Elderly patients with suspected Charcot-Marie-Tooth disease should be tested for the TTRgene for effective treatments

Autor: Taniguchi, Takaki, Ando, Masahiro, Okamoto, Yuji, Yoshimura, Akiko, Higuchi, Yujiro, Hashiguchi, Akihiro, Matsuda, Nozomu, Yamamoto, Mamoru, Dohi, Eisuke, Takahashi, Makoto, Yoshino, Masanao, Nomura, Taichi, Matsushima, Masaaki, Yabe, Ichiro, Sanpei, Yui, Ishiura, Hiroyuki, Mitsui, Jun, Nakagawa, Masanori, Tsuji, Shoji, Takashima, Hiroshi
Zdroj: Journal of Human Genetics; 20220101, Issue: Preprints p1-10, 10p
Abstrakt: Background and aims: Some 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. Methods: We assessed clinical, cerebrospinal fluid, and electrophysiological findings by comparing ATTRv amyloidosis patients with suspected CMT (n= 10) and CMT patients (n= 489). Results: The 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−Whitney U, p< 0.01). Interpretation: For 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.
Databáze: Supplemental Index
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