Novel SPAST Deletion Mutation in an American Family With Hereditary Spastic Paraplegia: A Case Report.

IF 0.9 Q3 MEDICINE, GENERAL & INTERNAL
Sydney B Bhopatkar, Juebin Huang
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引用次数: 0

Abstract

The diverse group of neurodegenerative disorders known as hereditary spastic paraplegia (HSP) is characterized by spasticity and weakness of the bilateral lower extremity due to degeneration of the corticospinal tract. The pathogenesis of HSP is broad, with autosomal dominant, autosomal recessive, X-linked recessive, mitochondrial inheritance, and de novo mutations reported, along with remarkable heterogeneity of mutations and clinical presentation. Of these, the most common subtype of HSP is HSP type 4 (HSP-SPG4), a result of mutations in the SPAST gene (chromosome 2p22.3) that leads to impaired activity of the microtubule-severing protein spastin. Typically presenting as an uncomplicated, autosomal dominant form of the disease, HSP-SPG4 has been documented worldwide with vast genomic variance across the SPAST gene. Despite common features in clinical phenotypes, a clear link between SPAST gene variants and disease presentation remains vague. Here, we report a novel 26.1 kb deletion in the SPAST gene (del exons 4-7) in a US family with previously undiagnosed HSP-SPG4.

一个美国家族遗传性痉挛性截瘫患者的新型SPAST缺失突变:一例报告。
遗传性痉挛性截瘫(HSP)是一种神经退行性疾病,其特点是双侧下肢因皮质脊髓束变性而出现痉挛和无力。HSP的发病机制广泛,常染色体显性、常染色体隐性、x连锁隐性、线粒体遗传和新生突变均有报道,且突变和临床表现具有显著的异质性。其中,最常见的HSP亚型是HSP 4型(HSP- spg4),这是SPAST基因(染色体2p22.3)突变导致切断微管蛋白spastin活性受损的结果。HSP-SPG4通常表现为一种简单的常染色体显性遗传病,在世界范围内,SPAST基因存在巨大的基因组差异。尽管在临床表型中有共同的特征,SPAST基因变异和疾病表现之间的明确联系仍然模糊。在这里,我们报告了一个以前未诊断的HSP-SPG4的美国家庭中SPAST基因(del外显子4-7)的26.1 kb的新缺失。
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来源期刊
CiteScore
1.90
自引率
0.00%
发文量
165
审稿时长
12 weeks
期刊介绍: The AFMR is committed to enhancing the training and career development of our members and to furthering its mission to facilitate the conduct of research to improve medical care. Case reports represent an important avenue for trainees (interns, residents, and fellows) and early-stage faculty to demonstrate productive, scholarly activity.
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