Early-onset Alzheimers and cortical vision impairment in a woman with valosin-containing protein disease associated with 2 APOE ε4/APOE ε4 genotype.
Early-onset Alzheimers and cortical vision impairment in a woman with valosin-containing protein disease associated with 2 APOE ε4/APOE ε4 genotype.
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患有与 2 APOE ε4/APOE ε4 基因型相关的含缬洛辛蛋白疾病的女性的早发性阿尔茨海默病和皮质视力障碍。
DOI：
10.1097/wad.0b013e318298e54f
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发表时间：
2015
影响因子：
2.1
通讯作者：
Kimonis,VirginiaE
中科院分区：
文献类型：
--
作者：
Shamirian,Sharis;Nalbandian,Angèle;Khare,Manaswitha;Castellani,Rudolph;Kim,Ronald;Kimonis,VirginiaE
遗传性包涵体肌病是一种异质性疾病，其特征是边缘空泡和丝状细胞质和核内包涵体的存在。包涵体肌病伴佩吉特骨病和额颞叶痴呆是一种进行性常染色体显性遗传病，与含缬氨酸蛋白（VCP）突变相关，典型的发病症状为30多岁。APOE[拉丁小写字母开E] 4是迟发性阿尔茨海默病的主要危险因素。阿尔茨海默病是一种进行性神经退行性疾病，由于β-淀粉样蛋白的过度积累和清除减少，导致神经斑块和神经原纤维纠缠的出现，影响记忆、思维、行为和情绪。总之，我们报告了一个独特的APOE[拉丁小字母开放E] 4/APOE[拉丁小字母开放E] 4基因型和非典型VCP疾病与早期阿尔茨海默病和严重视力障碍相关的患者。未来的研究将阐明VCP突变与APOE等位基因的相互作用，以了解AD和VCP疾病的共同机制。
Hereditary inclusion body myopathy is a heterogeneous group of disorders characterized by rimmed vacuoles and by the presence of filamentous cytoplasmic and intranuclear inclusions. Inclusion body myopathy with Paget disease of bone and frontotemporal dementia is a progressive autosomal dominant disorder associated with a mutation in valosin-containing protein (VCP) with typical onset of symptoms in the 30s. APOE [Latin Small Letter Open E] 4 is a major risk factor for late-onset Alzheimer disease, a progressive neurodegenerative disorder that affects memory, thinking, behavior, and emotion as a result of the excessive buildup and decreased clearance of β-amyloid proteins resulting in the appearance of neuritic plaques and neurofibrillary tangles. In conclusion, we report a unique patient with an APOE [Latin Small Letter Open E] 4/APOE [Latin Small Letter Open E] 4 genotype and atypical VCP disease associated with early Alzheimer disease and severe vision impairment. Future studies will elucidate the interaction of VCP mutations and APOE [Latin Small Letter Open E] 4 alleles in understanding common mechanisms in AD and VCP disease.