Phenotypic spectrum of hereditary neuralgic amyotrophy caused by the SEPT9 R88W mutation
Phenotypic spectrum of hereditary neuralgic amyotrophy caused by the SEPT9 R88W mutation
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DOI：
10.1136/jnnp.2008.168260
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发表时间：
2010-01-10
影响因子：
11
通讯作者：
Kira, J-i
中科院分区：
文献类型：
--
作者：
Ueda, M.;Kawamura, N.;Kira, J-i
背景：遗传性神经痛性肌萎缩症（HNA），又称遗传性臂丛神经病，具有表型和遗传异质性。最近在一些HNA患者中发现了Septin 9（SEPT9）基因突变。目的：探讨一个SEPT9 R88W突变的HNA患者大家族的表型，方法：我们报道了一个日本家族的6例HNA患者的临床、电生理、神经影像学和遗传学表现。16例（94%）以剧烈疼痛为首发症状。15例（88%）出现运动无力，10例（59%）出现感觉体征。一个轻微的畸形，距离缩短，被认为是在所有。神经传导研究显示局灶性脱髓鞘以及突出的轴突变性变化。针肌电图显示慢性神经源性模式，仅在上肢。MRI研究显示钆增强臂丛神经。结论：该家系中SEPT9基因R88W突变导致臂丛神经和上肢神经选择性受累。对临床特征和遗传咨询的更广泛和更普遍的认识对于SEPT9突变引起的HNA具有诊断重要性。
Background: Hereditary neuralgic amyotrophy (HNA), also known as hereditary brachial plexus neuropathy, has phenotypic and genetic heterogeneity. Mutations in the septin 9 (SEPT9) gene were recently identified in some HNA patients. The phenotypic spectrum of HNA caused by SEPT9 mutations is not well known.Objective: To characterise the phenotype of a large family of HNA patients with the SEPT9 R88W mutation.Methods: We report clinical, electrophysiological, neuroimaging and genetic findings of six HNA patients from a Japanese family.Results: All 17 neuropathic episodes identified were selectively and asymmetrically distributed in the upperlimb nerves. Severe pain was an initial symptom in 16 episodes (94%). Motor weakness occurred in 15 (88%) and sensory signs in 10 (59%). A minor dysmorphism, hypotelorism, was seen in all. Nerve conduction studies revealed focal demyelination as well as prominent axonal degeneration changes. Needle electromyography revealed chronic neurogenic patterns only in the upper limbs. An MRI study showed a gadolinium-enhanced brachial plexus. The missense mutation c.262C>T; p. R88W was found in exon 2 of SEPT9 in all patients.Conclusions: The SEPT9 R88W mutation in this family causes selective involvement of the brachial plexus and upper-limb nerves. Wider and more universal recognition of clinical hallmarks and genetic counselling are of diagnostic importance for HNA caused by the SEPT9 mutation.