Abstract
The authors performed PINK1 mutation analysis of 51 families with autosomal recessive Parkinson disease (ARPD). They found two novel PINK1 mutations: one was a homozygous deletion (13516-18118del) and the other a homozygous missense mutation (C388R). Clinically, the patients with the deletion had dementia. Thus, early-onset PD with dementia may be considered PINK1-linked parkinsonism. Furthermore, patients with PINK1 mutations form 8.9% of parkin- and DJ-1-negative ARPD families.
Publication types
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Research Support, Non-U.S. Gov't
MeSH terms
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Adolescent
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Adult
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Age of Onset
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Aged
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Aged, 80 and over
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Child
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DNA Mutational Analysis
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Ethnicity / genetics
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Female
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Genetic Predisposition to Disease / genetics*
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Genetic Testing
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Geography
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Homozygote
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Humans
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Intracellular Signaling Peptides and Proteins
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Male
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Middle Aged
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Mutation / genetics*
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Mutation, Missense / genetics
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Oncogene Proteins / genetics
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Parkinsonian Disorders / ethnology
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Parkinsonian Disorders / genetics*
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Parkinsonian Disorders / metabolism
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Pedigree
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Protein Deglycase DJ-1
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Protein Kinases / genetics*
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Ubiquitin-Protein Ligases / genetics
Substances
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Intracellular Signaling Peptides and Proteins
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Oncogene Proteins
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Ubiquitin-Protein Ligases
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parkin protein
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Protein Kinases
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PTEN-induced putative kinase
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PARK7 protein, human
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Protein Deglycase DJ-1