Introduction: Amyotrophic lateral sclerosis is a neurodegenerative disease with wide variation of genetics associated with it. Among the different genes described, mutation in TFG is a rare finding in amyotrophic lateral sclerosis.
Case presentation: A 35 years old right-handed male presenting with ipsilateral weakness was diagnosed with amyotrophic lateral sclerosis. He was found to have missense variant of TFG with uncertain significance on exome sequencing.
Clinical discussion: The genetics involved in amyotrophic lateral sclerosis is ever-evolving. The identification of new TFG variant in this disease adds another evidence to the role of TFG in neurodegenerative disease.
Conclusions: The finding of TFG variant of uncertain significance is a rare finding in amyotrophic lateral sclerosis. And with the identification of new TFG variant, it leads to further understanding of spectrum of TFG and its pathophysiology in amyotrophic lateral sclerosis.
Keywords: ALS, Amyotrophic lateral sclerosis; Amyotrophic lateral sclerosis; Endoplasmic reticulum; Exome sequencing; MRI, Magnetic resonance imaging; Neurodegeneration; TFG, Tropomyosin-receptor kinase fused gene; Tropomyosin-receptor kinase fused gene.
© 2022 The Authors.