McNeill Alisdair, Pandolfo Massimo, Kuhn Jens, Shang Huifang, Miyajima Hiroaki
Department of Clinical Genetics, NIHR, Birmingham Women's Hospital, Birmingham, UK.
Eur Neurol. 2008;60(4):200-5. doi: 10.1159/000148691. Epub 2008 Jul 30.
Aceruloplasminemia is an autosomal recessive disorder of iron metabolism resulting from mutations of the ceruloplasmin gene. To better define the neurological phenotype of aceruloplasminemia we reviewed reports of published cases and sought details of unpublished ones. We identified 32 published reports and 1 unpublished case. The age at diagnosis ranged from 16 to 71 years with a mean of 51. For the 28 homozygous cases the most common presentation was with cognitive impairment (12/28, 42%) accompanied by craniofacial dyskinesia (8/28, 28%), cerebellar ataxia (13/28, 46%) and retinal degeneration (21/28, 75%). Four heterozygotes presented with cerebellar signs or tremor, whilst 1 had chorea-athetosis. There were no genotype-phenotype associations, but homozygotes tended to have severer disease.
血浆铜蓝蛋白缺乏症是一种常染色体隐性遗传性铁代谢紊乱疾病，由血浆铜蓝蛋白基因突变引起。为了更好地明确血浆铜蓝蛋白缺乏症的神经学表型，我们回顾了已发表病例的报告，并查找未发表病例的详细信息。我们确定了32篇已发表报告和1例未发表病例。诊断时的年龄范围为16至71岁，平均年龄为51岁。对于28例纯合子病例，最常见的表现是认知障碍（12/28，42%），伴有颅面运动障碍（8/28，28%）、小脑共济失调（13/28，46%）和视网膜变性（21/28，75%）。4例杂合子表现为小脑体征或震颤，而1例有舞蹈手足徐动症。不存在基因型与表型的关联，但纯合子往往病情更严重。
