A novel TFG variant of uncertain significance in amyotrophic lateral sclerosis: A case report and review of literature.
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
Journal
Annals of medicine and surgery (2012)
ISSN: 2049-0801
Titre abrégé: Ann Med Surg (Lond)
Pays: England
ID NLM: 101616869
Informations de publication
Date de publication:
Dec 2022
Dec 2022
Historique:
received:
28
07
2022
revised:
23
09
2022
accepted:
30
10
2022
entrez:
30
12
2022
pubmed:
31
12
2022
medline:
31
12
2022
Statut:
epublish
Résumé
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.
Identifiants
pubmed: 36582889
doi: 10.1016/j.amsu.2022.104840
pii: S2049-0801(22)01600-4
pmc: PMC9793128
doi:
Types de publication
Case Reports
Langues
eng
Pagination
104840Informations de copyright
© 2022 The Authors.
Déclaration de conflit d'intérêts
The authors report no conflicts of interest.
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