文摘
摘要目的:强调一种罕见的表型表达的染色体9 72年开放阅读框(C9orf72)hexanucleotide扩张和展示三年的临床神经心理学,核磁共振,正数据。
背景:的C9orf72扩张与额颞叶痴呆、帕金森症、肌萎缩性侧索硬化症,或一些组合这些表型。FTD变异的行为变异FTD表型是最常见的。语言变体是罕见的,几乎没有在这种情况下纵向数据。
设计/方法:病例报告。
结果:病人是一个大FTD / ALS的家族C9orf72纵向扩张,他一直跟着每年访问3年以上(4)评估ALLFTD (www.allftd.org)自然历史研究项目集中在额颞叶大叶性变性。67岁时他开始轻微的词发现困难,麻烦确定对象在一个购物清单,和温和的脸盲。这些症状有进展,除了轻度记忆障碍和温和的冷漠,没有其他重要的认知/行为/电机特性。神经心理测试显示进步的赤字在高频对象命名和语义词汇知识的损失。MRI显示了进步左前颞叶萎缩。摄影显示进步的主要代谢减退在左前颞叶,有轻微的前额,扣带,顶叶皮层。临床基因检测已确认hexanucleotide扩张的存在C9orf72。他现在有语义变异的诊断原发性进行性失语(svPPA)和继续跟着纵向。
结论:这份报告描述的临床、神经心理学和多通道神经影像学发现是svPPA的典型,在这种情况下是相关的C9orf72扩张。这种情况下显示的重要性,评估患者的一个已知的语言C9orf72扩张在确定是否存在认知综合症。
披露:瑞士人博士没有披露。博士字段的机构已经收到了来自美国国立卫生研究院的研究支持。领域得到了博士研究的机构以病人为中心的结果研究所的支持。Kantarci博士的机构收到礼来的研究支持。Kantarci博士的机构收到NIH的研究支持。Kantarci博士的机构已经接到ADDF研究支持。劳博士已经收到个人薪酬在10000 - 49999美元的范围为狂热的放射性药物作为顾问。劳博士已经收到个人薪酬在500 - 4999美元的范围为卫材公司担任顾问。劳博士的机构已经接到AVID Radiopharmaceuticals研究支持。Corriveau-Lecavalier博士没有披露。琼斯博士没有披露。 Dr. Botha has received research support from NIH. Dr. Knopman has received personal compensation in the range of $5,000-$9,999 for serving on a Scientific Advisory or Data Safety Monitoring board for DIAN TU study. The institution of Dr. Knopman has received research support from NIH. Dr. Ramanan has nothing to disclose. Dr. Gavrilova has nothing to disclose. The institution of Maria Lapid has received research support from NIA. Ms. Forsberg has nothing to disclose. Mr. Nelson has nothing to disclose. Mr. Kolander has nothing to disclose. Dr. Boeve has received personal compensation in the range of $10,000-$49,999 for serving as an officer or member of the Board of Directors for Rainwater Charitable Foundation. The institution of Dr. Boeve has received research support from Alector. The institution of Dr. Boeve has received research support from GE Healthcare. The institution of Dr. Boeve has received research support from Transposon. The institution of Dr. Boeve has received research support from Cognition Therapeutics. Dr. Boeve has received publishing royalties from a publication relating to health care.
