与一种新的KIF5A突变相关的家族性可变痉挛性截瘫/共济失调/肌萎缩侧索硬化症表型 - Suppr

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

作者信息

Faruq Mohammed, Kumar Deepak, Wadhwa Saruchi, Shamim Uzma, Mathur Aradhana, Parveen Shaista, Garg Ajay, Srivastava Achal K

机构信息

Genomics and Molecular Medicine, CSIR-Institute of Genomics and Integrative Biology, New Delhi, India.

Department of Neuro-radiology, All India Institute of Medical Sciences, Delhi, India.

出版信息

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

DOI:10.1111/cge.13585

PMID:31286494

Abstract

摘要

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

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引用本文的文献

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

作者信息

Faruq Mohammed, Kumar Deepak, Wadhwa Saruchi, Shamim Uzma, Mathur Aradhana, Parveen Shaista, Garg Ajay, Srivastava Achal K

机构信息

Genomics and Molecular Medicine, CSIR-Institute of Genomics and Integrative Biology, New Delhi, India.

Department of Neuro-radiology, All India Institute of Medical Sciences, Delhi, India.

出版信息

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

DOI:10.1111/cge.13585

PMID:31286494

Abstract

摘要

相似文献

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.

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

Increasing involvement of CAPN1 variants in spastic ataxias and phenotype-genotype correlations.

Neurogenetics. 2021 Mar;22(1):71-79. doi: 10.1007/s10048-020-00633-2. Epub 2021 Jan 23.

Neurological Phenotypes Associated with AAAS-Related Disorders: Spastic Ataxia and Complex Spastic Paraplegia.

Cerebellum. 2020 Jun;19(3):465-468. doi: 10.1007/s12311-020-01123-9.

Subtle Imaging Findings Aid the Diagnosis of Adolescent Hereditary Spastic Paraplegia and Ataxia.

Clin Neuroradiol. 2019 Jun;29(2):215-221. doi: 10.1007/s00062-018-0665-5. Epub 2018 Jan 29.

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.

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.

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

Hypomorphic mutations in POLR3A are a frequent cause of sporadic and recessive spastic ataxia.

Brain. 2017 Jun 1;140(6):1561-1578. doi: 10.1093/brain/awx095.

Progressive ataxia of Charolais cattle highlights a role of KIF1C in sustainable myelination.

PLoS Genet. 2018 Aug 1;14(8):e1007550. doi: 10.1371/journal.pgen.1007550. eCollection 2018 Aug.

引用本文的文献

ALS-linked KIF5A ΔExon27 mutant causes neuronal toxicity through gain-of-function.

EMBO Rep. 2022 Aug 3;23(8):e54234. doi: 10.15252/embr.202154234. Epub 2022 Jun 23.

Splice-site mutations in KIF5A in the Japanese case series of amyotrophic lateral sclerosis.

Neurogenetics. 2021 Mar;22(1):11-17. doi: 10.1007/s10048-020-00626-1. Epub 2020 Aug 19.

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

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

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