Agosti C, Borroni B, Archetti S, Akkawi N M, Padovani A
Department of Neurology, University of Brescia, Italy.
Neurosci Lett. 2008 Oct 10;443(3):228-31. doi: 10.1016/j.neulet.2008.07.082. Epub 2008 Aug 3.
Transient Global Amnesia (TGA) is a well defined pure amnesic clinical syndrome characterized by acute loss of memory in middle aged people. The aetiology of TGA is still unknown but clinical and neuroimaging studies support a hippocampi involvement, and some reports suggested a possible common genetic background in cases of familial TGA. A single nucleotide polymorphism (SNP) in the Brain-derived neurotrophic factor (BDNF) gene that causes a valine to methionine substitution at codon 66 (Val66Met) has been demonstrated to affect human memory and hippocampal function in the development and maintenance of adult neurons. Aim of this study was to evaluate the role of BDNF Val66Met polymorphism on TGA risk and all TGA clinical features. Ninety-eight TGA patients and 93 age-matched controls were enrolled in the study. Each patient underwent clinical and neurological examination, routine blood examination, EEG, Jugular vein valve (JVI) competence assessment, and neuroimaging study. TGA characteristics were carefully recorded. The distribution of BDNF genotype did not differ in TGA patients compared to controls (BDNF GG: 58.2% vs 55.9%, GA: 33.7% vs 36.6%, AA: 8.1% vs 7.5%, P=.91) as well as allele frequency (BDNF G, TGA vs CON: 75.0% vs 74.2, P=.47). No significant differences in age at onset, disease duration and recurrence or the presence of predisposing factors between TGA patients carrying BDNF AA, BDNF GA and BDNF GG genotype were found. This study, that firstly looked at genetic background in TGA, did not show a significant correlation between the BDNF Val66Met polymorphism and age of onset, risk factors, duration or recurrence of TGA.
短暂性全面性遗忘症（TGA）是一种明确的纯遗忘性临床综合征，其特征为中年人群急性记忆丧失。TGA的病因尚不清楚，但临床和神经影像学研究支持海马体受累，一些报告表明家族性TGA病例可能存在共同的遗传背景。脑源性神经营养因子（BDNF）基因中的一个单核苷酸多态性（SNP），导致密码子66处缬氨酸替换为甲硫氨酸（Val66Met），已被证明在成年神经元的发育和维持中影响人类记忆和海马体功能。本研究的目的是评估BDNF Val66Met多态性对TGA风险及所有TGA临床特征的作用。98例TGA患者和93例年龄匹配的对照者纳入本研究。每位患者均接受临床和神经系统检查、常规血液检查、脑电图、颈静脉瓣（JVI）功能评估及神经影像学检查。仔细记录TGA的特征。与对照组相比，TGA患者的BDNF基因型分布无差异（BDNF GG：58.2%对55.9%，GA：33.7%对36.6%，AA：8.1%对7.5%，P = 0.91），等位基因频率也无差异（BDNF G，TGA对CON：75.0%对74.2，P = 0.47）。携带BDNF AA、BDNF GA和BDNF GG基因型的TGA患者在发病年龄、病程、复发情况或诱发因素方面未发现显著差异。本研究首次探讨了TGA的遗传背景，未显示BDNF Val66Met多态性与TGA的发病年龄、危险因素、病程或复发之间存在显著相关性。
