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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
10
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pubmed:dateCreated |
2001-5-28
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pubmed:abstractText |
The authors identified the second known mutation in the alpha-synuclein(SNCA) gene, an alanine-to-proline exchange in amino acid position 30 (A30P), that cosegregates with the disease in one German family with autosomal dominantly inherited parkinsonism (ADP). The authors studied carriers of the A30P mutation to compare the phenotype of this mutation with idiopathic PD (IPD) and to assess nigrostriatal dopaminergic function in symptomatic and preclinical mutation carriers.
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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 |
May
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pubmed:issn |
0028-3878
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pubmed:author |
pubmed-author:EpplenJ TJT,
pubmed-author:KrügerRR,
pubmed-author:KuhnWW,
pubmed-author:LeendersK LKL,
pubmed-author:MüllerTT,
pubmed-author:MaguireR PRP,
pubmed-author:PortmanA TAT,
pubmed-author:PrzuntekHH,
pubmed-author:RieszTT,
pubmed-author:SchölsLL,
pubmed-author:SchröderUU,
pubmed-author:SprengelmeyerRR,
pubmed-author:VeenmaLL,
pubmed-author:WoitallaDD
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pubmed:issnType |
Print
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pubmed:day |
22
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pubmed:volume |
56
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
1355-62
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pubmed:dateRevised |
2006-11-15
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pubmed:meshHeading |
pubmed-meshheading:11376188-Aged,
pubmed-meshheading:11376188-Alanine,
pubmed-meshheading:11376188-Amino Acid Sequence,
pubmed-meshheading:11376188-Apolipoproteins E,
pubmed-meshheading:11376188-Brain,
pubmed-meshheading:11376188-DNA Mutational Analysis,
pubmed-meshheading:11376188-Female,
pubmed-meshheading:11376188-Genotype,
pubmed-meshheading:11376188-Germany,
pubmed-meshheading:11376188-Humans,
pubmed-meshheading:11376188-Male,
pubmed-meshheading:11376188-Middle Aged,
pubmed-meshheading:11376188-Mutation,
pubmed-meshheading:11376188-Nerve Tissue Proteins,
pubmed-meshheading:11376188-Neuropsychological Tests,
pubmed-meshheading:11376188-Parkinsonian Disorders,
pubmed-meshheading:11376188-Pedigree,
pubmed-meshheading:11376188-Proline,
pubmed-meshheading:11376188-Synucleins,
pubmed-meshheading:11376188-Thiolester Hydrolases,
pubmed-meshheading:11376188-Tomography, Emission-Computed,
pubmed-meshheading:11376188-Ubiquitin Thiolesterase,
pubmed-meshheading:11376188-alpha-Synuclein
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pubmed:year |
2001
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pubmed:articleTitle |
Familial parkinsonism with synuclein pathology: clinical and PET studies of A30P mutation carriers.
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pubmed:affiliation |
Department of Neurology, St. Josef-Hospital, Ruhr-University, Bochum, Germany. rejko.krueger@gmx.de
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pubmed:publicationType |
Journal Article,
Case Reports,
Research Support, Non-U.S. Gov't
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