New cases of adult-onset Sandhoff disease with a cerebellar or lower motor neuron phenotype
New cases of adult-onset Sandhoff disease with a cerebellar or lower motor neuron phenotype
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DOI：
10.1136/jnnp.2009.177089
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发表时间：
2010-09-01
影响因子：
11
通讯作者：
van de Warrenburg, B. P. C.
中科院分区：
文献类型：
--
作者：
Delnooz, C. C. S.;Lefeber, D. J.;van de Warrenburg, B. P. C.
桑德霍夫病是一种由神经节苷脂代谢缺陷引起的脂肪储存障碍。这是由于HEXB基因突变导致缺乏功能性N-乙酰-β-D-氨基葡萄糖苷酶A和B所致。典型的早发性桑德霍夫病在9个月前表现为进行性精神运动发育迟缓和早期死亡。晚发型的桑德霍夫病很少见，其症状多种多样。随着旨在干预疾病机制的药物试验的出现，识别和识别桑德霍夫病患者--特别是那些具有非典型表型的患者--变得更加重要。作者描述了6例新的迟发性Sandhoff病例，表现为小脑性共济失调或下运动神经元(LMN)受累合并神经病变，主要是亚临床神经病变。发现了两种不同的突变：IVS 12-26G/A和C.1514G->；A。在进行性小脑性共济失调或LMN患者中，即使发病年龄超过45岁，也应该怀疑桑德霍夫病。
Sandhoff disease is a lipid-storage disorder caused by a defect in ganglioside metabolism. It is caused by a lack of functional N-acetyl-beta-D-glucosaminidase A and B due to mutations in the HEXB gene. Typical, early-onset Sandhoff disease presents before 9 months of age with progressive psychomotor retardation and early death. A late-onset form of Sandhoff disease is rare, and its symptoms are heterogeneous. As drug trials that aim to intervene in the disease mechanism are emerging, the recognition and identification of Sandhoff disease patients-particularly those with atypical phenotypes-are becoming more important. The authors describe six new late-onset Sandhoff cases demonstrating cerebellar ataxia or lower motor neuron (LMN) involvement combined with, mostly subclinical, neuropathy. Two different mutations were found: IVS 12-26 G/A and c. 1514G -> A. In patients with either progressive cerebellar ataxia or LMN disease in the setting of a possibly recessive disorder, Sandhoff disease should be suspected, even when the onset age is over 45 years.