Switch to
| Predicate | Object |
|---|---|
| rdf:type | |
| lifeskim:mentions | |
| pubmed:issue |
1
|
| pubmed:dateCreated |
1995-2-10
|
| pubmed:abstractText |
We present clinical, neuropsychological, and neuropathologic data on a large pedigree including 34 subjects with early-onset progressive dementia. The mean (+/- SD) age at onset was 46 +/- 3.5 years and the mean age at death 52.6 +/- 5.7 years. Twelve patients were clinically diagnosed as having probable Alzheimer's disease (AD) according to the NINCDS-ADRDA criteria. Neuropsychological evaluation, performed at a moderate stage of the disease, was available in six subjects and showed a classic pattern of cognitive deficit. Myoclonus and extrapyramidal signs were common, and seizures were present in all affected subjects. There were neuropathologic changes typical of AD in two brains. A significant lod score of 5.48 was observed at a recombination fraction of theta = 0.0 with the genetic marker D14S43, thereby establishing that the responsible gene was located on chromosome 14q24.3. These results suggest that epilepsy could represent a particular feature in AD families linked to chromosome 14q.
|
| pubmed:language |
eng
|
| pubmed:journal | |
| pubmed:citationSubset |
AIM
|
| pubmed:chemical | |
| pubmed:status |
MEDLINE
|
| pubmed:month |
Jan
|
| pubmed:issn |
0028-3878
|
| pubmed:author | |
| pubmed:issnType |
Print
|
| pubmed:volume |
45
|
| pubmed:owner |
NLM
|
| pubmed:authorsComplete |
N
|
| pubmed:pagination |
80-5
|
| pubmed:dateRevised |
2010-11-18
|
| pubmed:meshHeading |
pubmed-meshheading:7824141-Age of Onset,
pubmed-meshheading:7824141-Alzheimer Disease,
pubmed-meshheading:7824141-Brain,
pubmed-meshheading:7824141-Chromosome Mapping,
pubmed-meshheading:7824141-Chromosomes, Human, Pair 14,
pubmed-meshheading:7824141-DNA,
pubmed-meshheading:7824141-Female,
pubmed-meshheading:7824141-Genetic Linkage,
pubmed-meshheading:7824141-Genetic Markers,
pubmed-meshheading:7824141-Humans,
pubmed-meshheading:7824141-Leukocytes,
pubmed-meshheading:7824141-Male,
pubmed-meshheading:7824141-Middle Aged,
pubmed-meshheading:7824141-Neurofibrillary Tangles,
pubmed-meshheading:7824141-Neuropsychological Tests,
pubmed-meshheading:7824141-Pedigree,
pubmed-meshheading:7824141-Polymerase Chain Reaction,
pubmed-meshheading:7824141-Reference Values,
pubmed-meshheading:7824141-Sex Characteristics,
pubmed-meshheading:7824141-Sex Factors
|
| pubmed:year |
1995
|
| pubmed:articleTitle |
A large pedigree with early-onset Alzheimer's disease: clinical, neuropathologic, and genetic characterization.
|
| pubmed:affiliation |
CHR Rouen, France.
|
| pubmed:publicationType |
Journal Article,
Clinical Trial,
Comparative Study,
Case Reports,
Controlled Clinical Trial,
Research Support, Non-U.S. Gov't
|