|
rdf:type |
|
|
lifeskim:mentions |
umls-concept:C0002395,
umls-concept:C0007806,
umls-concept:C0013362,
umls-concept:C0026882,
umls-concept:C0037771,
umls-concept:C0205216,
umls-concept:C0205314,
umls-concept:C0332281,
umls-concept:C0441889,
umls-concept:C0679622,
umls-concept:C0962722,
umls-concept:C1723136,
umls-concept:C1843571,
umls-concept:C1850419,
umls-concept:C1869507,
umls-concept:C1970036,
umls-concept:C2354310
|
|
pubmed:issue |
4
|
|
pubmed:dateCreated |
2010-5-11
|
|
pubmed:abstractText |
A novel presenilin1 (PSEN1) mutation associated with dementia and spastic paraplegia in a family with five affected individuals is described. The index patient was a 35-year-old man presenting with cognitive decline, behavioural symptoms, dysarthria, and gait disorder due to spasticity.
|
|
pubmed:language |
eng
|
|
pubmed:journal |
|
|
pubmed:citationSubset |
IM
|
|
pubmed:chemical |
|
|
pubmed:status |
MEDLINE
|
|
pubmed:month |
Apr
|
|
pubmed:issn |
1468-1331
|
|
pubmed:author |
|
|
pubmed:issnType |
Electronic
|
|
pubmed:volume |
17
|
|
pubmed:owner |
NLM
|
|
pubmed:authorsComplete |
Y
|
|
pubmed:pagination |
631-3
|
|
pubmed:dateRevised |
2010-11-18
|
|
pubmed:meshHeading |
pubmed-meshheading:19912322-Adult,
pubmed-meshheading:19912322-Age of Onset,
pubmed-meshheading:19912322-Alzheimer Disease,
pubmed-meshheading:19912322-Amyloid beta-Peptides,
pubmed-meshheading:19912322-Brain,
pubmed-meshheading:19912322-Dysarthria,
pubmed-meshheading:19912322-Family,
pubmed-meshheading:19912322-Female,
pubmed-meshheading:19912322-Fluorodeoxyglucose F18,
pubmed-meshheading:19912322-Humans,
pubmed-meshheading:19912322-Magnetic Resonance Imaging,
pubmed-meshheading:19912322-Male,
pubmed-meshheading:19912322-Mutation, Missense,
pubmed-meshheading:19912322-Paraparesis, Spastic,
pubmed-meshheading:19912322-Pedigree,
pubmed-meshheading:19912322-Positron-Emission Tomography,
pubmed-meshheading:19912322-Presenilin-1
|
|
pubmed:year |
2010
|
|
pubmed:articleTitle |
A novel presenilin1 mutation (Q223R) associated with early onset Alzheimer's disease, dysarthria and spastic paraparesis and decreased Abeta levels in CSF.
|
|
pubmed:affiliation |
Department of Neurology, University Hospital, Ulm, Germany.
|
|
pubmed:publicationType |
Journal Article,
Case Reports
|
