|
Parkinson Disease
|
0.100 |
Biomarker
|
disease |
BEFREE |
In addition, the phenotype of SCA2 expansions has been now extended to Parkinson disease and amyotrophic lateral sclerosis.
|
29462666 |
2018 |
|
Parkinson Disease
|
0.100 |
Biomarker
|
disease |
BEFREE |
SCA2 should be considered as a cause of typical Parkinson's disease phenotype even in the absence of cerebellar ataxia.
|
28462804 |
2017 |
|
Parkinson Disease
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Ataxin-2 (ATXN2) polyglutamine domain expansions of large size result in an autosomal dominantly inherited multi-system-atrophy of the nervous system named spinocerebellar ataxia type 2 (SCA2), while expansions of intermediate size act as polygenic risk factors for motor neuron disease (ALS and FTLD) and perhaps also for Levodopa-responsive Parkinson's disease (PD).
|
27597528 |
2016 |
|
Parkinson Disease
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
In conclusion, the transcriptome data do not exclude the role of ATXN2 mutated alleles in PD but its decrease protein expression in both SCA2c and SCA2p patients suggest a potential involvement of this gene in PD.
|
27663142 |
2016 |
|
Parkinson Disease
|
0.100 |
Biomarker
|
disease |
BEFREE |
We aim to clarify the pathogenic role of intermediate size repeat expansions of SCA2, SCA3, SCA6, and SCA17 as risk factors for idiopathic Parkinson disease (PD).
|
26354989 |
2015 |
|
Parkinson Disease
|
0.100 |
Biomarker
|
disease |
BEFREE |
Both levodopa responsive Parkinson disease (PD) like phenotype and atypical parkinsonism have been described especially in SCA2, SCA3, and SCA17 with geographic differences in prevalence.
|
25866756 |
2015 |
|
Parkinson Disease
|
0.100 |
Biomarker
|
disease |
BEFREE |
The single RING finger type E3 ubiquitin-protein ligase PARK2 is mutated in a Parkinson's disease (PD) variant and was found to interact with ATXN2, a protein where polyglutamine expansions cause Spinocerebellar ataxia type 2 (SCA2) or increase the risk for Levodopa-responsive PD and for the motor neuron disease Amyotrophic lateral sclerosis (ALS).
|
25790475 |
2015 |
|
Parkinson Disease
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Pathogenic CAG (cytosine-adenine-guanine) expansions beyond certain thresholds in the ataxin-2 (ATXN2) gene cause spinocerebellar ataxia type 2 (SCA2) and were shown to contribute to Parkinson disease, amyotrophic lateral sclerosis and frontotemporal lobar degeneration.
|
22037902 |
2012 |
|
Parkinson Disease
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The study of 1490 patients with Parkinson's disease (PD) showed an enrichment of ATXN2 alleles 27/28 in a subgroup with familial cases, but the overall risk of sporadic PD was unchanged.
|
21889984 |
2012 |
|
Parkinson Disease
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The SCA2 cases confirmed an association between PD and interrupted expansions, as well as PD intrafamilial phenotypic homogeneity.
|
18990604 |
2009 |
|
Parkinson Disease
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
These findings suggest that a mutation in SCA2 or SCA3/MJD may be one of the genetic causes of PD.
|
19672991 |
2009 |
|
Parkinson Disease
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Thus, mutations of SCA2 or SCA3 did not play a major role in familial or early-onset PD in our study cohort.
|
17440947 |
2007 |
|
Parkinson Disease
|
0.100 |
Biomarker
|
disease |
LHGDN |
Importance of low-range CAG expansion and CAA interruption in SCA2 Parkinsonism.
|
17923635 |
2007 |
|
Parkinson Disease
|
0.100 |
GeneticVariation
|
disease |
LHGDN |
Thus, mutations of SCA2 or SCA3 did not play a major role in familial or early-onset PD in our study cohort.
|
17440947 |
2007 |
|
Parkinson Disease
|
0.100 |
Biomarker
|
disease |
BEFREE |
In the available patients with parkin, PINK1, SCA2 and SCA3, the dopamine transporter (DAT) scan revealed that the reduction of uptake was primarily observed in the bilateral putamen, basically sharing a similar pattern with that in idiopathic Parkinson's disease.
|
17017535 |
2006 |
|
Parkinson Disease
|
0.100 |
Biomarker
|
disease |
BEFREE |
We identified one positive case of SCA2 in an early-onset sporadic PD patient who had CAG 36 repeats, yielding a prevalence of 2.2% in early-onset sporadic PD patients and less than 1.0% in our study PD population.
|
16687213 |
2006 |
|
Parkinson Disease
|
0.100 |
Biomarker
|
disease |
BEFREE |
In order to define if mutation at these loci is a common cause of clinically defined parkinsonism we typed the SCA-2 and SCA-3 repeats for expansion in a series of 280 patients diagnosed with PD or parkinsonism.
|
15911147 |
2005 |
|
Parkinson Disease
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Although it is not possible to confirm if this patient has a de novo mutation of the SCA2 gene, this genetic defect seems to be contributing to his parkinsonian features and further supports the concept that apparently sporadic, late-onset, levodopa-responsive Parkinson's disease may have multiple causes.
|
15378681 |
2004 |
|
Parkinson Disease
|
0.100 |
Biomarker
|
disease |
BEFREE |
We have previously shown in several pedigrees that SCA-2 and SCA-3 can cause both parkinsonism and typical Parkinson's disease in the absence of prominent ataxia; a finding which has been confirmed by others.
|
12853230 |
2003 |