Institute of Clinical Neuroanatomy, Dr Senckenberg Anatomy, Goethe University, Frankfurt am Main, Germany.
Ann Neurol. 2010 May;67(5):684-9. doi: 10.1002/ana.21966.
Familial Parkinson disease (PD) due to the A30P mutation in the SNCA gene encoding alpha-synuclein is clinically associated with PD symptoms. In this first pathoanatomical study of the brain of an A30P mutation carrier, we observed neuronal loss in the substantia nigra, locus coeruleus, and dorsal motor vagal nucleus, as well as widespread occurrence of alpha-synuclein immunopositive Lewy bodies, Lewy neurites, and glial aggregates. Alpha-synuclein aggregates ultrastructurally resembled Lewy bodies, and biochemical analyses disclosed a significant load of insoluble alpha-synuclein, indicating neuropathological similarities between A30P disease patients and idiopathic PD, with a more severe neuropathology in A30P carriers.
家族性帕金森病（PD）是由于编码α-突触核蛋白的 SNCA 基因的 A30P 突变引起的，其临床与 PD 症状相关。在 A30P 突变携带者的大脑的首例病理解剖研究中，我们观察到黑质、蓝斑核和迷走神经背核神经元丧失，以及广泛存在的α-突触核蛋白免疫阳性路易小体、路易神经突和神经胶质聚集。α-突触核蛋白聚集体在超微结构上类似于路易小体，生化分析显示不溶性α-突触核蛋白的显著负荷，表明 A30P 疾病患者与特发性 PD 之间存在神经病理学相似性，A30P 携带者的神经病理学更为严重。
