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rdf:type |
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lifeskim:mentions |
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pubmed:dateCreated |
2003-1-27
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pubmed:abstractText |
The Parkin gene is responsible for about 50% of autosomal recessive juvenile parkinsonism (ARJP) and less than 20% of sporadic early onset cases. We recently mapped a novel ARJP locus (PARK6) on chromosome 1p. Linkage to PARK6 was confirmed in 8 families from 4 different European countries. These families share some clinical features with the European Parkin-positive cases, with a wide range of ages at onset and slow progression. However, features typical of ARJP, such as dystonia and sleep benefit, were not observed, making the clinical presentation of late-onset cases indistinguishable from that of idiopathic PD. The determination of the smallest region of homozygosity in one consanguineous family allowed reducing the candidate interval to 9 cM. PARK6 appears to be an important locus for ARJP in Europe.
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
Sep
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pubmed:issn |
1590-1874
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pubmed:author |
pubmed-author:AlbaneseAA,
pubmed-author:BentivoglioA RAR,
pubmed-author:BonifatiVV,
pubmed-author:BrancatiFF,
pubmed-author:BretelerM M BMM,
pubmed-author:BriceAA,
pubmed-author:CaputoVV,
pubmed-author:CortelliPP,
pubmed-author:DürrAA,
pubmed-author:DallapiccolaBB,
pubmed-author:DavisM BMB,
pubmed-author:De MicheleGG,
pubmed-author:European Consortium on Genetic Susceptibility in Parkinson's Disease,
pubmed-author:FerrarisAA,
pubmed-author:FillaAA,
pubmed-author:GasserTT,
pubmed-author:GrahamE AEA,
pubmed-author:MeczLL,
pubmed-author:OostraB ABA,
pubmed-author:ValenteE MEM,
pubmed-author:WinnR HRH
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pubmed:issnType |
Print
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pubmed:volume |
23 Suppl 2
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
S117-8
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pubmed:dateRevised |
2010-11-18
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pubmed:meshHeading |
pubmed-meshheading:12548371-Chromosomes, Human, Pair 1,
pubmed-meshheading:12548371-Europe,
pubmed-meshheading:12548371-Genetic Linkage,
pubmed-meshheading:12548371-Genotype,
pubmed-meshheading:12548371-Humans,
pubmed-meshheading:12548371-Ligases,
pubmed-meshheading:12548371-Parkinsonian Disorders,
pubmed-meshheading:12548371-Pedigree,
pubmed-meshheading:12548371-Ubiquitin-Protein Ligases
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pubmed:year |
2002
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pubmed:articleTitle |
PARK6 is a common cause of familial parkinsonism.
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pubmed:affiliation |
C.S.S. Mendel Institute, Viale Regina Margherita 261, I-00198 Rome, Italy.
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pubmed:publicationType |
Journal Article
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