicine. 2024 Apr;102:105076. doi: 10.1016/j.ebiom.2024.105076. Epub 2024 Mar 19.

Clinical and genetic keys to cerebellar ataxia due to FGF14 GAA expansions.

EBioMedicine. 2024 Jan;99:104931. doi: 10.1016/j.ebiom.2023.104931. Epub 2023 Dec 27.

Natural History and Phenotypic Spectrum of GAA-FGF14 Sporadic Late-Onset Cerebellar Ataxia (SCA27B).

Mov Disord. 2023 Oct;38(10):1950-1956. doi: 10.1002/mds.29560. Epub 2023 Jul 20.

Intronic GAA repeat expansions are a common cause of ataxia syndromes with neuropathy and bilateral vestibulopathy.

J Neurol Neurosurg Psychiatry. 2024 Jan 11;95(2):175-179. doi: 10.1136/jnnp-2023-331490.

Optimized testing strategy for the diagnosis of GAA-FGF14 ataxia/spinocerebellar ataxia 27B.

Sci Rep. 2023 Jun 15;13(1):9737. doi: 10.1038/s41598-023-36654-8.

GAA-FGF14 ataxia (SCA27B): phenotypic profile, natural history progression and 4-aminopyridine treatment response.

Brain. 2023 Oct 3;146(10):4144-4157. doi: 10.1093/brain/awad157.

Deep Intronic GAA Repeat Expansion in Late-Onset Cerebellar Ataxia.

N Engl J Med. 2023 Jan 12;388(2):128-141. doi: 10.1056/NEJMoa2207406. Epub 2022 Dec 14.

Late-onset cerebellar ataxia in three European patients with repeat expansions in RFC1 and FGF14: a case series.

作者信息

机构信息

出版信息

相似文献

本文引用的文献

文献AI研究员

用中文搜PubMed

文档翻译

Suppr 超能文献

Late-onset cerebellar ataxia in three European patients with repeat expansions in RFC1 and FGF14: a case series.

作者信息

机构信息

出版信息

相似文献

本文引用的文献