Girotra Tarun, Mahajan Abhimanyu, Sidiropoulos Christos
Department of Neurology, Henry Ford Hospital, Detroit, MI, USA.
Department of Neurology and Ophthalmology, Michigan State University, East Lansing, MI, USA.
Case Rep Neurol Med. 2017;2017:5146723. doi: 10.1155/2017/5146723. Epub 2017 Mar 23.
Hemochromatosis is an autosomal recessive disorder which leads to abnormal iron deposition in the parenchyma of multiple organs causing tissue damage. Accumulation of iron in the brain has been postulated to be associated with several neurodegenerative diseases including Parkinson's disease. The excess iron promotes Parkin and -synuclein aggregation in the neurons. Excess iron has also been noted in substantia nigra on MRI especially using susceptibility weighted imaging in patients with Parkinson's disease. We present a case of a young male with alleles for both C282Y and H63D who presented with signs of Parkinsonism and demonstrated significant improvement with levodopa treatment.
血色素沉着症是一种常染色体隐性疾病,会导致铁在多个器官的实质中异常沉积,从而造成组织损伤。据推测,大脑中铁的蓄积与包括帕金森病在内的多种神经退行性疾病有关。过量的铁会促使帕金森蛋白和α-突触核蛋白在神经元中聚集。在帕金森病患者中,通过磁共振成像(MRI),尤其是利用磁敏感加权成像技术,也发现黑质中有过量的铁。我们报告一例年轻男性病例,其携带C282Y和H63D两个等位基因,出现帕金森综合征体征,左旋多巴治疗后症状显著改善。