A patient carrying a heterozygous p.Asn267Ser TARDBP missense mutation diagnosed as ALS and only involving lower motor neurons.

Abstract excerpt

Amyotrophic lateral sclerosis (ALS) is a rare neurodegenerative disease involving upper motor neurons (UMN) and lower motor neurons (LMN), which can be caused by mutations of pathogenic genes such as superoxide dismutase 1 (SOD1), sarcoma fusion (FUS), and TAR-DNA binding protein (TARBDP/TDP-43). Among these pathogenic genes, TARBDP mutation accounts for approximately 1% of sporadic ALS (sALS). The clinical...

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