|
Parkinsonian Disorders
|
0.200 |
Biomarker
|
group |
BEFREE |
The average age of symptom onset was significantly higher in the parkinsonism group of SCA2 (51.5 ± 8.9 vs. 35.3 ± 12.6 years, p = .007) than those with pure ataxia.
|
31523939 |
2019 |
|
Parkinsonian Disorders
|
0.200 |
GeneticVariation
|
group |
BEFREE |
We identified a SCA1 intermediate allele in a MSA-C subject (36 CAG), a SCA2 intermediate allele in a MSA-P patient (31 CAG), and a pathologically expanded SCA2 allele (36 CAG) in a patient initially misdiagnosed as MSA-C. No intermediate or expanded SCA alleles were detected in controls.
|
29715545 |
2018 |
|
Parkinsonian Disorders
|
0.200 |
GeneticVariation
|
group |
BEFREE |
C9orf72 and ATXN2 repeat expansions coexist in a family with ataxia, dementia, and parkinsonism.
|
28124431 |
2017 |
|
Parkinsonian Disorders
|
0.200 |
Biomarker
|
group |
BEFREE |
We describe a Korean family in SCA2 with long-duration levodopa-responsive parkinsonism without cerebellar ataxia.
|
28462804 |
2017 |
|
Parkinsonian Disorders
|
0.200 |
Biomarker
|
group |
BEFREE |
In addition to classic cerebellar and brainstem signs, however, SCA2 can also present as a parkinsonian syndrome or as amyotrophic lateral sclerosis.
|
27298447 |
2016 |
|
Parkinsonian Disorders
|
0.200 |
GeneticVariation
|
group |
BEFREE |
CAG expansion within the exon 1 of ataxin-2 (ATXN2) gene responsible for spinocerebellar ataxia-2 (SCA2) has been reported to cause pure parkinsonism and other neurodegenerative disorders.
|
25189117 |
2015 |
|
Parkinsonian Disorders
|
0.200 |
Biomarker
|
group |
BEFREE |
Our observation that lesions of the motor territory of the subthalamic nucleus were consistently associated with the prevention of parkinsonism in our SCA2 and SCA3 patients matches the clinical experience that selective targeting of the motor territory of the subthalamic nucleus by focal lesions or deep brain stimulation can ameliorate parkinsonian motor features and is likely to counteract the manifestation of parkinsonism in SCA2 and SCA3 despite a severe neurodegeneration of the dopaminergic substantia nigra.
|
26362908 |
2015 |
|
Parkinsonian Disorders
|
0.200 |
GeneticVariation
|
group |
BEFREE |
Parkinsonism in SCA2 has unique genetic characteristics, such as low number of expansions and interrupted structures, which may explain the sporadic cases with low penetrance.
|
25866756 |
2015 |
|
Parkinsonian Disorders
|
0.200 |
Biomarker
|
group |
BEFREE |
In the preclinical stage of SCA2 parkinsonism, the connectivity of a part of the basal ganglia motor loop is weakened as a consequence of dopaminergic deficits; meanwhile, the connectivity of other large-scale brain networks is strengthened presumably to compensate for the dysfunction of the basal ganglia to maintain brain function in the early stage of dopaminergic deficits.
|
23000299 |
2013 |
|
Parkinsonian Disorders
|
0.200 |
GeneticVariation
|
group |
BEFREE |
Progression was faster in patients with SCA2 mutations and normal alleles with 22 or fewer repeats (P = .02) and in patients with SCA3 mutations with parkinsonism and/or dystonia at baseline (P = .003).
|
22491195 |
2012 |
|
Parkinsonian Disorders
|
0.200 |
GeneticVariation
|
group |
BEFREE |
ATXN-2 alleles with the same length and structure have been reported in SCA2 patients with parkinsonism or in familial and sporadic Parkinson.
|
21537950 |
2011 |
|
Parkinsonian Disorders
|
0.200 |
GeneticVariation
|
group |
LHGDN |
Homozygous SCA 2 mutations changes phenotype and hastens progression.
|
18265007 |
2008 |
|
Parkinsonian Disorders
|
0.200 |
GeneticVariation
|
group |
LHGDN |
Routine screening for SCA2 and SCA3 in ET and atypical Parkinsonism patients may not be cost effective.
|
17712857 |
2007 |
|
Parkinsonian Disorders
|
0.200 |
Biomarker
|
group |
BEFREE |
Are interrupted SCA2 CAG repeat expansions responsible for parkinsonism?
|
17568014 |
2007 |
|
Parkinsonian Disorders
|
0.200 |
GeneticVariation
|
group |
BEFREE |
To examine the presence of an ATXN2 mutation in patients with parkinsonism in the Korean population and to find the difference in the ATXN2 mutation between ataxic and parkinsonian phenotypes.
|
17923635 |
2007 |
|
Parkinsonian Disorders
|
0.200 |
Biomarker
|
group |
BEFREE |
Recent reports of SCA2 and SCA3 patients who presented with levodopa responsive parkinsonism have generated considerable interest as they have implications for genetic testing.
|
16687213 |
2006 |
|
Parkinsonian Disorders
|
0.200 |
Biomarker
|
group |
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 |
|
Parkinsonian Disorders
|
0.200 |
GeneticVariation
|
group |
BEFREE |
We suggest that SCA6, in common with SCA2 and SCA3, may be associated with Parkinsonism attributable to nigral loss and dopaminergic dysfunction.
|
15954136 |
2005 |
|
Parkinsonian Disorders
|
0.200 |
Biomarker
|
group |
BEFREE |
To investigate SCA2 as the possible cause of familial parkinsonism in our series and subsequently to analyze the correlation between the clinical manifestation and CAG repeat size in the ataxin-2 gene product.
|
14732617 |
2004 |
|
Parkinsonian Disorders
|
0.200 |
GeneticVariation
|
group |
BEFREE |
We report on a young woman from the United Kingdom with L-dopa-responsive parkinsonism with a trinucleotide repeat expansion in her spinocerebellar ataxia 2 (SCA2) gene.
|
15133829 |
2004 |
|
Parkinsonian Disorders
|
0.200 |
GeneticVariation
|
group |
BEFREE |
Recent reports have shown trinucleotide repeat expansions in the spinocerebellar ataxia 2 (SCA2) gene in patients with levodopa-responsive parkinsonism.
|
12671950 |
2003 |
|
Parkinsonian Disorders
|
0.200 |
GeneticVariation
|
group |
LHGDN |
Recent reports have shown trinucleotide repeat expansions in the spinocerebellar ataxia 2 (SCA2) gene in patients with levodopa-responsive parkinsonism.
|
12671950 |
2003 |
|
Parkinsonian Disorders
|
0.200 |
Biomarker
|
group |
BEFREE |
Interestingly, 4 patients (1 with SCA2, 1 with SCA3, and 2 with SCA6) were misdiagnosed as having multiple-system atrophy because of the absence of family history and the presence of parkinsonism and urinary incontinence.
|
12810491 |
2003 |
|
Parkinsonian Disorders
|
0.200 |
Biomarker
|
group |
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 |
|
Parkinsonian Disorders
|
0.200 |
GeneticVariation
|
group |
BEFREE |
Families with autosomal dominant, levodopa-responsive parkinsonism should be tested for the SCA-2 mutation.
|
12451209 |
2002 |