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

Autor: Taniguchi T; Department of Neurology and Geriatrics, Kagoshima University Graduate School of Medical and Dental Sciences, Kagoshima, Japan.; Department of Neurology, Imakiire General Hospital, Kagoshima, Japan., Ando M; Department of Neurology and Geriatrics, Kagoshima University Graduate School of Medical and Dental Sciences, Kagoshima, Japan., Okamoto Y; Department of Neurology and Geriatrics, Kagoshima University Graduate School of Medical and Dental Sciences, Kagoshima, Japan.; Department of Physical Therapy, School of Health Sciences, Faculty of Medicine, Kagoshima University, Kagoshima, Japan., Yoshimura A; Department of Neurology and Geriatrics, Kagoshima University Graduate School of Medical and Dental Sciences, Kagoshima, Japan., Higuchi Y; Department of Neurology and Geriatrics, Kagoshima University Graduate School of Medical and Dental Sciences, Kagoshima, Japan., Hashiguchi A; Department of Neurology and Geriatrics, Kagoshima University Graduate School of Medical and Dental Sciences, Kagoshima, Japan., Matsuda N; Department of Neurology, Fukushima Medical University, Fukushima, Japan., Yamamoto M; Department of Neurology, University of Toyama, Toyama, Japan., Dohi E; Department of Neurology, Hiroshima Prefectural Hospital, Hiroshima, Japan.; Department of Neuroscience of Disease, Brain Research Institute, Niigata University, Niigata, Japan., Takahashi M; Department of Neurology, Kanto Central Hospital, Tokyo, Japan., Yoshino M; Department of Neurology, Obihiro Kosei Hospital, Hokkaido, Japan.; Department of Neurology, Faculty of Medicine and Graduate School of Medicine, Hokkaido University, Sapporo, Japan., Nomura T; Department of Neurology, Faculty of Medicine and Graduate School of Medicine, Hokkaido University, Sapporo, Japan., Matsushima M; Department of Neurology, Faculty of Medicine and Graduate School of Medicine, Hokkaido University, Sapporo, Japan., Yabe I; Department of Neurology, Faculty of Medicine and Graduate School of Medicine, Hokkaido University, Sapporo, Japan., Sanpei Y; Department of Neurology, Akita University Graduate School of Medicine, Akita, Japan., Ishiura H; Department of Neurology, Faculty of Medicine, The University of Tokyo, Tokyo, Japan., Mitsui J; Department of Molecular Neurology, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan., Nakagawa M; North Medical Center, Kyoto prefectural University of Medicine, Kyoto, Japan., Tsuji S; Department of Molecular Neurology, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan.; Institute of Medical Genomics, International University of Health and Welfare, Chiba, Japan., Takashima H; Department of Neurology and Geriatrics, Kagoshima University Graduate School of Medical and Dental Sciences, Kagoshima, Japan. takashima8@gmail.com.
Jazyk: angličtina
Zdroj: Journal of human genetics [J Hum Genet] 2022 Jun; Vol. 67 (6), pp. 353-362. Date of Electronic Publication: 2022 Jan 14.
DOI: 10.1038/s10038-021-01005-w
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). 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.
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.
(© 2021. The Author(s), under exclusive licence to The Japan Society of Human Genetics.)
Databáze: MEDLINE
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