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Two cases of early-onset autosomal recessive spastic ataxia of Charlevoix-Saguenay diagnosed in adulthood.

作者信息

Sahin Turgut, Karaarslan Fatma Tugra, Yilmaz Rezzak, Tekgül Şeyma, Başak Ayşe Nazlı, Akbostanci Muhittin Cenk

机构信息

Ankara University, Faculty of Medicine, Talatpasa Street 82 Altindag, 06310, Ankara, Turkey.

出版信息

Clin Neurol Neurosurg. 2021 Feb;201:106423. doi: 10.1016/j.clineuro.2020.106423. Epub 2020 Dec 8.

DOI:10.1016/j.clineuro.2020.106423

PMID:33348119

Abstract

摘要

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Two cases of early-onset autosomal recessive spastic ataxia of Charlevoix-Saguenay diagnosed in adulthood.

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引用本文的文献

Documenting manifestations and impacts of autosomal recessive spastic ataxia of Charlevoix-Saguenay to develop patient-reported outcome.

Orphanet J Rare Dis. 2022 Oct 1;17(1):369. doi: 10.1186/s13023-022-02497-1.

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Two cases of early-onset autosomal recessive spastic ataxia of Charlevoix-Saguenay diagnosed in adulthood.

作者信息

Sahin Turgut, Karaarslan Fatma Tugra, Yilmaz Rezzak, Tekgül Şeyma, Başak Ayşe Nazlı, Akbostanci Muhittin Cenk

机构信息

Ankara University, Faculty of Medicine, Talatpasa Street 82 Altindag, 06310, Ankara, Turkey.

出版信息

Clin Neurol Neurosurg. 2021 Feb;201:106423. doi: 10.1016/j.clineuro.2020.106423. Epub 2020 Dec 8.

DOI:10.1016/j.clineuro.2020.106423

PMID:33348119

Abstract

摘要

相似文献

Two cases of early-onset autosomal recessive spastic ataxia of Charlevoix-Saguenay diagnosed in adulthood.

Clin Neurol Neurosurg. 2021 Feb;201:106423. doi: 10.1016/j.clineuro.2020.106423. Epub 2020 Dec 8.

Exome sequencing & homozygosity mapping for identification of genetic aetiology for spastic ataxia in a consanguineous family.

Indian J Med Res. 2015 Aug;142(2):220-4. doi: 10.4103/0971-5916.164262.

The "broken wishbone" splenial sign: A diagnostic hallmark for SPG54 spastic ataxia.

J Neurol Sci. 2019 Aug 15;403:114-116. doi: 10.1016/j.jns.2019.06.012. Epub 2019 Jun 13.

Intern Med. 2013;52(14):1629-33. doi: 10.2169/internalmedicine.52.0252. Epub 2013 Jul 15.

Intrafamilial variable spastic paraplegia/ataxia/ALS phenotype linked to a novel KIF5A mutation.

Clin Genet. 2019 Sep;96(3):271-273. doi: 10.1111/cge.13585. Epub 2019 Jul 8.

Clinical and Neuropathological Features of Spastic Ataxia in a Spanish Family with Novel Compound Heterozygous Mutations in STUB1.

Cerebellum. 2015 Jun;14(3):378-81. doi: 10.1007/s12311-014-0643-7.

Late-onset spastic ataxia phenotype in a patient with a homozygous DDHD2 mutation.

Sci Rep. 2014 Nov 24;4:7132. doi: 10.1038/srep07132.

CAPN1 mutations: Expanding the CAPN1-related phenotype: From hereditary spastic paraparesis to spastic ataxia.

Eur J Med Genet. 2019 Dec;62(12):103605. doi: 10.1016/j.ejmg.2018.12.010. Epub 2018 Dec 17.

Cerebellum. 2013 Aug;12(4):589-92. doi: 10.1007/s12311-013-0451-5.

Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) - A Polish family with novel SACS mutations.

Neurol Neurochir Pol. 2017 Nov-Dec;51(6):481-485. doi: 10.1016/j.pjnns.2017.08.003. Epub 2017 Aug 17.

引用本文的文献

Documenting manifestations and impacts of autosomal recessive spastic ataxia of Charlevoix-Saguenay to develop patient-reported outcome.

Orphanet J Rare Dis. 2022 Oct 1;17(1):369. doi: 10.1186/s13023-022-02497-1.