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We here report the history of cerebrotendinous xanthomatosis (CTX) research, from the description of the first cases, until the recent developments. We describe the most relevant clinical, neurophysiologic and neuroimaging aspects, the neuropathologic, biochemical and molecular findings and finally the therapeutic approaches with also some new perspectives on the pathogenesis and therapy. The steps in the CTX research are here summarized as well as some biographic notes and pictures of the pioneers on diagnosis and care of this disease, which will give to readers (scientists, practitioners, patients and caregivers) an overview on the topic.

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Cerebrotendinous Xanthomatosis (CTX): General Review and History of the Research on Its Pathogenesis and Therapy

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  • 发表日期：

    2025年

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  • Antonio Federico

摘要

We here report the history of cerebrotendinous xanthomatosis (CTX) research, from the description of the first cases, until the recent developments. We describe the most relevant clinical, neurophysiologic and neuroimaging aspects, the neuropathologic, biochemical and molecular findings and finally the therapeutic approaches with also some new perspectives on the pathogenesis and therapy. The steps in the CTX research are here summarized as well as some biographic notes and pictures of the pioneers on diagnosis and care of this disease, which will give to readers (scientists, practitioners, patients and caregivers) an overview on the topic.