携带PMP22罕见点突变的腓骨肌萎缩症患者免疫治疗的反复明确益处

IF 1.6 4区医学 Q3 CLINICAL NEUROLOGY

Neurogenetics Pub Date : 2025-03-24 DOI:10.1007/s10048-025-00808-9

Honami Kawai, Yoichiro Nishida, Takashi Kanda, Takanori Yokota

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引用次数: 0

摘要

我们描述了一个独特的患者，他被诊断为炎症性脱髓鞘性多神经病变（CIDP） 13年，对免疫治疗经常有明确的反应，最终被诊断为沙科-玛丽-图斯病（CMT）， PMP22罕见的点突变（c.320G > a, p.G107D）。一些被诊断为年轻发病的CIDP患者可能有潜在的CMT，需要广泛的基因检测，包括PMP22基因的点突变，以免错过诊断。

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

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.

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来源期刊

Neurogenetics 医学-临床神经学

CiteScore

3.90

自引率

0.00%

发文量

审稿时长

6 months

期刊介绍： Neurogenetics publishes findings that contribute to a better understanding of the genetic basis of normal and abnormal function of the nervous system. Neurogenetic disorders are the main focus of the journal. Neurogenetics therefore includes findings in humans and other organisms that help understand neurological disease mechanisms and publishes papers from many different fields such as biophysics, cell biology, human genetics, neuroanatomy, neurochemistry, neurology, neuropathology, neurosurgery and psychiatry. All papers submitted to Neurogenetics should be of sufficient immediate importance to justify urgent publication. They should present new scientific results. Data merely confirming previously published findings are not acceptable.