Grötzsch H, Pizzolato G-P, Ghika J, Schorderet D, Vingerhoets F J, Landis T, Burkhard P R
Department of Neurology, University Hospital, Geneva, Switzerland.
Neurology. 2002 Jun 25;58(12):1839-42. doi: 10.1212/wnl.58.12.1839.
Detailed autopsy findings are reported for a patient with dopa-responsive dystonia genetically related to the dopa-responsive dystonia locus DYT14 on chromosome 14q13. Substantia nigra and locus ceruleus showed a normal abundance of severely hypomelanized dopaminergic neurons and no Lewy body. In the nigra, the reduction of melanin pigment was found to be asymmetric between the two sides and uneven within neurons, and the lateral aspect of the nigra appeared more affected than the medial, in a pattern similar to the neuronal loss in PD. Dopa-responsive dystonia has a unique neuropathologic signature that seems to be independent of its genotype.
报告了一名与14号染色体q13上的多巴反应性肌张力障碍基因座DYT14相关的多巴反应性肌张力障碍患者的详细尸检结果。黑质和蓝斑显示严重色素减退的多巴胺能神经元数量正常，且无路易小体。在黑质中，发现两侧黑色素减少不对称，神经元内黑色素减少不均匀，黑质外侧比内侧受影响更明显，这种模式与帕金森病的神经元丢失相似。多巴反应性肌张力障碍具有独特的神经病理学特征，似乎与其基因型无关。
