ATYPICAL PRESENTATION OF LATE-ONSET TAY-SACHS DISEASE
ATYPICAL PRESENTATION OF LATE-ONSET TAY-SACHS DISEASE
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DOI：
10.1002/mus.24146
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发表时间：
2014-05-01
期刊：
影响因子：
3.4
通讯作者：
Saunders-Pullman, Rachel
中科院分区：
文献类型：
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作者：
Deik, Andres;Saunders-Pullman, Rachel
介绍：晚发型泰-萨二氏病（LOTS）是一种由β-氨基己糖苷酶A活性缺陷引起的溶酶体贮积病。研究方法：我们描述了一个53岁的妇女谁提出了成人发病的腿部无力，其初步诊断是进行性肌萎缩症，没有明确的病因。中年小脑共济失调的发展促使人们重新评估。结果：β-氨基己糖苷酶A定量分析表明不存在同工酶。基因检测确定了HEXA基因的复合杂合突变，证实了LOTS的诊断。结论：LOTS的表型谱包括运动神经元病、共济失调、舞蹈手足徐动症、神经病和精神症状的各种组合。该患者强调了多年来不同临床特征的出现，并强调在进行性肌萎缩的鉴别诊断中需要考虑LOTS。肌肉神经49：768-771，2014
Introduction: Late-onset Tay-Sachs disease (LOTS) is a lysosomal storage disease caused by deficient Beta-hexosaminidase A activity. Methods: We describe a 53-year-old woman who presented with adult-onset leg weakness, and whose initial diagnosis was progressive muscular atrophy without identifiable etiology. Development of cerebellar ataxia in mid-life prompted reassessment. Results: Beta-hexosaminidase A quantification assay demonstrated absence of the isozyme. Genetic testing identified compound heterozygous mutations in the HEXA gene, confirming the diagnosis of LOTS. Conclusions: The phenotypic spectrum of LOTS includes motor neuronopathy, ataxia, choreoathetosis, neuropathy, and psychiatric symptoms in various combinations. This patient highlights the emergence of different clinical features over many years and emphasizes the need to consider LOTS in the differential diagnosis of progressive muscular atrophy. Muscle Nerve49: 768-771, 2014