[Amyotrophic lateral sclerosis associated with a new pathogenic variant of the ERBB4 gene].
Ekaterina V PervushinaMansur Amirovich KutlubaevElena V SaifullinaE V GaisinaL A SmakovaI M KhidiyatovaPublished in: Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova (2024)
Amyotrophic lateral sclerosis (ALS) is a sporadic disease in most of the cases; in 10-15% of cases genetic forms are recorded. A genetic form of ALS associated with the mutation in the ERBB4 gene (ALS19) has been reported in 2013. A protein encoded by the ERBB4 is probably involved in ubiquitous component of the pathogenesis of ALS. We present a case of ALS associated with a new pathogenic variant of the ERBB4 gene, with early bulbar onset and slow progression of the disease within 10 years.