: 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.

Gagliardi, M., Procopio, R., Talarico, M., Quattrone, A., Arabia, G., Morelli, M., et al. (2023). ANXA1 mutation analysis in Italian patients with early onset PD. NEUROBIOLOGY OF AGING, 125, 123-124 [10.1016/j.neurobiolaging.2023.01.014].

ANXA1 mutation analysis in Italian patients with early onset PD

D'Amelio, Marco
Resources
;
2023-05-01

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.
mag-2023
Gagliardi, M., Procopio, R., Talarico, M., Quattrone, A., Arabia, G., Morelli, M., et al. (2023). ANXA1 mutation analysis in Italian patients with early onset PD. NEUROBIOLOGY OF AGING, 125, 123-124 [10.1016/j.neurobiolaging.2023.01.014].
File in questo prodotto:
File Dimensione Formato  
2023_ANXA1.pdf

Solo gestori archvio

Tipologia: Post-print
Dimensione 232.19 kB
Formato Adobe PDF
232.19 kB Adobe PDF   Visualizza/Apri   Richiedi una copia
1-s2.0-S0197458023000258-main.pdf

Solo gestori archvio

Tipologia: Versione Editoriale
Dimensione 258.52 kB
Formato Adobe PDF
258.52 kB Adobe PDF   Visualizza/Apri   Richiedi una copia

I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.

Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/10447/584175
Citazioni
  • ???jsp.display-item.citation.pmc??? 0
  • Scopus 0
  • ???jsp.display-item.citation.isi??? ND
social impact