Facial onset amyotrophic lateral sclerosis with K3E variant in the Cu/Zn superoxide dismutase gene

Abstract

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.

Keywords:

• Facial onset
• amyotrophic lateral sclerosis
• K3E variant
• Cu/Zn superoxide dismutase gene

Acknowledgments

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.

Informed consent

Informed consent has been obtained from the family, because the present patient already died.

Declaration of interest

The authors report no conflict of interest.

Correction Statement

This article has been republished with minor changes. These changes do not impact the academic content of the article.