|
[D]Sleep disturbances (& [hypersomnia] or [insomnia])
|
|
0.010 |
GeneticVariation
|
BEFREE |
Neuronal expression of familial Parkinson's disease A53T α-synuclein causes early motor impairment, reduced anxiety and potential sleep disturbances in mice.
|
23938351 |
2013 |
|
Young onset Parkinson disease
|
|
0.040 |
GeneticVariation
|
BEFREE |
The PD-linked mutations (A30P and A53T) were observed to affect both the morphology and the size distribution of alpha-synuclein protofibrils (measured by analytical ultracentrifugation and scanning transmission electron microscopy).
|
12367530 |
2002 |
|
Young onset Parkinson disease
|
|
0.040 |
GeneticVariation
|
BEFREE |
The results do not support a role for this mutation in our patients with early onset PD and, in agreement with the results previously reported, indicate that the Ala53Thr mutation of the alpha-synuclein gene is a rare cause of PD.
|
9389595 |
1997 |
|
Young onset Parkinson disease
|
|
0.040 |
GeneticVariation
|
BEFREE |
Although essentially all cases of sporadic and early-onset Parkinson's disease are of unknown etiology, two point mutations (A53T and A30P) in the alpha-synuclein gene have been identified in familial early-onset Parkinson's disease.
|
11560511 |
2001 |
|
Young onset Parkinson disease
|
|
0.040 |
GeneticVariation
|
BEFREE |
With these observations, we suggest that the A53T and A30P mutants may have different physiological consequences in vivo and could possibly contribute to early onset Parkinson's disease via unique mechanisms.
|
11812148 |
2002 |
|
Varicosity
|
|
0.010 |
GeneticVariation
|
BEFREE |
Here we generated de novo induced pluripotent stem cells (iPSCs) from patients harboring the p.A53T mutation and developed a robust model that captures PD pathogenic processes under basal conditions. iPSC-derived mutant neurons displayed novel disease-relevant phenotypes, including protein aggregation, compromised neuritic outgrowth, and contorted or fragmented axons with swollen varicosities containing αSyn and Tau.
|
28416701 |
2017 |
|
Sporadic Parkinson disease
|
|
0.040 |
GeneticVariation
|
BEFREE |
We report here the immunohistochemical, biochemical and ultrastructural characterization of alpha-syn neuropathology in a case of familial PD with the A53T alpha-syn gene mutation.
|
15144854 |
2004 |
|
Sporadic Parkinson disease
|
|
0.040 |
GeneticVariation
|
BEFREE |
The clinical characteristics of 15 patients with PD living in Greece with the Ala53Thr alpha-synuclein mutation (alpha-synPD) were compared with patients with sporadic Parkinson's disease (sPD).
|
11309462 |
2001 |
|
Sporadic Parkinson disease
|
|
0.040 |
GeneticVariation
|
BEFREE |
Furthermore, to enhance the pathological properties of α-synuclein, we inserted into SNCA an A53T mutation, two single-nucleotide polymorphisms identified in a genome-wide association study in Parkinson's disease and a Rep1 polymorphism, all of which are causal of familial Parkinson's disease or increase the risk of sporadic Parkinson's disease.
|
31816026 |
2020 |
|
Sporadic Parkinson disease
|
|
0.040 |
GeneticVariation
|
BEFREE |
Here we generated de novo induced pluripotent stem cells (iPSCs) from patients harboring the p.A53T mutation and developed a robust model that captures PD pathogenic processes under basal conditions. iPSC-derived mutant neurons displayed novel disease-relevant phenotypes, including protein aggregation, compromised neuritic outgrowth, and contorted or fragmented axons with swollen varicosities containing αSyn and Tau.
|
28416701 |
2017 |
|
Sleep disturbances
|
|
0.010 |
GeneticVariation
|
BEFREE |
Neuronal expression of familial Parkinson's disease A53T α-synuclein causes early motor impairment, reduced anxiety and potential sleep disturbances in mice.
|
23938351 |
2013 |
|
Sleep Disorders
|
|
0.020 |
GeneticVariation
|
BEFREE |
Neuronal expression of familial Parkinson's disease A53T α-synuclein causes early motor impairment, reduced anxiety and potential sleep disturbances in mice.
