6533b873fe1ef96bd12d59bd
RESEARCH PRODUCT
DJ-1 mutations and parkinsonism-dementia-amyotrophic lateral sclerosis complex.
Marco D'amelioPierfrancesco PugliesePatrizia TarantinoTommaso PiccoliPaolo RagoneseBrigida FierroAldo QuattroneInnocenza Claudia Cirò CandianoVincenzo La BellaDonatella CivitelliFerdinanda AnnesiGrazia AnnesiFederico PiccoliGiovanni SavettieriManuela CaraccioloGennarina Arabiasubject
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)TAUbusinessdescription
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
| year | journal | country | edition | language |
|---|---|---|---|---|
| 2005-10-22 |