TY - JOUR

T1 - Клинический случай бокового амиотрофического склероза с новой мутацией в гене ERBB4.

AU - Первушина, Екатерина Владимировна

AU - Кутлубаев, Мансур Амирович

AU - Сайфуллина, Елена Владимировна

AU - Гайсина, Елена Валерьевна

AU - Смакова, Лилия Ануровна

AU - Хидиятова, Ирина Михайловна

PY - 2024/7

Y1 - 2024/7

N2 - 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.

AB - 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.

KW - ERBB4

KW - amyotrophic lateral sclerosis

KW - monogenic disorders

KW - motor neuron disease

UR - https://www.mendeley.com/catalogue/0ff83eb0-9a52-31e7-8e48-8ef6770e68eb/

U2 - 10.17116/jnevro2024124071165

DO - 10.17116/jnevro2024124071165

M3 - статья

VL - 124

SP - 165

EP - 168

JO - ЖУРНАЛ НЕВРОЛОГИИ И ПСИХИАТРИИ ИМ. C.C. КОРСАКОВА

JF - ЖУРНАЛ НЕВРОЛОГИИ И ПСИХИАТРИИ ИМ. C.C. КОРСАКОВА

SN - 1997-7298

IS - 7

ER -