|
Paraparesis, Spastic
|
0.200 |
GeneticVariation
|
phenotype |
BEFREE |
Our results suggest that SP in carriers of the A431E PSEN1 mutation is a manifestation of widespread white-matter abnormalities not confined to the corticospinal tract that is at most indirectly related to the mutation's effect on amyloid precursor protein processing and amyloid deposition.
|
27614114 |
2016 |
|
Paraparesis, Spastic
|
0.200 |
GeneticVariation
|
phenotype |
BEFREE |
We report the case of a 37-year-old man suffering from insidious visual agnosia and spastic paraparesis due to a PSEN1 mutation.
|
22517194 |
2013 |
|
Paraparesis, Spastic
|
0.200 |
GeneticVariation
|
phenotype |
BEFREE |
Presenilin 1 (PSEN1) gene mutations deterministic for Alzheimer's disease (AD) are associated with marked heterogeneity in clinical phenotype, with behavioral and psychiatric features, parkinsonism, myoclonus, epileptic seizures, spastic paraparesis, frontal behavioral changes suggestive of the phenotype of frontotemporal dementia, aphasia, and cerebellar ataxia being described as well as cognitive decline.
|
23948899 |
2013 |
|
Paraparesis, Spastic
|
0.200 |
GeneticVariation
|
phenotype |
BEFREE |
Most of the "functional" mutations for ER Ca2+ leak were clustered in the exon 8-9 area of PSEN1 gene and segregated with the cotton wool plaques and spastic paraparesis clinical phenotype occasionally observed in PS1 FAD patients.
|
20634584 |
2010 |
|
Paraparesis, Spastic
|
0.200 |
GeneticVariation
|
phenotype |
BEFREE |
The feature of amnestic presentation with spastic paraparesis is consistent with the majority of mutations in the exon 8 of the PSEN1 1 gene.
|
18637955 |
2008 |
|
Paraparesis, Spastic
|
0.200 |
GeneticVariation
|
phenotype |
LHGDN |
The feature of amnestic presentation with spastic paraparesis is consistent with the majority of mutations in the exon 8 of the PSEN1 1 gene.
|
18637955 |
2008 |
|
Paraparesis, Spastic
|
0.200 |
Biomarker
|
phenotype |
BEFREE |
The SP phenotype in some PSEN1 AD pedigrees also appears to be associated with a delayed onset of dementia compared with affected individuals who present with dementia only, suggesting the existence of a protective factor in some individuals with SP.
|
17995932 |
2008 |
|
Paraparesis, Spastic
|
0.200 |
GeneticVariation
|
phenotype |
BEFREE |
A presenilin 1 mutation (L420R) in a family with early onset Alzheimer disease, seizures and cotton wool plaques, but not spastic paraparesis.
|
17645236 |
2007 |
|
Paraparesis, Spastic
|
0.200 |
GeneticVariation
|
phenotype |
BEFREE |
A presenilin 1 mutation (Arg278Ser) associated with early onset Alzheimer's disease and spastic paraparesis.
|
17507029 |
2007 |
|
Paraparesis, Spastic
|
0.200 |
GeneticVariation
|
phenotype |
LHGDN |
A presenilin 1 mutation (L420R) in a family with early onset Alzheimer disease, seizures and cotton wool plaques, but not spastic paraparesis.
|
17645236 |
2007 |
|
Paraparesis, Spastic
|
0.200 |
GeneticVariation
|
phenotype |
LHGDN |
To investigate whether known genes that cause spastic paraparesis could act as Alzheimer's disease-modifier genes, we sequenced nine spastic paraparesis genes in three Alzheimer's disease families with PSEN1 exon 9 deletions.
|
17632280 |
2007 |
|
Paraparesis, Spastic
|
0.200 |
GeneticVariation
|
phenotype |
BEFREE |
Spastic paraparesis is a common neurological phenotype associated with Alzheimer's disease arising from PSEN1 mutations.
|
17632280 |
2007 |
|
Paraparesis, Spastic
|
0.200 |
GeneticVariation
|
phenotype |
LHGDN |
The novel PSEN1 mutation identified in this patient adds to the diverse list of existing mutations causing EOFAD associated with spastic paraparesis.
|
17507029 |
2007 |
|
Paraparesis, Spastic
|
0.200 |
GeneticVariation
|
phenotype |
LHGDN |
Biological effects of four PSEN1 gene mutations causing Alzheimer disease with spastic paraparesis and cotton wool plaques.
|
16941492 |
2006 |
|
Paraparesis, Spastic
|
0.200 |
GeneticVariation
|
phenotype |
BEFREE |
Biological effects of four PSEN1 gene mutations causing Alzheimer disease with spastic paraparesis and cotton wool plaques.
|
16941492 |
2006 |
|
Paraparesis, Spastic
|
0.200 |
GeneticVariation
|
phenotype |
BEFREE |
Novel insertional presenilin 1 mutation causing Alzheimer disease with spastic paraparesis.
|
15159497 |
2004 |
|
Paraparesis, Spastic
|
0.200 |
GeneticVariation
|
phenotype |
BEFREE |
A novel presenilin 1 mutation (Y154N) in a patient with early onset Alzheimer's disease with spastic paraparesis.
|
15364419 |
2004 |
|
Paraparesis, Spastic
|
0.200 |
GeneticVariation
|
phenotype |
BEFREE |
To describe a novel mutation in the PSEN1 gene associated with early-onset Alzheimer disease with spastic paraparesis.
|
15534188 |
2004 |
|
Paraparesis, Spastic
|
0.200 |
CausalMutation
|
phenotype |
CLINVAR |
Presenilin-1 mutation L271V results in altered exon 8 splicing and Alzheimer's disease with non-cored plaques and no neuritic dystrophy.
|
12493737 |
2003 |
|
Paraparesis, Spastic
|
0.200 |
GeneticVariation
|
phenotype |
LHGDN |
Spastic paraparesis and atypical dementia caused by PSEN1 mutation (P264L), responsible for Alzheimer's disease.
|
11836371 |
2002 |
|
Paraparesis, Spastic
|
0.200 |
GeneticVariation
|
phenotype |
BEFREE |
They were first described in a Finnish kindred with early-onset Alzheimer disease (AD) with spastic paraparesis due to a presenilin-1 delta9 mutation.
|
11706935 |
2001 |
|
Paraparesis, Spastic
|
0.200 |
GeneticVariation
|
phenotype |
BEFREE |
A variant form of Alzheimer's disease (AD), in which spastic paraparesis (SP) precedes dementia, is characterised by large, noncored, weakly neuritic Abeta-amyloid plaques resembling cotton wool balls and is caused by genomic deletion of presenilin 1 exon 9.
|
11198283 |
2001 |
|
Paraparesis, Spastic
|
0.200 |
GeneticVariation
|
phenotype |
BEFREE |
Variant Alzheimer disease (varAD) is clinically characterized by the combination of presenile dementia with spastic paraparesis and is caused by certain mutations of the presenilin 1 (PS-1) gene.
|
11379823 |
2001 |