A Novel TFG Mutation in a Korean Family with α‐Synucleinopathy and Amyotrophic Lateral Sclerosis
Abstract
Tropomyosin-receptor kinase fused gene (TFG) functions as a regulator of intracellular protein packaging and trafficking at the endoplasmic reticulum exit sites. TFG has recently been proposed as a cause of multisystem proteinopathy.Here, we describe a Korean family presenting with Parkinson's disease or amyotrophic lateral sclerosis caused by a novel variant of TFG (c.1148 G > A, p.Arg383His).We collected clinical, genetic, dopamine transporter...
Paper Details
Title
A Novel TFG Mutation in a Korean Family with α‐Synucleinopathy and Amyotrophic Lateral Sclerosis
Published Date
Nov 15, 2021
Journal
Volume
37
Issue
2
Pages
384 - 391
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