Department of Neurodegenerative Diseases, Dementia Research Centre, Institute of Neurology, University College London, UK.
Alzheimer Dis Assoc Disord. 2009 Oct-Dec;23(4):410-4. doi: 10.1097/wad.0b013e31819cb7f3.
We report an isolated, slowly progressive, pure amnestic phenotype in a 59-year-old member of a family affected by autosomal dominant familial Alzheimer disease. Early-onset Alzheimer disease in this family was associated with a V717G mutation in the amyloid precursor protein gene (APP). Subjective impairment of episodic memory began in our subject at the age of 44 years and subsequent, longitudinal neuropsychologic assessment confirmed progressive, severe, global impairment of memory functions over a period of 14 years with preservation of other cognitive domains. The mean annual hippocampal atrophy rate, determined by volumetric magnetic resonance imaging was intermediate between values previously associated with cognitively normal individuals and those with sporadic Alzheimer disease.
我们报道了一个家族性阿尔茨海默病的 59 岁成员，其表现为孤立的、进展缓慢的纯遗忘表型。该家族的早发性阿尔茨海默病与淀粉样前体蛋白基因（APP）中的 V717G 突变有关。我们的研究对象在 44 岁时开始出现情景记忆的主观损害，随后的纵向神经心理学评估证实，在 14 年的时间里，记忆功能逐渐严重受损，而其他认知领域得以保留。通过容积磁共振成像确定的平均每年海马体萎缩率介于与认知正常个体和散发性阿尔茨海默病相关的数值之间。
