Bouillot S, Martin-Négrier M L, Vital A, Ferrer X, Lagueny A, Vincent D, Coquet M, Orgogozo J M, Bloch B, Vita C
Neuropathology, Victor Segalen University, Bordeaux, France.
J Peripher Nerv Syst. 2002 Dec;7(4):213-20. doi: 10.1046/j.1529-8027.2002.02027.x.
Forty-three cases of peripheral neuropathy (PN) have been reported in the literature with a proven mitochondria (mt) DNA mutation, and 21 had a peripheral nerve biopsy (PNB). We studied 8 patients, 1 of whom had severe sensory PN, 3 mild PN, and 4 subclinical PN. Nerve biopsy was performed in every case; all patients showed axonal degeneration and 4 showed features of primary myelin damage. In addition, there were 2 crystalline-like inclusions in the Schwann cell cytoplasm of a patient with MERRF, and 1 in a patient with multiple deletions on the mtDNA. There are 11 cases of PNB in the literature with axonal lesions, 5 with demyelination, and 4 with mixed lesions. One PNB was not modified. A few crystalline-like inclusions were seen in 1 case of MERRF. Such inclusions were first reported in the Schwann cell cytoplasm of unmyelinated fibers in a patient with Refsum disease and were considered to be modified mitochondria. However, their mitochondrial origin remains debatable.
文献中已报道43例经证实存在线粒体（mt）DNA突变的周围神经病（PN）患者，其中21例进行了周围神经活检（PNB）。我们研究了8例患者，其中1例有严重感觉性PN，3例有轻度PN，4例有亚临床PN。每例均进行了神经活检；所有患者均显示轴突变性，4例显示原发性髓鞘损伤特征。此外，1例肌阵挛性癫痫伴破碎红纤维（MERRF）患者的施万细胞胞质中有2个晶体样包涵体，1例线粒体DNA多处缺失患者中有1个。文献中有11例PNB显示轴索病变，5例显示脱髓鞘，4例显示混合性病变。1例PNB未发现改变。1例MERRF患者中可见少数晶体样包涵体。此类包涵体首次在1例Refsum病患者无髓纤维的施万细胞胞质中被报道，并被认为是改变的线粒体。然而，它们的线粒体起源仍存在争议。
