Romanul F C, Fowler H L, Radvany J, Feldman R G, Feingold M
N Engl J Med. 1977 Jun 30;296(26):1505-8. doi: 10.1056/NEJM197706302962606.
We studied a family of Portuguese ancestry from the Azores who suffered a progressive neurologic disease characterized by gait ataxia, features similar to Parkinson's disease in some patients, limitation of eye movements, widespread fasciculations of muscles, loss of reflexes in the lower limbs, followed by nystagmus, mild cerebellar tremor and extensor plantar responses. Two post-mortem examinations revealed loss of neurons and gliosis in the substantia nigra, nuclei pontis (and in the putamen in one case) as well as in the nuclei of the vestibular and other cranial nerves, columns of Clarke and anterior horns, in the spinal cord there were also loss of fibers in the fasciculi gracilis and mild changes in the pyramidal tracts. Comparison of the disease in this family with the findings reported in three families of similar ancestry, previously thought to have different disorders, suggests that they may all represent a single genetic entity with variable expression.
我们研究了一个来自亚速尔群岛的葡萄牙裔家族，该家族患有一种进行性神经疾病，其特征为步态共济失调，部分患者有类似帕金森病的症状，眼球运动受限，肌肉广泛肌束震颤，下肢反射消失，随后出现眼球震颤、轻度小脑震颤和巴宾斯基征。两次尸检显示黑质、脑桥核（其中一例壳核也受累）以及前庭核和其他颅神经核、克拉克柱和前角的神经元丢失和胶质细胞增生，脊髓中薄束纤维也有丢失，锥体束有轻度改变。将该家族的疾病与先前认为患有不同疾病的三个类似血统家族的研究结果进行比较，表明它们可能都代表一种具有可变表达的单一遗传实体。
