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臨床症状

Mauricio Silva Teixeira1,2, Anna Maria Gomes2, Hindalis Ballesteros Epifanio2

  • 1Hospital das Clinicas HCFMUSP, Faculdade de Medicina, Universidade de Sao Paulo, Sao Paulo, Sao Paulo, Brazil.

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まとめ
この要約は機械生成です。

致死性家族性不眠症（FFI）は、DLB（レビー小体型認知症）を模倣する可能性のあるまれなプリオン病です。遺伝子検査により、PRNP遺伝子のD178N変異が明らかになり、進行性認知症と睡眠異常を呈する患者のFFIが確認されました。

キーワード:
致死性家族性不眠症レビー小体型認知症プリオン病遺伝子検査D178N変異PRNP遺伝子進行性認知症睡眠異常

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科学分野:

  • 神経学; 遺伝学; プリオン病

背景:

  • 致死性家族性不眠症（FFI）は、まれな常染色体優性遺伝のプリオン病です。 本症例では、当初レビー小体型認知症（DLB）を模倣したFFIを呈しました。

研究 の 目的:

  • 非典型的な症状を呈するFFIの症例を報告する。 アラームサインを伴うDLBが疑われる症例において、徹底的な検査の重要性を強調する。

主な方法:

  • 進行性認知症と不眠症を呈した48歳男性の症例検討。 脳MRI、FDG-PET、TRODAT SPECT、ポリグラフ検査、PRNP遺伝子配列解析を実施しました。 PRNP遺伝子における病原性c.532G>A:p (Asp178Asn) バリアントを同定しました。

主要な成果:

  • 患者は急速に進行する認知症、認知機能の変動、幻覚、パーキンソニズム、重度の自律神経機能不全を呈しました。 遺伝子解析により、FFIに関連するPRNP遺伝子のD178N変異が確認されました。 視床の低代謝は認められませんでしたが、TRODAT SPECTで線条体の関与が認められ、パーキンソニズムとの関連が示唆されました。

結論:

  • FFIは、DLBに類似した症状を含む、多様な臨床像を呈することがあります。 急速に進行する認知症、睡眠障害、家族歴は、DLBの初期疑いを超えたさらなる調査を必要とします。