Department of Neurological Sciences, Federico II University, Naples, Italy.
Mov Disord. 2010 Jul 30;25(10):1491-6. doi: 10.1002/mds.23065.
Benign hereditary chorea is an autosomal dominant disorder characterized by early onset nonprogressive chorea, caused by mutations of the thyroid transcription factor-1 (TITF-1) gene. Clinical heterogeneity has been reported and thyroid and respiratory abnormalities may be present. We describe 3 patients of an Italian family carrying the S145X mutation in the TITF-1 gene with mild motor delay, childhood onset dyskinesias, and subtle cognitive impairment. A child in the third generation presented with congenital hypothyroidism and neonatal respiratory distress. Imaging studies in 2 patients showed mild ventricular enlargement and empty sella at magnetic resonance imaging and hypometabolism of basal ganglia and cortex at 18-Fluoro-2-deoxy-glucose positron emission tomography.
良性遗传性舞蹈病是一种常染色体显性遗传病，其特征为发病早、进行性非进展性舞蹈病，由甲状腺转录因子-1（TITF-1）基因突变引起。已有报道称其临床表现存在异质性，且可能存在甲状腺和呼吸异常。我们描述了一个意大利家系的 3 位患者，他们携带 TITF-1 基因的 S145X 突变，表现为轻度运动发育迟缓、儿童期起病的运动障碍和轻微认知障碍。第三代的一个孩子表现为先天性甲状腺功能减退和新生儿呼吸窘迫。2 位患者的影像学研究显示磁共振成像（MRI）显示轻度脑室扩大和空蝶鞍，18-F 氟-2-脱氧葡萄糖正电子发射断层扫描（18-FDG-PET）显示基底节和皮质代谢低下。
