0000000000621621

AUTHOR

Gennarina Arabia

showing 2 related works from this author

ANXA1 mutation analysis in Italian patients with early onset PD

2023

: 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.

AgingANXA1General NeuroscienceParkinson's diseaseNeurology (clinical)Geriatrics and GerontologyDevelopmental BiologyAnnexin A1
researchProduct

DJ-1 mutations and parkinsonism-dementia-amyotrophic lateral sclerosis complex.

2005

Mutations in DJ-1 gene have been recently shown to cause autosomal recessive early-onset Parkinson’s disease (EOPD) in a large Dutch family and in a small consanguineous Italian family.1 Subsequent to this initial finding, several additional DJ-1 mutations were identified in subjects with EOPD.2–6 We describe a family from southern Italy with three brothers affected by a complex disorder characterized by early-onset parkinsonism-dementia-amyotrophic lateral sclerosis (EOPD-D-ALS). The analysis of the DJ-1 gene showed a novel homozygous mutation (E163K) in exon 7 and a novel homozygous mutation (g.168_185dup) in the promoter region of this gene in living affected subjects

MalePathologymedicine.medical_specialtyDNA Mutational AnalysisProtein Deglycase DJ-1Glutamic AcidGene mutationParkinsonismmedicine.disease_causeDISEASEPARK7GUAMExonMucoproteinsDegenerative diseaseParkinsonian DisordersmedicineHumansDementiaRNA MessengerAmyotrophic lateral sclerosisGeneFamily HealthOncogene ProteinsGeneticsMutationReverse Transcriptase Polymerase Chain Reactionbusiness.industryParkinsonismAmyotrophic Lateral SclerosisIntracellular Signaling Peptides and ProteinsExonsDEGENERATIONBlotting Northernmedicine.diseaseGENEINCLUSIONSNeurologyMutationAmyotrophic LateralFemaleDementiaNeurology (clinical)TAUbusiness
researchProduct