|
23938351 |
2013 |
|
Sleep Disorders
|
|
0.020 |
GeneticVariation
|
BEFREE |
Transgenic A53T is expressed in the monkey brain and causes age-dependent non-motor symptoms, including cognitive defects and anxiety phenotype, without detectable sleeping disorders.
|
25552648 |
2015 |
|
Secondary Parkinson Disease
|
|
0.010 |
GeneticVariation
|
BEFREE |
In this study we evaluated the apoptotic response to oxidative stress induced by 2-deoxy-d-ribose (dRib) in peripheral blood lymphocytes (PBLs) of two siblings with Parkinson disease secondary to A53T alpha-synuclein mutation.
|
18061619 |
2008 |
|
Progressive Neoplastic Disease
|
|
0.010 |
GeneticVariation
|
BEFREE |
The two A53T heterozygotes had markedly different neuropathology and different parkin genotypes: A N167 homozygote had early onset rapidly progressive disease, early dementia, myoclonus and sleep disorder, while a S167 homozygote had late onset, slowly progressive disease and late dementia.
|
18389263 |
2008 |
|
Progressive cGVHD
|
|
0.010 |
GeneticVariation
|
BEFREE |
The two A53T heterozygotes had markedly different neuropathology and different parkin genotypes: A N167 homozygote had early onset rapidly progressive disease, early dementia, myoclonus and sleep disorder, while a S167 homozygote had late onset, slowly progressive disease and late dementia.
|
18389263 |
2008 |
|
Presenile dementia
|
|
0.030 |
GeneticVariation
|
BEFREE |
Our results confirm that the p. A53T SNCA mutation is relatively common in Greek patients with PD or PD plus dementia, particularly in cases with early onset and/or autosomal dominant family history.
|
29233723 |
2018 |
|
Presenile dementia
|
|
0.030 |
GeneticVariation
|
BEFREE |
Moreover, cerebrospinal fluid (CSF) levels of tau, p-tau and amyloid Aβ42 were measured in these patients and in an additional cohort of 5 symptomatic and 2 asymptomatic p.A53T carriers without an initial manifestation of dementia.
|
28012952 |
2017 |
|
Presenile dementia
|
|
0.030 |
GeneticVariation
|
BEFREE |
Therefore, the unraveled tau-mediated signaling cascade may contribute to the pathogenesis of dementia in A53T α-synuclein-linked familial PD cases, as well as some subgroups of PD cases with extensive tau pathology.<b>SIGNIFICANCE STATEMENT</b> Here, we report mutation-specific postsynaptic deficits that are caused by A53T mutant α-synuclein, which is linked to familial Parkinson's disease (PD).
|
30249789 |
2018 |
|
Pick Disease of the Brain
|
|
0.010 |
GeneticVariation
|
BEFREE |
A screen of Greek patients presenting with frontotemporal dementia failed to identify any additional subjects with the p.A53T SNCA mutation.
|
28012952 |
2017 |
|
Parkinsonian Disorders
|
|
0.070 |
GeneticVariation
|
BEFREE |
Although cognitive decline has been recognized as a feature of the full-blown clinical picture of p.A53T related parkinsonism, a predominant frontotemporal dementia-like phenotype at presentation has not been previously described.
|
28012952 |
2017 |
|
Parkinsonian Disorders
|
|
0.070 |
GeneticVariation
|
BEFREE |
Serotonergic pathology and disease burden in the premotor and motor phase of A53T α-synuclein parkinsonism: a cross-sectional study.
|
31229470 |
2019 |
|
Parkinsonian Disorders
|
|
0.070 |
GeneticVariation
|
BEFREE |
We screened for the p. A53T SNCA mutation a total of 347 cases of Greek origin with parkinsonism and/or dementia, collected over 15 years at the Neurogenetics Unit, Eginition Hospital, University of Athens.
|
29233723 |
2018 |
|
Parkinsonian Disorders
|
|
0.070 |
GeneticVariation
|
BEFREE |
For this study, SIRT3-myc was administered both before and after viral induction of parkinsonism with the AAV-expressing mutant (A53T) α-synuclein.
|
28673739 |
2017 |
|
Parkinsonian Disorders
|
|
0.070 |
GeneticVariation
|
BEFREE |
Fibrillar accumulation of A53T mutant α-synuclein (A53T-AS) in Lewy bodies is a symptom of Parkinsonism.
|
28786917 |
2017 |