Parkinsonian Disorders
|
0.500 |
GeneticVariation
|
group |
BEFREE |
The clinical features of SNCA duplication include parkinsonism with or without dementia.
|
19562770 |
2009 |
Parkinsonian Disorders
|
0.500 |
GeneticVariation
|
group |
BEFREE |
Our results suggest that the novel SNCA A53E substitution is a causative mutation resulting clinically in parkinsonism and pathologically in severe multiple system atrophy- and PD-type phenotype.
|
24746362 |
2014 |
Parkinsonian Disorders
|
0.500 |
GeneticVariation
|
group |
BEFREE |
A missense mutation of the alpha-synuclein gene has been associated with parkinsonism in a large Italian kindred.
|
9566408 |
1998 |
Parkinsonian Disorders
|
0.500 |
GeneticVariation
|
group |
BEFREE |
Mutations in alpha-synuclein have been found to be responsible for rare familial cases of Parkinsonism.
|
11442360 |
2001 |
Parkinsonian Disorders
|
0.500 |
GeneticVariation
|
group |
BEFREE |
The patients carrying the SNCA triplication developed early-onset parkinsonism combined with depression, behavior disturbances, sleep disorders, and cognitive decline; marked autonomic dysfunctions were not observed.
|
26077166 |
2015 |
Parkinsonian Disorders
|
0.500 |
GeneticVariation
|
group |
BEFREE |
Parkinsonism-linked mutations in alanine and glutamic acid residues of the pre-synaptic protein α-Synuclein (α-Syn) affect specific tertiary interactions essential for stability of the native state and make it prone to more aggregation.
|
31385584 |
2019 |
Parkinsonian Disorders
|
0.500 |
GeneticVariation
|
group |
BEFREE |
Point mutations, duplications and triplications in the alpha-synuclein gene cause a rare dominant form of PS in families.
|
18787878 |
2008 |
Parkinsonian Disorders
|
0.500 |
GeneticVariation
|
group |
BEFREE |
Here, we describe a novel missense mutation in exon 4 of SNCA encoding a H50Q substitution in a patient with dopa-responsive Parkinson's disease with a family history of parkinsonism and dementia.
|
23457019 |
2013 |
Parkinsonian Disorders
|
0.500 |
GeneticVariation
|
group |
BEFREE |
The fact that Lewy bodies stain strongly with antibodies to asynuclein and that mutations in the alpha-synuclein gene lead to syndromes in which parkinsonism and dementia occur gives us important clues regarding the biologic processes leading to disease.
|
12489918 |
2002 |
Parkinsonian Disorders
|
0.500 |
GeneticVariation
|
group |
BEFREE |
We also detected strong associations at SNCA on 4q22 (P = 7.35 x 10(-17)) and LRRK2 on 12q12 (P = 2.72 x 10(-8)), both of which are implicated in autosomal dominant forms of parkinsonism.
|
19915576 |
2009 |
Parkinsonian Disorders
|
0.500 |
GeneticVariation
|
group |
BEFREE |
Lewy bodies, intraneuronal aggregates containing abnormal alpha-synuclein, are absent in most cases of parkinsonism with parkin mutations (Park2).
|
15455441 |
2004 |
Parkinsonian Disorders
|
0.500 |
GeneticVariation
|
group |
BEFREE |
Disorders with progressive accumulation of α-synuclein (α-syn) are a common cause of dementia and parkinsonism in the aging population.
|
28476636 |
2017 |
Parkinsonian Disorders
|
0.500 |
GeneticVariation
|
group |
BEFREE |
Mutations in five causative genes combined [alpha-Synuclein (SNCA), Parkin, PTEN-induced kinase 1 (PINK1), DJ-1, Leucine-rich repeat kinase 2 (LRRK2)] account for 2-3% of all cases with classical parkinsonism, often clinically indistinguishable from idiopathic Parkinson's disease.
