[Amyotrophic lateral sclerosis associated with a new pathogenic variant of the ERBB4 gene].

Autor:	Pervushina EV; Bashkir State Medical University, Ufa, Russia., Kutlubaev MA; Bashkir State Medical University, Ufa, Russia., Saifullina EV; Bashkir State Medical University, Ufa, Russia., Gaisina EV; Republican Medical and Genetic Center, Ufa, Russia., Smakova LA; Institute of Biochemistry and Genetics of Ufa Federal Scientific Center, Ufa, Russia., Khidiyatova IM; Institute of Biochemistry and Genetics of Ufa Federal Scientific Center, Ufa, Russia.; Ufa University of Science and Technology, Ufa, Russia.; Saint-Petersburg State University, St-Petersburg, Russia.
Jazyk:	ruština
Zdroj:	Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova [Zh Nevrol Psikhiatr Im S S Korsakova] 2024; Vol. 124 (7), pp. 165-168.
DOI:	10.17116/jnevro2024124071165
Abstrakt:	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.
Databáze:	MEDLINE
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