Sudarsky L, Coutinho P
Neurology Service (127), VA Medical Center, West Roxbury, MA 02132, USA.
Clin Neurosci. 1995;3(1):17-22.
Machado-Joseph disease (MJD) is a form of dominantly-inherited ataxia originally described in people of Azorean and Portuguese descent. The disorder has subsequently been identified in Japan, Brazil, Australia, and China. Average age of onset is 35 to 40. Core features include progressive ataxia, dysarthria, postural instability, nystagmus, eyelid retraction, and facial fasciculations. Dystonia is often prominent in younger patients. Three distinct phenotypes appear to reflect the clinical spectrum of a single mutant gene. Neuropathology involves afferent and efferent cerebellar systems, with preservation of cerebellar cortex and inferior olive. Spinocerebellar pathways, substantia nigra, and cranial nerve motor nuclei are involved. The disorder is due to an unstable CAG repeat on chromosome 14q32.1. A dominantly inherited ataxia (SCA-3) in families of French and German descent has also been linked to this segment of chromosome 14. The relationship between MJD and the other dominant inherited ataxias is discussed.
马查多-约瑟夫病（MJD）是一种常染色体显性遗传性共济失调，最初在亚速尔群岛和葡萄牙裔人群中被发现。随后，在日本、巴西、澳大利亚和中国也发现了这种疾病。平均发病年龄为35至40岁。核心症状包括进行性共济失调、构音障碍、姿势不稳、眼球震颤、眼睑退缩和面部肌束震颤。肌张力障碍在年轻患者中通常较为突出。三种不同的表型似乎反映了单一突变基因的临床谱。神经病理学涉及传入和传出小脑系统，小脑皮质和下橄榄核保留。脊髓小脑通路、黑质和脑神经运动核也受累。该疾病是由于14号染色体q32.1区域的CAG重复序列不稳定所致。在法裔和德裔家族中发现的一种常染色体显性遗传性共济失调（SCA - 3）也与14号染色体的这一区段有关。本文讨论了MJD与其他显性遗传性共济失调之间的关系。
