Incomplete Penetrance of the C9ORF72 Hexanucleotide Repeat Expansions: Frequency in a Cohort of Geriatric Non-Demented Subjects
Incomplete Penetrance of the C9ORF72 Hexanucleotide Repeat Expansions: Frequency in a Cohort of Geriatric Non-Demented Subjects
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DOI：
10.3233/jad-131172
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发表时间：
2014-01-01
影响因子：
4
通讯作者：
Scarpini, Elio
中科院分区：
文献类型：
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作者：
Galimberti, Daniela;Arosio, Beatrice;Scarpini, Elio
我们对156名非痴呆老年受试者进行了C9ORF72六核苷酸重复扩增基因分型，这些受试者在老年医学单位招募，作为阿尔茨海默病（AD）患者关联研究的对照组，并发现了两名携带者（1.2%）。第一个是在81岁时因主观记忆问题而就诊。他一直被跟踪到84岁，没有患上痴呆症。第二组是一名80岁的志愿者（AD患者的配偶和照顾者），在招募时没有痴呆。此后，我们没有收到有关她病情的消息。这些结果表明突变的外显率绝对是不完整的。
We genotyped for the C9ORF72 hexanucleotide repeat expansion a population of 156 non-demented elderly subjects, recruited in a geriatric unit as control group for association studies in patients with Alzheimer's disease (AD), and found two carriers (1.2%). The first was referred for subjective memory complaints, at age 81. He was followed up until age 84 and did not develop dementia. The second was an 80-year old volunteer (spouse and caregiver of a patient with AD), non-demented at time of recruitment. We have not had information on her condition since that time. These results suggest that the penetrance of the mutation is definitely incomplete.