Small-fiber involvement in spinobulbar muscular atrophy (Kennedy's disease)
Small-fiber involvement in spinobulbar muscular atrophy (Kennedy's disease)
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DOI：
10.1002/mus.20872
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发表时间：
2007-12-01
期刊：
影响因子：
3.4
通讯作者：
Santoro, Lucio
中科院分区：
文献类型：
--
作者：
Manganelli, Fiore;Iodice, Valeria;Santoro, Lucio
我们评估了参与皮肤神经支配的两名受试者的分子确诊为脊髓延髓肌萎缩症（SBMA）使用逆行神经传导研究，定量感觉测试，汗液测试，以及免疫组化技术和共聚焦显微镜的无毛和有毛皮肤活检。两名患者均表现出明显的感觉动作电位振幅降低，触觉阈值和机械疼痛感知中度或重度异常。还观察到在Silastic印记测试中的汗滴严重减少以及在有毛皮肤中的小的有髓和无髓纤维的广泛损失。纤维丢失涉及躯体或自主神经纤维，未显示任何远端-近端梯度。这些结果，再加上损失的迈斯纳小体和他们的大的有髓传入纤维在无毛的皮肤，证实了广泛参与的感觉神经元的大小，并揭示了自主神经皮肤去神经SBMA。
We assessed the involvement of cutaneous innervation in two subjects with a molecularly confirmed diagnosis of spinobulbar muscular atrophy (SBMA) using antidromic nerve conduction studies, quantitative sensory testing, and sweat tests, as well as immunohistochemical techniques and confocal microscopy of glabrous and hairy skin biopsy. Both patients showed a marked reduction in amplitude of sensory action potentials and moderate or severe abnormalities of tactile thresholds and mechanical pain perception. A severe reduction of sweat drops on the Silastic imprint test and a widespread loss of small myelinated and unmyelinated fibers in hairy skin were also observed. Fiber loss involved either somatic or autonomic fibers and did not show any distal-proximal gradient. These results, together with loss of Meissner corpuscles and their large myelinated afferent fibers in glabrous skin, confirmed the extensive involvement of sensory neurons of large and small size and revealed an autonomic skin denervation in SBMA.