rdf:type |
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lifeskim:mentions |
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pubmed:issue |
9
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pubmed:dateCreated |
2001-9-17
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pubmed:abstractText |
We recently discovered an autosomal dominant disease causing a progressive dementia. The disease is caused by a point mutation in the gene coding for the serine protease inhibitor (ie, serpin) neuroserpin. The mutation results in an unstable neuroserpin protein that readily aggregates into intraneuronal inclusions that we identify as Collins bodies. The bodies are distributed throughout the cerebral hemispheres but are significantly more numerous in the cortex and the substantia nigra. We have named the disease familial encephalopathy with neuroserpin inclusion bodies (FENIB).
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pubmed:grant |
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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 |
Sep
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pubmed:issn |
0003-9942
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pubmed:author |
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pubmed:issnType |
Print
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pubmed:volume |
58
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
1429-34
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pubmed:dateRevised |
2007-11-14
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pubmed:meshHeading |
pubmed-meshheading:11559315-Adult,
pubmed-meshheading:11559315-Cognition Disorders,
pubmed-meshheading:11559315-Electroencephalography,
pubmed-meshheading:11559315-Family Health,
pubmed-meshheading:11559315-Female,
pubmed-meshheading:11559315-Heredodegenerative Disorders, Nervous System,
pubmed-meshheading:11559315-Humans,
pubmed-meshheading:11559315-Inclusion Bodies,
pubmed-meshheading:11559315-Magnetic Resonance Imaging,
pubmed-meshheading:11559315-Male,
pubmed-meshheading:11559315-Middle Aged,
pubmed-meshheading:11559315-Neuropeptides,
pubmed-meshheading:11559315-Neuropsychological Tests,
pubmed-meshheading:11559315-Point Mutation,
pubmed-meshheading:11559315-Serpins,
pubmed-meshheading:11559315-Tomography, Emission-Computed, Single-Photon
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pubmed:year |
2001
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pubmed:articleTitle |
Cognitive deficits associated with a recently reported familial neurodegenerative disease: familial encephalopathy with neuroserpin inclusion bodies.
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pubmed:affiliation |
Department of Neurology, Upstate Medical University, 750 E Adams St, Syracuse, NY 13210, USA.
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pubmed:publicationType |
Journal Article,
Research Support, U.S. Gov't, P.H.S.
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