An unusual case of a spasticity-lacking phenotype with a novel SACS mutation
An unusual case of a spasticity-lacking phenotype with a novel SACS mutation
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DOI：
10.1016/j.jns.2007.02.002
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发表时间：
2007-04-15
影响因子：
4.4
通讯作者：
Takiyama, Yoshihisa
中科院分区：
文献类型：
--
作者：
Shimazaki, Haruo;Sakoe, Kumi;Takiyama, Yoshihisa
作者描述了一例不寻常的常染色体隐性遗传性痉挛性共济失调的Charlevoix-Saguenay（ARSACS），没有腿部痉挛，这是ARSACS的核心临床特征。这是ARSACS中第二个缺乏痉挛表型的家族。一项外周神经传导研究显示，随着疾病进展，运动和感觉神经传导速度降低。尽管据报道腿部痉挛在疾病期间逐渐恶化，并且在老年患者中普遍存在，但我们首先观察到症状消失，可能是由于疾病过程中进行性周围神经变性。因此，我们应该分析SACS基因，即使在早发性小脑共济失调的情况下，没有痉挛。患者有一个新的纯合2碱基对缺失突变（c.5988-9 del CT）的SACS基因，但基因型是不同的，在我们的第一个家庭的这种表型。进一步的基因型-表型相关性研究是必要的，以澄清“sacsinopathies”的分子机制。(c)2007 Elsevier B.V保留所有权利。
The authors describe an unusual case of autosomal recessive spastic ataxia of Charlevoix- Saguenay (ARSACS) without leg spasticity, which is a core clinical feature of ARSACS. This is the second family with a spasticity-lacking phenotype in ARSACS. A peripheral nerve conduction study disclosed decreases in motor and sensory nerve conduction velocities with the disease progression. Although the leg spasticity is reported to become progressively worse during the disease and is prevalent in older patients, we first observed that the symptom had disappeared, probably due to the progressive peripheral nerve degeneration in the disease course. Thus, we should analyze the SACS gene even in cases of early-onset cerebellar ataxia without spasticity. The patient had a novel homozygous 2-base pair deletion mutation (c.5988-9 del CT) of the SACS gene, but the genotype was different from that in our first family of this phenotype. A further genotype-phenotype correlation study is required to clarify the molecular mechanism underlying 'sacsinopathies'. (c) 2007 Elsevier B.V All rights reserved.