NATURAL HISTORY AND BIOMARKERS IN HEREDITARY SENSORY NEUROPATHY TYPE 1
NATURAL HISTORY AND BIOMARKERS IN HEREDITARY SENSORY NEUROPATHY TYPE 1
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DOI：
10.1002/mus.24336
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发表时间：
2015-04-01
期刊：
影响因子：
3.4
通讯作者：
Eichler, Florian S.
中科院分区：
文献类型：
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作者：
Fridman, Vera;Oaklander, Anne Louise;Eichler, Florian S.
遗传性感觉和自主神经病变1型（HSAN 1）最常见的是由SPTLC 1的错义突变引起的。在这项研究中，我们绘制了症状进展，并比较了结果的效用。研究方法：我们对症状进行了回顾性调查，并分析了神经传导、自主神经功能测试（AFT）和PGP9.5免疫标记皮肤活检的结果。结果：首发症状普遍感觉，发生在中位年龄20岁（范围14-54岁）。随后依次出现虚弱、溃疡、疼痛和平衡问题。皮肤活检显示普遍缺乏表皮神经支配的远端腿与相对保存在大腿。神经突密度与总Charcot-Marie-Tooth检查评分（CMTES; r（2）=-0.8）和运动幅度中位数（r（2）=-0.75）高度相关。结论：这些结果证实了感觉丧失是HSAN 1的初始症状，并表明皮肤活检可能是未来临床试验中最有希望的生物标志物。肌肉神经，2015肌肉神经51：489-495，2015
Introduction: Hereditary sensory and autonomic neuropathy type 1 (HSAN1) is most commonly caused by missense mutations in SPTLC1. In this study we mapped symptom progression and compared the utility of outcomes. Methods: We administered retrospective surveys of symptoms and analyzed results of nerve conduction, autonomic function testing (AFT), and PGP9.5-immunolabeled skin biopsies. Results: The first symptoms were universally sensory and occurred at a median age of 20 years (range 14-54 years). The onset of weakness, ulcers, pain, and balance problems followed sequentially. Skin biopsies revealed universally absent epidermal innervation at the distal leg with relative preservation in the thigh. Neurite density was highly correlated with total Charcot-Marie-Tooth Examination Score (CMTES; r(2)=-0.8) and median motor amplitude (r(2)=-0.75). Conclusions: These results confirm sensory loss as the initial symptom of HSAN1 and suggest that skin biopsy may be the most promising biomarker for future clinical trials. Muscle Nerve, 2015 Muscle Nerve 51: 489-495, 2015