Dhakal Bishal, Sapkota Sachin, Parajuli Aakriti, Khadka Bibek, Subedi Binaya, Paudel Raju, Thapa Rohit, Rimal Sabin
Nepalese Army Institute of Health and Sciences, College of Medicine, Kathmandu, Nepal.
Maulakalika Hospital Pvt. Ltd, Bharatpur-10, Chitwan, Nepal.
Ann Med Surg (Lond). 2022 Nov 7;84:104840. doi: 10.1016/j.amsu.2022.104840. eCollection 2022 Dec.
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.
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.
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.
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.
肌萎缩侧索硬化症是一种神经退行性疾病，与之相关的遗传学存在广泛差异。在已描述的不同基因中，TFG基因突变在肌萎缩侧索硬化症中是一个罕见的发现。
一名35岁右利手男性因同侧肌无力就诊，被诊断为肌萎缩侧索硬化症。在外显子测序中发现他有意义不确定的TFG错义变异。
肌萎缩侧索硬化症涉及的遗传学在不断发展。在该疾病中发现新的TFG变异为TFG在神经退行性疾病中的作用增添了另一证据。
意义不确定的TFG变异在肌萎缩侧索硬化症中是一个罕见的发现。随着新TFG变异的发现，有助于进一步了解TFG在肌萎缩侧索硬化症中的范围及其病理生理学。
