健忘症状で気づかれた17番染色体に連鎖したタウ遺伝子変異による家族性前頭側頭型認知症パーキンソニズムの1家系

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  • FTDP-17 presenting amnestic MCI as an initial symptom: case report
  • ショウレイ ホウコク ケンボウ ショウジョウ デ キズカレタ 17バン センショクタイ ニ レンサ シタ タウ イデンシ ヘンイ ニ ヨル カゾクセイ マエガシラ ソクトウガタ ニンチショウ パーキンソニズム ノ 1 カケイ

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A 46-year-old woman was admitted to our hospital for examination of her amnesia. Psychiatric examinations revealed that her recent memory was moderately disturbed despite well-preserved general cognitive function. Brain MRI and I-IMP SPECT (eZIS) revealed mild brain atrophy and hypoperfusion localized to the hippocampus, superior parietal lobule, and posterior cingulate gyrus. She was diagnosed with amnestic MCI at that time. However, five years later, she developed personality changes, parkinsonism and dementia. Investigation of her family medical history revealed that the patient's two sisters are demented and under the medical care. DNA analysis revealed an intronic mutation IVS10 C>T in the MAPT gene. Although her two sisters also have the same mutation, her elder sister has typical FTD without parkinsonism. Approximately 10% of patients with amnestic MCI develop Alzheimer's disease each year. Thus, amnestic MCI has been usually considered to be an early stage of Alzheimer's disease. Interestingly our patient having a MAPT gene mutation started to develop amnestic MCI as an initial symptom. Therefore because of the diversity in early clinical features of FTDP-17, aggressive DNA analysis is necessary for accurate diagnosis.<br>

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