|
17620882 |
2007 |
Parkinsonian Disorders
|
0.500 |
GeneticVariation
|
group |
BEFREE |
There appears to be four common processes linking the two disorders, as mutations in genes associated with Parkinsonism initiate similar adverse biological reactions acknowledged to stimulate Mn-induced dopaminergic cell death including; (1) disruption of mitochondrial function leading to oxidative stress, (2) abnormalities in vesicle processing, (3) altered proteasomal and lysosomal protein degradation, and (4) α-synuclein aggregation The mutual neurotoxic processes provoked by mutations in these genes in concert with the biological disturbances produced by Mn, most likely, act in synchrony to contribute to the severity, characteristics and onset of both disorders.
|
25149416 |
2014 |
Parkinsonian Disorders
|
0.500 |
GeneticVariation
|
group |
BEFREE |
Synucleinopathies are a spectrum of neurodegenerative diseases characterized by the intracellular deposition of the protein α-synuclein leading to multiple outcomes, including dementia and Parkinsonism.
|
28910367 |
2017 |
Parkinsonian Disorders
|
0.500 |
GeneticVariation
|
group |
BEFREE |
We examined 7 patients from a family harboring a novel mutation in the alpha-synuclein gene (E46K) that segregated with a phenotype of parkinsonism and dementia with Lewy bodies.
|
16001411 |
2005 |
Parkinsonian Disorders
|
0.500 |
GeneticVariation
|
group |
BEFREE |
Six α-synuclein (aSyn) point mutations are currently known to be associated with familial parkinsonism: A30P, E46K, H50Q, G51D, A53E, and A53T.
|
30605594 |
2019 |
Parkinsonian Disorders
|
0.500 |
GeneticVariation
|
group |
BEFREE |
α-Synuclein gene (SNCA) multiplications cause familial parkinsonism and allele-length polymorphisms within the SNCA dinucleotide repeat REP1 increase the risk for developing Parkinson's disease (PD).
|
24656894 |
2014 |
Parkinsonian Disorders
|
0.500 |
GeneticVariation
|
group |
BEFREE |
Multiple system atrophy (MSA) is a rare neurodegenerative disease of undetermined cause manifesting with progressive autonomic failure (AF), cerebellar ataxia and parkinsonism due to neuronal loss in multiple brain areas associated with (oligodendro)glial cytoplasmic alpha-synuclein (alpha SYN) inclusions (GCIs).
|
20493840 |
2010 |
Parkinsonian Disorders
|
0.500 |
GeneticVariation
|
group |
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
|
0.500 |
GeneticVariation
|
group |
BEFREE |
To investigate this question, human fibroblasts were taken from a patient with parkinsonism carrying a triplication in the α-syn gene.
|
23934919 |
2011 |
Parkinsonian Disorders
|
0.500 |
GeneticVariation
|
group |
BEFREE |
The discoveries of genes related to hereditary forms of parkinsonism (PARK1, PARK2, PARK6, PARK7 and PARK8) have increased our understanding either of distinct subtypes of clinical expression in PD or its etiology.
|
17388981 |
2007 |
Parkinsonian Disorders
|
0.500 |
GeneticVariation
|
group |
BEFREE |
Mutations in the alpha-synuclein (alpha-syn) gene are responsible for a rare familial parkinsonism syndrome, a finding that has led to extensive characterization of altered alpha-syn structure in sporadic Parkinson's disease (PD) and other neurodegenerative disorders.
|
15144854 |
2004 |
Parkinsonian Disorders
|
0.500 |
GeneticVariation
|
group |
BEFREE |
We found that over half of the reported cases with SNCA duplication had early-onset parkinsonism and non-motor features, such as dysautonomia, rapid eye movement sleep behavior disorder (RBD), hallucinations (usually visual) and cognitive deficits leading to dementia.
|
26350119 |
2016 |
Parkinsonian Disorders
|
0.500 |
GeneticVariation
|
group |
BEFREE |
Furthermore, studies in singly and doubly tg mice have shown that toxic conversion and accumulation can be accelerated by alpha-synuclein mutations associated with familial parkinsonism, by amyloid beta peptide 1-42 (Abeta 1-42), and by oxidative stress.
|
12846986 |
2003 |