Repeated clear benefits of immunotherapy in a patient with Charcot-Marie-Tooth disease carrying a rare point mutation in PMP22

被引：0

作者：

Kawai, Honami ^{[1
]}

Nishida, Yoichiro ^{[1
]}

Kanda, Takashi ^{[2
]}

Yokota, Takanori ^{[1
]}

机构：

[1] Inst Sci Tokyo, Grad Sch Med & Dent Sci, Dept Neurol & Neurol Sci, 1-5-45 Yushima,Bunkyo Ku, Tokyo 1138519, Japan

[2] Yamaguchi Univ, Grad Sch Med, Dept Neurol & Clin Neurosci, Yamaguchi 7558505, Japan

来源：

NEUROGENETICS | 2025年 / 26卷 / 01期

关键词：

Charcot-Marie-Tooth disease (CMT); PMP22; Point mutation; Chronic inflammatory demyelinating polyneuropathy (CIDP); Optic neuritis;

D O I：

10.1007/s10048-025-00808-9

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

We describe a unique patient who had been diagnosed with inflammatory demyelinating polyneuropathy (CIDP) for 13 years with frequent clear responses to immunotherapies and was finally diagnosed with Charcot-Marie-Tooth disease (CMT) with a rare point mutation in PMP22 (c.320G > A, p.G107D). Some patients diagnosed with young-onset CIDP may have underlying CMT, and extensive genetic testing including point mutations of PMP22 gene is required not to miss the diagnosis.

引用

页数：4

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