TY - JOUR
T1 - Facial onset amyotrophic lateral sclerosis with K3E variant in the Cu/Zn superoxide dismutase gene
AU - Shibuya, Kazumoto
AU - Sawai, Setsu
AU - Sugiyama, Atsuhiko
AU - Koide, Mizuho
AU - Nishiyama, Ayumi
AU - Aoki, Masashi
AU - Kuwabara, Satoshi
N1 - Funding Information:
Drs. Shibuya, Sawai, Sugiyama, Nishiyama, Aoki and Kuwabara receive research support from the Ministry of Education, Culture, Sports, Science, and Technology of Japan. Dr. Kuwabara receives research support from the Ministry of Education, Culture, Sports, Science, and Technology of Japan, and Grants-in-Aid from the Research Committee of CNS Degenerative Diseases, the Ministry of Health, Labor and Welfare of Japan.
Publisher Copyright:
© 2020 World Federation of Neurology on behalf of the Research Group on Motor Neuron Diseases.
PY - 2021
Y1 - 2021
N2 - We describe a 48-year-old man, suffering from difficulties in closing his eyes. He subsequently experienced progressive weakness in the facial and bulbar regions and upper limbs. His father and paternal grandmother had limb weakness as initial manifestations and were diagnosed with amyotrophic lateral sclerosis (ALS). In the present case, neuroimaging and laboratory studies were unremarkable, and neurophysiological studies disclosed diffuse denervation. Genetic testing identified a heterozygous c.10A>G, p.K4E (K3E) variant in superoxide dismutase 1 (SOD1) gene, and he was diagnosed with familial ALS. In ALS, facial muscles are rarely involved as an initial symptom. The present patient is a first case of facial onset ALS with K3E variant in SOD1 gene. Two case reports identified facial palsy as an initial manifestation in familial ALS with C6G variant in SOD1 gene. Several ALS patients with variants in SOD1 gene may have facial onset history.
AB - We describe a 48-year-old man, suffering from difficulties in closing his eyes. He subsequently experienced progressive weakness in the facial and bulbar regions and upper limbs. His father and paternal grandmother had limb weakness as initial manifestations and were diagnosed with amyotrophic lateral sclerosis (ALS). In the present case, neuroimaging and laboratory studies were unremarkable, and neurophysiological studies disclosed diffuse denervation. Genetic testing identified a heterozygous c.10A>G, p.K4E (K3E) variant in superoxide dismutase 1 (SOD1) gene, and he was diagnosed with familial ALS. In ALS, facial muscles are rarely involved as an initial symptom. The present patient is a first case of facial onset ALS with K3E variant in SOD1 gene. Two case reports identified facial palsy as an initial manifestation in familial ALS with C6G variant in SOD1 gene. Several ALS patients with variants in SOD1 gene may have facial onset history.
KW - Cu/Zn superoxide dismutase gene
KW - Facial onset
KW - K3E variant
KW - amyotrophic lateral sclerosis
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U2 - 10.1080/21678421.2020.1797092
DO - 10.1080/21678421.2020.1797092
M3 - Article
C2 - 32729725
AN - SCOPUS:85088870405
VL - 22
SP - 144
EP - 146
JO - Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration
JF - Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration
SN - 2167-8421
IS - 1-2
ER -