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Updated: May 2, 2026

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オランダの家族性運動ニューロン疾患患者のVAPB (P56S) 変異:症例報告

Sean W Willemse1, Koen C Demaegd1, Ruben P A Van Eijk1,2

  • 1Department of Neurology, Brain Centre Rudolf Magnus, University Medical Centre Utrecht, Utrecht, The Netherlands.

Amyotrophic lateral sclerosis & frontotemporal degeneration
|September 4, 2025
PubMed
まとめ

VAPB P56S変異は運動ニューロン疾患を引き起こし,脊髄筋縮またはALSとして現れます. この報告書は 希少な遺伝子変異を患った 最初のオランダ人患者を詳細に説明し 拡大する地理的および臨床的スペクトルを強調しています

キーワード:
オランダVAPB について運動神経疾患

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