Paediatric NeurologyArchives
The N‐Terminal Fragment of Urine Titin Is Not a Product of Degradation by Calpain 3
Paediatric Neurology 2 min.
Titin, also known as connectin, is a large protein in the sarcomere of skeletal muscles. It plays a crucial role in supporting the structure and function of both actin and myosin [1]. Protein analysis using biopsies muscle tissue from patients with Duchenne muscular dystrophy (DMD) reflects muscle atrophy,...
Astrocyte proliferation in the hippocampal dentate gyrus is suppressed across the lifespan of dystrophin‐deficient mdx mice
Paediatric Neurology 7 min.
Individuals with Duchenne Muscular Dystrophy (DMD), an X‐linked disorder detected in 1 in every 3500 male births, exhibit progressive muscular atrophy, loss of mobility (McDonald et al., 2018) and limited life expectancy (Yiu & Kornberg, 2008). This disease is caused by mutations in the...
Incidence and health burden of 20 rare neurological diseases in South China from 2016 to 2022: a hospital-based observational study
Paediatric Neurology 4 min.
Rare diseases (RDs), also known as orphan diseases, are any diseases or conditions with a low prevalence, and they are often debilitating or even life threatening. There are an estimated 5,000–8,000 RDs, many of which have neurological manifestations [1, 2]. There are at least 90 million people...
The relationship between adult phenylketonuria and the cardiovascular system - insights into mechanisms and risks
Paediatric Neurology 7 min.
Phenylketonuria (PKU, OMIM 261600) is an inborn metabolic disease with an incidence of 1:24 000 living births in Europe [1]. PKU is mostly due to pathogenic variants of the phenylalanine hydroxylase (PAH) gene but hyperphenylalaninemia (HPA) may also be caused by mutations in tetrahydrobiopterin (BH4)...
