Koht Jeanette, Løstegaard Sven Olav, Wedding Iselin, Vidailhet Marie, Louha Malek, Tallaksen Chantal Me
Department of Neurology, Drammen Hospital, Vestre Viken Health Trust, Drammen, Norway.
Institute of Clinical Medicine, University of Oslo, Oslo, Norway.
Cerebellum Ataxias. 2016 Feb 2;3:3. doi: 10.1186/s40673-016-0041-7. eCollection 2016.
Benign hereditary chorea is a rare disorder which is characterized by early onset, non-progressive choreic movement disturbance, with other hyperkinetic movements and unsteadiness also commonly seen. Hypothyroidism and lung disease are frequent additional features. The disorder is caused by mutations of the NKX2-1 gene on chromosome 14.
A Norwegian four-generation family with eight affected was identified. All family members had an early onset movement disorder, starting before one year of age with motor delay and chorea. Learning difficulties were commonly reported from early school years. The family presented with choreic movements at rest, but other movements were seen; myoclonus, dystonia, ataxia, stuttering and tics-like movements. All patients reported unsteadiness and ataxic gait was observed in two patients. Videos are provided in the supplementary material. Most affected family members had asthma and a subclinical or clinical hypothyroidism. Sequencing revealed a mutation in the NKX2-1 gene in all eight affected family members.
This is the first Norwegian family with benign hereditary chorea due to a mutation in the NKX2-1 gene, c.671 T > G (p.Leu224Arg). This family demonstrates well the wide phenotype, including dystonia, myoclonus and ataxia.
良性遗传性舞蹈病是一种罕见疾病，其特征为发病早、舞蹈样运动障碍不进展，常伴有其他运动亢进性运动和步态不稳。甲状腺功能减退和肺部疾病也较为常见。该疾病由14号染色体上的NKX2 - 1基因突变引起。
确定了一个有八名患者的挪威四代家族。所有家族成员均有早发性运动障碍，在一岁前发病，伴有运动发育迟缓及舞蹈症。从早年起就普遍存在学习困难。该家族成员在静息时出现舞蹈样运动，但也有其他运动表现，如肌阵挛、肌张力障碍、共济失调、口吃及抽动样运动。所有患者均有步态不稳，两名患者观察到共济失调步态。补充材料中提供了视频。大多数受累家族成员患有哮喘以及亚临床或临床甲状腺功能减退。测序显示所有八名受累家族成员的NKX2 - 1基因均存在突变。
这是首个因NKX2 - 1基因（c.671 T＞G，p.Leu224Arg）突变导致良性遗传性舞蹈病的挪威家族。该家族充分展示了广泛的表型，包括肌张力障碍、肌阵挛和共济失调。
