Coutinho P, Guimarães A, Pires M M, Scaravilli F
Acta Neuropathol. 1986;71(1-2):119-24. doi: 10.1007/BF00687972.
Peripheral nerve biopsies were taken from 11 patients with Machado-Joseph disease (MJD), a heredo-degenerative disease within the group of autosomal dominant ataxias. On the basis of the clinical symptoms, 2 patients were found to suffer from type I, 4 from type II and 5 from type III. All cases shared the same pathological features, which consisted of a reduction in density of myelinated and unmyelinated fibres and an increase in endoneurial collagen. It was also observed that some Schwann cells were not related to axons, whilst others showed numerous budding processes. The intensity of the changes varied considerably: it was mild in type I and II and severe in type III. Peripheral nerve changes in MJD are compared with those previously described in other forms of heredo-ataxias. It is concluded that involvement of peripheral nerves is a significant feature in this group of diseases and that peripheral nerve biopsy could be useful in the identification of the subtypes of MJD.
对11例Machado-Joseph病（MJD）患者进行了周围神经活检，MJD是常染色体显性遗传性共济失调组中的一种遗传性退行性疾病。根据临床症状，发现2例患有I型，4例患有II型，5例患有III型。所有病例都具有相同的病理特征，包括有髓和无髓纤维密度降低以及神经内膜胶原增加。还观察到一些施万细胞与轴突无关，而另一些则显示出许多出芽过程。变化的强度差异很大：I型和II型较轻，III型较重。将MJD的周围神经变化与先前在其他形式的遗传性共济失调中描述的变化进行了比较。得出的结论是，周围神经受累是这组疾病的一个重要特征，周围神经活检可能有助于识别MJD的亚型。
