| Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.160 | GeneticVariation | phenotype | BEFREE | The aim of this article is to report on an early-onset AD patient associated with the rare pathogenic variant PSEN1 (Leu85Pro) presenting as a possible corticobasal syndrome with asymmetric limb apraxia, parkinsonian signs, and myoclonus. | 31282415 | 2019 | ||||
|
0.160 | GeneticVariation | phenotype | BEFREE | Myoclonus and seizures were the most common additional neurological features; individuals with myoclonus (40 [47%] with PSEN1 mutations and 12 [33%] with APP mutations) were significantly more likely to develop seizures (p=0·001 for PSEN1; p=0·036 for APP), which affected around a quarter of the patients in each group (20 [24%] and nine [25%], respectively). | 27777022 | 2016 | ||||
|
0.160 | 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 | ||||
|
0.160 | GeneticVariation | phenotype | LHGDN | A novel mutation (L250V) in the presenilin 1 gene in a Japanese familial Alzheimer's disease with myoclonus and generalized convulsion. | 12686406 | 2003 | ||||
|
0.160 | GeneticVariation | phenotype | BEFREE | A novel mutation (L250V) in the presenilin 1 gene in a Japanese familial Alzheimer's disease with myoclonus and generalized convulsion. | 12686406 | 2003 | ||||
|
0.160 | GeneticVariation | phenotype | BEFREE | Ectopic white matter neurons, a developmental abnormality that may be caused by the PSEN1 S169L mutation in a case of familial AD with myoclonus and seizures. | 11764087 | 2001 | ||||
|
0.160 | GeneticVariation | phenotype | BEFREE | This family was characterized by relatively late onset (mean age at 50 years) in familial AD with PS-1 gene mutation and by absence of myoclonus, seizure or paratonia. | 9210248 | 1997 | ||||
|
0.160 | Biomarker | phenotype | HPO |