患有新型从头变异体的脊髓小脑共济失调48型患者 - Suppr

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Spinocerebellar Ataxia 48 Patient With a Novel De Novo Variant of .

作者信息

Choi Soyoun, Park Soo Ryun, Jang Ja-Hyun, Ahn Jong Hyeon

机构信息

Department of Neurology, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.

Neuroscience Center, Samsung Medical Center, Seoul, Korea.

出版信息

J Clin Neurol. 2022 Nov;18(6):714-716. doi: 10.3988/jcn.2022.18.6.714.

DOI:10.3988/jcn.2022.18.6.714

PMID:36367069

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC9669560/

Abstract

摘要

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/964d/9669560/65f51b38c254/jcn-18-714-g001.jpg

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本文引用的文献

Clinical and functional characterization of a novel STUB1 frameshift mutation in autosomal dominant spinocerebellar ataxia type 48 (SCA48).

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J Neurol. 2021 Oct;268(10):3845-3851. doi: 10.1007/s00415-021-10524-7. Epub 2021 Apr 3.

Expanding the clinical spectrum of STIP1 homology and U-box containing protein 1-associated ataxia.

J Neurol. 2021 May;268(5):1927-1937. doi: 10.1007/s00415-020-10348-x. Epub 2021 Jan 8.

Clinical, neuropathological, and genetic characterization of STUB1 variants in cerebellar ataxias: a frequent cause of predominant cognitive impairment.

Genet Med. 2020 Nov;22(11):1851-1862. doi: 10.1038/s41436-020-0899-x. Epub 2020 Jul 27.

Spinocerebellar ataxia type 48: last but not least.

Neurol Sci. 2020 Sep;41(9):2423-2432. doi: 10.1007/s10072-020-04408-3. Epub 2020 Apr 27.

The "crab sign": an imaging feature of spinocerebellar ataxia type 48.

Neuroradiology. 2020 Sep;62(9):1095-1103. doi: 10.1007/s00234-020-02427-7. Epub 2020 Apr 14.

Of cognition and cerebellum in SCA48.

Neurogenetics. 2020 Apr;21(2):145-146. doi: 10.1007/s10048-020-00603-8. Epub 2020 Feb 3.

The complex phenotype of spinocerebellar ataxia type 48 in eight unrelated Italian families.

Eur J Neurol. 2020 Mar;27(3):498-505. doi: 10.1111/ene.14094. Epub 2019 Nov 1.

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Neurology. 2018 Nov 20;91(21):e1988-e1998. doi: 10.1212/WNL.0000000000006550. Epub 2018 Oct 31.

ClinVar: public archive of interpretations of clinically relevant variants.

Nucleic Acids Res. 2016 Jan 4;44(D1):D862-8. doi: 10.1093/nar/gkv1222. Epub 2015 Nov 17.

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