ANXA1 mutation analysis in Italian patients with early onset PD.
Neurobiol Aging
; 125: 123-124, 2023 05.
Article
em En
| MEDLINE
| ID: mdl-36828691
ABSTRACT
Recently, a novel pathogenic variant in Annexin A1 protein (c.4G > A, p.Ala2Thr) has been identified in an Iranian consanguineous family with autosomal recessive parkinsonism. The deficiencies of ANXA1 could lead to extracellular SNCA accumulation, defects in intracellular signaling pathways and synaptic plasticity causing parkinsonism. The aim of this study was to identify rare ANXA1 variants in 95 early-onset PD patients from South Italy. Sequencing analysis of ANXA1 gene revealed only 2 synonymous variants in PD patients (rs1050305, rs149033255). Therefore, we conclude that the recently published ANXA1 mutation is not a common cause of EOPD in Southern Italy.
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Base de dados:
MEDLINE
Assunto principal:
Transtornos Parkinsonianos
Idioma:
En
Ano de publicação:
2023
Tipo de documento:
Article