University Department of Clinical Neurology, Institute of Neurology, London WC1N 3BG, UKThe National Hospital for Neurology and Neurosurgery, Queen Square, London WC1N 3BG, UK.
Eur J Neurol. 1995 Mar;2(1):23-6. doi: 10.1111/j.1468-1331.1995.tb00088.x.
We describe two patients who developed, in the first and second decades of life, mental retardation, some limitation of up gaze, poorly levodopa-responsive parkinsonism and pyramidal signs. Recessive inheritance is suggested by the fact that they were subsequently found to be first cousins from consanguineous unions. A number of different possible diagnoses were considered, but despite extensive investigation these patients, who are both still living, thus far appear to be unique. In particular, unlike most cases of alleged "pallido-pyramidal disease" in the literature, we do not feel it justifiable to use this denomination in the absence of either pathological or in vivo imaging evidence of pallidal involvement.
我们描述了两名患者，他们在生命的头二十年和第二个十年中分别出现了智力障碍、上视受限、对左旋多巴反应不佳的帕金森病和锥体束征。他们是近亲结婚的表亲，这表明隐性遗传的可能性。考虑了许多不同的可能诊断，但尽管进行了广泛的调查，这些患者至今仍然独一无二。特别是，与文献中大多数所谓的“苍白球-锥体束疾病”病例不同，在缺乏苍白球受累的病理或体内成像证据的情况下，我们认为使用这个名称是不合理的。
