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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
1
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pubmed:dateCreated |
1998-8-13
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pubmed:abstractText |
Parkinson disease (PD) is a common neurodegenerative condition associated with degeneration of dopaminergic neurons in the zona compacta of the substantia nigra. There is increasing evidence that genetic factors play a role in the etiology of PD, although genetic heterogeneity is likely. An autosomal dominant syndrome with many similarities to sporadic PD has been mapped to 4q21-22 in a large Italian pedigree and has been found to be due to mutation of the alpha-synuclein gene. However, this gene appears to account for only a minority of PD, and a susceptibility locus for autosomal dominant parkinsonism has recently been mapped, on 2p13. Autosomal recessive juvenile parkinsonism (JP), which shows marked clinical similarity to PD, maps to 6q25.2-q27. We found linkage to this region in a group of 15 families from four distinct ethnic backgrounds. A full genomic screen excluded other candidate regions. We have constructed a detailed genetic map of the linked region and have mapped the position of the manganese superoxide dismutase gene (SOD2). Recombination events restricted the JP locus to a 6.9-cM region and excluded SOD2. The apparent homozygosity for null alleles at D6S955 in one family suggested a deletion and finer localization of the JP locus.
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pubmed:grant |
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pubmed:commentsCorrections |
http://linkedlifedata.com/resource/pubmed/commentcorrection/9634534-1427917,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9634534-1674118,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9634534-1922124,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9634534-2054983,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9634534-2184120,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9634534-2218528,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9634534-4735177,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9634534-7719342,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9634534-7915897,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9634534-8054979,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9634534-8145912,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9634534-8145922,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9634534-8298648,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9634534-8317490,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9634534-8365054,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9634534-8401493,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9634534-8651310,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9634534-8651312,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9634534-8710070,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9634534-8710071,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9634534-8771062,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9634534-8895469,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9634534-9010393,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9634534-9042918,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9634534-9197268,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9634534-9463802,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9634534-9500549,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9634534-9560156,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9634534-9595984
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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 |
Jul
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pubmed:issn |
0002-9297
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pubmed:author |
pubmed-author:AlmasyLL,
pubmed-author:BohlegaSS,
pubmed-author:ElibolBB,
pubmed-author:HubbleJJ,
pubmed-author:JonesA CAC,
pubmed-author:KuzuharaSS,
pubmed-author:NygaardT GTG,
pubmed-author:UchidaMM,
pubmed-author:WeeksD EDE,
pubmed-author:YamamuraYY,
pubmed-author:YanagiTT
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pubmed:issnType |
Print
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pubmed:volume |
63
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
80-7
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pubmed:dateRevised |
2010-11-18
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pubmed:meshHeading |
pubmed-meshheading:9634534-Age of Onset,
pubmed-meshheading:9634534-Alleles,
pubmed-meshheading:9634534-Chromosome Mapping,
pubmed-meshheading:9634534-Chromosomes, Human, Pair 6,
pubmed-meshheading:9634534-Consanguinity,
pubmed-meshheading:9634534-Female,
pubmed-meshheading:9634534-Genes, Recessive,
pubmed-meshheading:9634534-Genetic Linkage,
pubmed-meshheading:9634534-Humans,
pubmed-meshheading:9634534-Lod Score,
pubmed-meshheading:9634534-Male,
pubmed-meshheading:9634534-Parkinson Disease,
pubmed-meshheading:9634534-Pedigree,
pubmed-meshheading:9634534-Recombination, Genetic,
pubmed-meshheading:9634534-Superoxide Dismutase
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pubmed:year |
1998
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pubmed:articleTitle |
Autosomal recessive juvenile parkinsonism maps to 6q25.2-q27 in four ethnic groups: detailed genetic mapping of the linked region.
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pubmed:affiliation |
Department of Neurology, Columbia University College of Physicians and Surgeons, New York, NY 10032, USA.
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pubmed:publicationType |
Journal Article,
Research Support, U.S. Gov't, P.H.S.,
Research Support, Non-U.S. Gov't
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