TY - JOUR
T1 - Hoarseness due to bilateral vocal cord paralysis as an initial manifestation of familial amyotrophic lateral sclerosis
AU - Fukae, Jiro
AU - Kubo, Shin Ichiro
AU - Hattori, Nobutaka
AU - Komatsu, Kaoru
AU - Kato, Masaaki
AU - Aoki, Masashi
AU - Mizuno, Yoshikuni
PY - 2005/6
Y1 - 2005/6
N2 - Bulbar palsy is unusual as an initial manifestation of amyotrophic lateral sclerosis (ALS), although common in the advanced stages. In terms of bulbar palsy as a presenting symptom, dysarthria and dysphagia are of common features. Hoarseness, however, is an initial symptom of ALS in only a small number of patients. We report a 43-year-old female with hoarseness due to bilateral vocal cord paralysis as the first manifestation of ALS. Gene analysis revealed a heterozygous missense mutation in the SOD1 gene, which resulted in an amino acid substitution of isoleucine 149 by threonine. Hoarseness can be the initial symptom of ALS. Therefore, in cases of bilateral vocal cord paralysis of unknown etiology, ALS should be taken into consideration.
AB - Bulbar palsy is unusual as an initial manifestation of amyotrophic lateral sclerosis (ALS), although common in the advanced stages. In terms of bulbar palsy as a presenting symptom, dysarthria and dysphagia are of common features. Hoarseness, however, is an initial symptom of ALS in only a small number of patients. We report a 43-year-old female with hoarseness due to bilateral vocal cord paralysis as the first manifestation of ALS. Gene analysis revealed a heterozygous missense mutation in the SOD1 gene, which resulted in an amino acid substitution of isoleucine 149 by threonine. Hoarseness can be the initial symptom of ALS. Therefore, in cases of bilateral vocal cord paralysis of unknown etiology, ALS should be taken into consideration.
KW - Bilateral vocal cord paralysis
KW - Familial amyotrophic lateral sclerosis (FALS)
KW - Hoarseness
KW - SOD1
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U2 - 10.1080/14660820510034451
DO - 10.1080/14660820510034451
M3 - Article
C2 - 16036438
AN - SCOPUS:21344457470
VL - 6
SP - 122
EP - 124
JO - Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration
JF - Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration
SN - 2167-8421
IS - 2
ER -