Elderly patients with suspected Charcot-Marie-Tooth disease should be tested for the TTR gene for effective treatments
Elderly patients with suspected Charcot-Marie-Tooth disease should be tested for the TTR gene for effective treatments
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DOI：
10.1038/s10038-021-01005-w
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发表时间：
2022-01-14
影响因子：
3.5
通讯作者：
Takashima，Hiroshi
中科院分区：
文献类型：
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作者：
Taniguchi，Takaki;Ando，Masahiro;Takashima，Hiroshi
背景与目的遗传性甲状腺素运载蛋白（ATTRv）淀粉样变性患者在发病时常被误诊为夏科-玛丽-图思病（CMT）。我们评估了在疑似CMT患者中鉴定ATTRv淀粉样变性的发现，以筛选甲状腺素运载蛋白基因变体用于治疗。通过比较ATTRv淀粉样变性患者与疑似CMT患者（n= 10）和CMT患者（n= 489）的电生理结果。（四分位距）神经系统症状发作时的年龄为69（64.2-70）岁的ATTRv淀粉样变性患者vs 12 CMT组（5-37.2）岁ATTRv淀粉样变性组中有初始感觉症状的患者比例为70%，CMT组为7.1（Fisher精确，p< 0.01）。有疑似慢性炎性脱髓鞘性多发性神经病（CIDP）病史的患者比例在ATTRv淀粉样变性组中为50%，而在CMT组中为8.7%（Fisher精确，p <0.01）。其他指标和结果在两组之间没有差异。六名ATTRv淀粉样变性患者中有五名接受了治疗并存活了下来。InterpretationFor effective treatments，甲状腺素运载蛋白基因应在疑似CMT患者中进行筛查，这些患者在神经系统症状发作时年龄较大，最初的感觉症状和疑似CIDP的病史。
Background and aimsSome hereditary transthyretin (ATTRv) amyloidosis patients are misdiagnosed as Charcot−Marie−Tooth disease (CMT) at onset. We assess the findings to identify ATTRv amyloidosis among patients with suspected CMT to screen transthyretin gene variants for treatments.MethodsWe assessed clinical, cerebrospinal fluid, and electrophysiological findings by comparing ATTRv amyloidosis patients with suspected CMT (n= 10) and CMT patients (n= 489).ResultsThe median (interquartile range) age at onset of neurological symptoms was 69 (64.2–70) years in the ATTRv amyloidosis vs 12 (5–37.2) years in CMT group (Mann−WhitneyU,p< 0.01).The proportion of patients with initial sensory symptoms was 70% in the ATTRv amyloidosis group vs 7.1% in CMT group (Fisher’s exact,p< 0.01). The proportion of patients with histories of suspected chronic inflammatory demyelinating polyneuropathy (CIDP) were 50% in the ATTRv amyloidosis group vs 8.7% in CMT group (Fisher’s exact, p < .01). Other measures and outcomes were not different between the two groups. Five of the six patients with ATTRv amyloidosis received treatment and survived.InterpretationFor effective treatments, the transthyretin gene should be screened in patients with suspected CMT with old age at onset of neurological symptoms, initial sensory symptoms, and histories of suspected CIDP.