Variant: rs63750687 

    present in Gene: PSEN1
    present in Chromosome: 14
    Position on Chromosome: 73217137
    Alleles of this Variant: C/A;G;T

rs63750687 in PSEN1 gene and Abnormal conjugate eye movement PMID 24121961 2014 A novel p.Leu(381)Phe mutation in presenilin 1 is associated with very early onset and unusually fast progressing dementia as well as lysosomal inclusions typically seen in Kufs disease.

rs63750687 in PSEN1 gene and Abnormal posture PMID 24121961 2014 A novel p.Leu(381)Phe mutation in presenilin 1 is associated with very early onset and unusually fast progressing dementia as well as lysosomal inclusions typically seen in Kufs disease.

rs63750687 in PSEN1 gene and Abnormality of the cerebellum PMID 24121961 2014 A novel p.Leu(381)Phe mutation in presenilin 1 is associated with very early onset and unusually fast progressing dementia as well as lysosomal inclusions typically seen in Kufs disease.

rs63750687 in PSEN1 gene and Abnormality of the outer ear PMID 24121961 2014 A novel p.Leu(381)Phe mutation in presenilin 1 is associated with very early onset and unusually fast progressing dementia as well as lysosomal inclusions typically seen in Kufs disease.

rs63750687 in PSEN1 gene and Alzheimer disease, familial, type 3 PMID 15364419 2004 A novel presenilin 1 mutation (Y154N) in a patient with early onset Alzheimer's disease with spastic paraparesis.

PMID 9833068 1998 A novel Leu171Pro mutation in presenilin-1 gene in a Mexican family with early onset Alzheimer disease.

PMID 21500874 2010 Preventing Alzheimer's disease and cognitive decline.

PMID 12370477 2002 Presenilin-1 mutation (E280G), spastic paraparesis, and cranial MRI white-matter abnormalities.

PMID 7651536 1995 Familial Alzheimer's disease in kindreds with missense mutations in a gene on chromosome 1 related to the Alzheimer's disease type 3 gene.

PMID 26280335 2015 An atomic structure of human γ-secretase.

PMID 20831773 2010 EFNS guidelines for the diagnosis and management of Alzheimer's disease.

PMID 8837617 1996 The E280A presenilin 1 Alzheimer mutation produces increased A beta 42 deposition and severe cerebellar pathology.

PMID 16305624 2006 C-terminal PAL motif of presenilin and presenilin homologues required for normal active site conformation.

PMID 21501661 2011 A novel PSEN1 gene mutation (L235R) associated with familial early-onset Alzheimer's disease.

PMID 22529981 2012 Alzheimer's disease-linked mutations in presenilin-1 result in a drastic loss of activity in purified γ-secretase complexes.

PMID 11561050 2001 Very early onset Alzheimer's disease with spastic paraparesis associated with a novel presenilin 1 mutation (Phe237Ile).

PMID 19667325 2009 Presenilin1 G217R mutation linked to Alzheimer disease with cotton wool plaques.

PMID 24121961 2014 A novel p.Leu(381)Phe mutation in presenilin 1 is associated with very early onset and unusually fast progressing dementia as well as lysosomal inclusions typically seen in Kufs disease.

PMID 27930341 2017 Analysis of 138 pathogenic mutations in presenilin-1 on the in vitro production of Aβ42 and Aβ40 peptides by γ-secretase.

PMID 9719376 1998 De novo presenilin 1 mutations are rare in clinically sporadic, early onset Alzheimer's disease cases. French Alzheimer's Disease Study Group.

PMID 29175279 2018 Genetic screening in two Iranian families with early-onset Alzheimer's disease identified a novel PSEN1 mutation.

PMID 20298421 2010 EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias.

PMID 26145164 2015 Novel presenilin 1 mutation (p.I83T) in Tunisian family with early-onset Alzheimer's disease.

PMID 24582897 2014 A novel presenilin 1 mutation (Ala275Val) as cause of early-onset familial Alzheimer disease.

PMID 24829003 2014 Fourth Canadian Consensus Conference on the Diagnosis and Treatment of Dementia: recommendations for family physicians.

PMID 25394380 2015 G206D Mutation of Presenilin-1 Reduces Pen2 Interaction, Increases Aβ42/Aβ40 Ratio and Elevates ER Ca(2+) Accumulation.

PMID 10200054 1998 Missense mutation in exon 11 (Codon 378) of the presenilin-1 gene in a French family with early-onset Alzheimer's disease and transmission study by mismatch enhanced allele specific amplification. Mutations in brief no. 141. Online. besancon@rockefeller1.univ.lyon1.fr.

PMID 11796781 2002 A novel mutation (V89L) in the presenilin 1 gene in a family with early onset Alzheimer's disease and marked behavioural disturbances.

rs63750687 in PSEN1 gene and Ankle clonus PMID 24121961 2014 A novel p.Leu(381)Phe mutation in presenilin 1 is associated with very early onset and unusually fast progressing dementia as well as lysosomal inclusions typically seen in Kufs disease.

rs63750687 in PSEN1 gene and Bilateral wrist flexion contracture PMID 24121961 2014 A novel p.Leu(381)Phe mutation in presenilin 1 is associated with very early onset and unusually fast progressing dementia as well as lysosomal inclusions typically seen in Kufs disease.

rs63750687 in PSEN1 gene and Bradykinesia PMID 24121961 2014 A novel p.Leu(381)Phe mutation in presenilin 1 is associated with very early onset and unusually fast progressing dementia as well as lysosomal inclusions typically seen in Kufs disease.

