A Familial Phenotypic and Genetic Study of Mutations in PFN1 Associated with Amyotrophic Lateral Sclerosis
Amyotrophic lateral sclerosis (ALS) is a progressive and fatal neurodegenerative disease that prominently affects both upper and lower motor neurons. The prevalence of ALS has been estimated at 2.6–3.0 per 100,000 in Europe, 5.2 per 100,000 in the USA, and 1.9–9.9 per 100,000 in Asia [1, 2, 3]. ALS is classified as sporadic (sALS) or familial (fALS), but only 5%–10% of cases are identified as familial [4, 5]. In 1993, the first mutation associated with ALS was found in the superoxide dismutase 1 (SOD1) gene . Since then, > 30 genes with such mutations have been reported, of which four genes SOD1, FUS (FUS RNA binding protein), TARDBP (TAR DNA binding protein), and C9orf72 (C9orf72-SMCR8 complex subunit), account for 60%–70% of fALS cases and 10% of sALS cases . The discovery of mutations in these genes has established a pivotal rationale for understanding the pathogenic processes and mechanisms in ALS. In particular, mitochondrial dysfunction, disruption of RNA...
We sincerely thank the patients and their families for their cooperation. This work was supported by the Key Program of the Natural Science Foundation of Guangdong Province, China (2017B030311015), Guangzhou Municipal People’s Livelihood Science and Technology Project (201803010085), and the National Key R&D Program of China (2017YFC1310200).
Conflict of interest
The authors declare that they have no conflict of interest.