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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
11
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pubmed:dateCreated |
2005-6-15
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pubmed:abstractText |
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.
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
AIM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
Jun
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pubmed:issn |
1526-632X
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pubmed:author |
pubmed-author:AtsumiMM,
pubmed-author:HatanoYY,
pubmed-author:HattoriNN,
pubmed-author:KawaguchiSS,
pubmed-author:KitaguchiMM,
pubmed-author:LUMM,
pubmed-author:MiyajimaHH,
pubmed-author:MizunoYY,
pubmed-author:SasakiSS,
pubmed-author:SatoKK,
pubmed-author:TodaTT,
pubmed-author:TomiyamaHH,
pubmed-author:YoshinoHH
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pubmed:issnType |
Electronic
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pubmed:day |
14
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pubmed:volume |
64
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
1955-7
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pubmed:dateRevised |
2009-11-19
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pubmed:meshHeading |
pubmed-meshheading:15955953-Adolescent,
pubmed-meshheading:15955953-Adult,
pubmed-meshheading:15955953-Age of Onset,
pubmed-meshheading:15955953-Aged,
pubmed-meshheading:15955953-Aged, 80 and over,
pubmed-meshheading:15955953-Child,
pubmed-meshheading:15955953-DNA Mutational Analysis,
pubmed-meshheading:15955953-Ethnic Groups,
pubmed-meshheading:15955953-Female,
pubmed-meshheading:15955953-Genetic Predisposition to Disease,
pubmed-meshheading:15955953-Genetic Testing,
pubmed-meshheading:15955953-Geography,
pubmed-meshheading:15955953-Homozygote,
pubmed-meshheading:15955953-Humans,
pubmed-meshheading:15955953-Intracellular Signaling Peptides and Proteins,
pubmed-meshheading:15955953-Male,
pubmed-meshheading:15955953-Middle Aged,
pubmed-meshheading:15955953-Mutation,
pubmed-meshheading:15955953-Mutation, Missense,
pubmed-meshheading:15955953-Oncogene Proteins,
pubmed-meshheading:15955953-Parkinsonian Disorders,
pubmed-meshheading:15955953-Pedigree,
pubmed-meshheading:15955953-Protein Kinases,
pubmed-meshheading:15955953-Ubiquitin-Protein Ligases
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pubmed:year |
2005
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pubmed:articleTitle |
Clinicogenetic study of PINK1 mutations in autosomal recessive early-onset parkinsonism.
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pubmed:affiliation |
Department of Neurology, Juntendo University School of Medicine, 2-1-1 Hongo, Bunkyo, Tokyo 113-0033, Japan.
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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