Grim Kristina K, Phillips Gregory D, Renner David R
Department of Neurology University of Utah Salt Lake City Utah USA.
Mov Disord Clin Pract. 2015 Jun 30;2(3):289-290. doi: 10.1002/mdc3.12194. eCollection 2015 Sep.
Late-onset Tay-Sachs disease (LOTS) is a rare autosomal-recessive genetic disorder caused by insufficient activity of the lysosomal enzyme, beta-hexosaminidase A, resulting in intracellular accumulation of gangliosides in the central nervous system. Clinical manifestations can include unsteadiness in gait, muscle weakness, cognitive dysfunction, psychiatric disturbance, and dysarthric speech. The variable presentation of these symptoms, combined with the late onset of the disease, often results in misdiagnosis. We present video of 3 sibling cases of LOTS in which a dysarthric stutter was the sole presenting symptom in order to better characterize the phenotype of this disease.
迟发性泰-萨克斯病（LOTS）是一种罕见的常染色体隐性遗传病，由溶酶体酶β-己糖胺酶A活性不足引起，导致中枢神经系统中神经节苷脂在细胞内蓄积。临床表现可包括步态不稳、肌肉无力、认知功能障碍、精神障碍和构音障碍性言语。这些症状的多样表现，再加上该病起病较晚，常常导致误诊。我们展示了3例LOTS同胞病例的视频，其中构音障碍性口吃是唯一的首发症状，以便更好地描述这种疾病的表型。
