Case Report

Abstract
Frontotemporal dementia with amyotrophic lateral sclerosis (FTD-ALS) is a neurodegenerative disorder characterized by cognitive impairment and motor neuron degeneration, both involving TDP-43 proteinopathy. We report a case of a 54-year-old male with dysarthria, upper limb weakness, and mild cognitive impairment, later confirmed as FTD-ALS with the TARDBP M337V mutation. Neurological examination revealed progressive motor deficits, while neuroimaging and electromyography supported the diagnosis. The mutation was associated with TDP-43 aggregation, leading to rapid symptom progression. This case emphasizes the importance of genetic testing for early diagnosis and tailored management in FTD-ALS. It also highlights the need for further research into the pathophysiology of TARDBP mutations for therapeutic development.