rs63750687 in PSEN1 gene and Byzanthine arch palate PMID 24121961 2014 A novel p.Leu(381)Phe mutation in presenilin 1 is associated with very early onset and unusually fast progressing dementia as well as lysosomal inclusions typically seen in Kufs disease.

rs63750687 in PSEN1 gene and Cerebellar atrophy PMID 24121961 2014 A novel p.Leu(381)Phe mutation in presenilin 1 is associated with very early onset and unusually fast progressing dementia as well as lysosomal inclusions typically seen in Kufs disease.

rs63750687 in PSEN1 gene and Decreased muscle mass PMID 24121961 2014 A novel p.Leu(381)Phe mutation in presenilin 1 is associated with very early onset and unusually fast progressing dementia as well as lysosomal inclusions typically seen in Kufs disease.

rs63750687 in PSEN1 gene and Deglutition Disorders PMID 24121961 2014 A novel p.Leu(381)Phe mutation in presenilin 1 is associated with very early onset and unusually fast progressing dementia as well as lysosomal inclusions typically seen in Kufs disease.

rs63750687 in PSEN1 gene and Dry skin PMID 24121961 2014 A novel p.Leu(381)Phe mutation in presenilin 1 is associated with very early onset and unusually fast progressing dementia as well as lysosomal inclusions typically seen in Kufs disease.

rs63750687 in PSEN1 gene and Dystonia PMID 24121961 2014 A novel p.Leu(381)Phe mutation in presenilin 1 is associated with very early onset and unusually fast progressing dementia as well as lysosomal inclusions typically seen in Kufs disease.

rs63750687 in PSEN1 gene and Erythema PMID 24121961 2014 A novel p.Leu(381)Phe mutation in presenilin 1 is associated with very early onset and unusually fast progressing dementia as well as lysosomal inclusions typically seen in Kufs disease.

rs63750687 in PSEN1 gene and Flexion contracture - elbow PMID 24121961 2014 A novel p.Leu(381)Phe mutation in presenilin 1 is associated with very early onset and unusually fast progressing dementia as well as lysosomal inclusions typically seen in Kufs disease.

rs63750687 in PSEN1 gene and Flexion contracture of finger PMID 24121961 2014 A novel p.Leu(381)Phe mutation in presenilin 1 is associated with very early onset and unusually fast progressing dementia as well as lysosomal inclusions typically seen in Kufs disease.

rs63750687 in PSEN1 gene and Flexion contracture-shoulder PMID 24121961 2014 A novel p.Leu(381)Phe mutation in presenilin 1 is associated with very early onset and unusually fast progressing dementia as well as lysosomal inclusions typically seen in Kufs disease.

rs63750687 in PSEN1 gene and Generalized hyperreflexia PMID 24121961 2014 A novel p.Leu(381)Phe mutation in presenilin 1 is associated with very early onset and unusually fast progressing dementia as well as lysosomal inclusions typically seen in Kufs disease.

rs63750687 in PSEN1 gene and Loss of speech PMID 24121961 2014 A novel p.Leu(381)Phe mutation in presenilin 1 is associated with very early onset and unusually fast progressing dementia as well as lysosomal inclusions typically seen in Kufs disease.

rs63750687 in PSEN1 gene and Muscle Rigidity PMID 24121961 2014 A novel p.Leu(381)Phe mutation in presenilin 1 is associated with very early onset and unusually fast progressing dementia as well as lysosomal inclusions typically seen in Kufs disease.

rs63750687 in PSEN1 gene and Muscle Weakness Lower Limb PMID 24121961 2014 A novel p.Leu(381)Phe mutation in presenilin 1 is associated with very early onset and unusually fast progressing dementia as well as lysosomal inclusions typically seen in Kufs disease.

rs63750687 in PSEN1 gene and Open mouth (finding) PMID 24121961 2014 A novel p.Leu(381)Phe mutation in presenilin 1 is associated with very early onset and unusually fast progressing dementia as well as lysosomal inclusions typically seen in Kufs disease.

rs63750687 in PSEN1 gene and Overfolded helix PMID 24121961 2014 A novel p.Leu(381)Phe mutation in presenilin 1 is associated with very early onset and unusually fast progressing dementia as well as lysosomal inclusions typically seen in Kufs disease.

rs63750687 in PSEN1 gene and Pontocerebellar atrophy PMID 24121961 2014 A novel p.Leu(381)Phe mutation in presenilin 1 is associated with very early onset and unusually fast progressing dementia as well as lysosomal inclusions typically seen in Kufs disease.

rs63750687 in PSEN1 gene and Progressive inability to walk PMID 24121961 2014 A novel p.Leu(381)Phe mutation in presenilin 1 is associated with very early onset and unusually fast progressing dementia as well as lysosomal inclusions typically seen in Kufs disease.

rs63750687 in PSEN1 gene and Progressive spasticity PMID 24121961 2014 A novel p.Leu(381)Phe mutation in presenilin 1 is associated with very early onset and unusually fast progressing dementia as well as lysosomal inclusions typically seen in Kufs disease.

rs63750687 in PSEN1 gene and Saccadic smooth pursuit PMID 24121961 2014 A novel p.Leu(381)Phe mutation in presenilin 1 is associated with very early onset and unusually fast progressing dementia as well as lysosomal inclusions typically seen in Kufs disease.

rs63750687 in PSEN1 gene and Thick vermilion border PMID 24121961 2014 A novel p.Leu(381)Phe mutation in presenilin 1 is associated with very early onset and unusually fast progressing dementia as well as lysosomal inclusions typically seen in Kufs disease.