Mutation Screening of TFG in α-Synucleinopathy and Amyotrophic Lateral Sclerosis.
Mov Disord
; 37(8): 1756-1761, 2022 08.
Article
em En
| MEDLINE
| ID: mdl-35642252
ABSTRACT
BACKGROUND:
Recently, p.R383H in TFG was identified as the disease cause in a family with α-synucleinopathy and amyotrophic lateral sclerosis (ALS). However, no further replication has been conducted in larger cohorts.OBJECTIVE:
The aim was to explore the genetic role of TFG in α-synucleinopathy and ALS.METHODS:
We analyzed the rare protein-coding variants in patients with Parkinson's disease (PD), ALS, multiple system atrophy (MSA), spastic paraplegia (N = 2709), and 7536 controls with whole-exome sequencing.RESULTS:
Nine rare variants were identified in PD and two in MSA. One PD patient carried the same variant p.R383H. Similarly, this patient developed early-onset PD with bradykinesia and rigidity on the left side as the initial symptoms. However, at the gene level, rare variants of TFG were not enriched in patients.CONCLUSIONS:
Rare variants of TFG were not enriched in α-synucleinopathy and ALS. However, we could not deny the potential pathogenicity of specific variants such as p.R383H. Further exploration is still necessary. © 2022 International Parkinson and Movement Disorder Society.Palavras-chave
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Doença de Parkinson
/
Proteínas
/
Atrofia de Múltiplos Sistemas
/
Sinucleinopatias
/
Esclerose Lateral Amiotrófica
Tipo de estudo:
Diagnostic_studies
/
Screening_studies
Limite:
Humans
Idioma:
En
Ano de publicação:
2022
Tipo de documento:
Article