SPG3A-linked hereditary spastic paraplegia associated with cerebral glucose hypometabolism.
SPG3A-linked hereditary spastic paraplegia associated with cerebral glucose hypometabolism.
复制标题
SPG3A 相关的遗传性痉挛性截瘫与脑葡萄糖代谢低下有关。
DOI：
10.1007/s12149-012-0673-5
复制
发表时间：
2013
期刊：
影响因子：
2.6
通讯作者：
Miyajima H
中科院分区：
文献类型：
--
作者：
Terada T;Kono S;Ouchi Y;Yoshida K;Hamaya Y;Kanaoka S;Miyajima H
SPG 3A连锁遗传性痉挛性截瘫（HSP）是一种罕见的常染色体显性遗传性运动障碍，由SPG 3A基因突变引起，以进行性下肢运动无力和痉挛为特征，无其他神经系统异常，由R239 C突变引起的SPG 3A连锁HSP表现为局限于皮质脊髓束损害的纯表型。然而，关于这种运动缺陷的病因是外周还是中枢仍有争议。我们在此报告2例SPG 3A基因R239 C突变杂合子患者。两个中年日本姐妹篇从小就患有单纯的HSP表型。在[18 F]-氟脱氧葡萄糖（FDG）正电子发射摄影（PET）研究中，两例患者的额叶皮质内侧和背外侧葡萄糖代谢显著降低，额叶评估组合评分较低。在正常人中的实时PCR分析显示，额叶皮质是SPG 3AmRNA表达的主要位置。额叶葡萄糖代谢低下与额叶认知功能障碍相关，这一发现表明与SPG 3A基因突变相关的广泛神经病理学可能比以前假设的更集中。
SPG3A-linked hereditary spastic paraplegia (HSP) is a rare autosomal dominant motor disorder caused by a mutation in theSPG3Agene, and is characterized by progressive motor weakness and spasticity in the lower limbs, without any other neurological abnormalities.SPG3A-linked HSP caused by a R239C mutation has been reported to present a pure phenotype confined to impairment of the corticospinal tract. However, there is still a debate about the etiology of this motor deficit with regard to whether it is peripheral or central. We herein report two patients who were heterozygous for a R239C mutation in theSPG3Agene. Two middle-aged Japanese sisters had been suffering from a pure phenotype of HSP since their childhood. Both patients had a significant decrease in glucose metabolism in the frontal cortex medially and dorsolaterally in a [18F]-fluorodeoxyglucose (FDG) positron emission photography (PET) study and low scores on the Frontal Assessment Battery. A real-time PCR analysis in normal subjects showed the frontal cortex to be the major location whereSPG3AmRNA is expressed. The present finding that the frontal glucose hypometabolism was associated with frontal cognitive impairment indicates that widespread neuropathology associated with mutations in theSPG3Agene may be present more centrally than previously assumed.