|
Parkinsonian Disorders
|
0.500 |
GeneticVariation
|
group |
BEFREE |
Although the association between mutations in GBA1 and parkinsonism is well established, most GBA1 mutation carriers never develop parkinsonism, implicating the contribution of other genetic, epigenetic, and/or environmental modifiers.
|
31785030 |
2020 |
|
Parkinsonian Disorders
|
0.500 |
Biomarker
|
group |
BEFREE |
Thus, in patients with GBA1-associated parkinsonism, astrocytes appear to play a role in α-synuclein accumulation and processing, contributing to neuroinflammation.
|
31669751 |
2020 |
|
Parkinsonian Disorders
|
0.500 |
GeneticVariation
|
group |
BEFREE |
Twenty-nine of 109 probands with autosomal-recessive inheritance of parkinsonism (26.6%) were found to carry mutations in Parkin, PINK1, GBA, or HTRA2.
|
30788857 |
2019 |
|
Parkinsonian Disorders
|
0.500 |
Biomarker
|
group |
BEFREE |
In this review, we discuss evidence linking autophagic dysfunction to the pathophysiology of GD and GBA1-linked parkinsonism and focus more specifically on studies performed recently in iPSC-derived neurons.
|
29550539 |
2019 |
|
Parkinsonian Disorders
|
0.500 |
Biomarker
|
group |
BEFREE |
GBA1-associated parkinsonism: new insights and therapeutic opportunities.
|
31188151 |
2019 |
|
Parkinsonian Disorders
|
0.500 |
GeneticVariation
|
group |
BEFREE |
However, the majority of patients with GBA1 mutations never develop parkinsonism, so clearly other risk factors play a role.
|
31464647 |
2019 |
|
Parkinsonian Disorders
|
0.500 |
Biomarker
|
group |
BEFREE |
Mutations in GBA1 leads to GBA1 enzyme deficiency, and GBA1-associated parkinsonism has an earlier age of onset and more progressive parkinsonism.
|
29703245 |
2018 |
|
Parkinsonian Disorders
|
0.500 |
GeneticVariation
|
group |
BEFREE |
The discovery of a link between mutations in GBA1, encoding the lysosomal enzyme glucocerebrosidase, and the synucleinopathies directly resulted from the clinical recognition of patients with Gaucher disease with parkinsonism.
|
28231462 |
2017 |
|
Parkinsonian Disorders
|
0.500 |
GeneticVariation
|
group |
BEFREE |
Many GBA1 mutation carriers, especially those with severe or null GBA1 alleles, have earlier and more progressive parkinsonism.
|
29173981 |
2017 |
|
Parkinsonian Disorders
|
0.500 |
Biomarker
|
group |
BEFREE |
We review the literature of genetic PD autopsies from cases with molecularly confirmed PD or parkinsonism and summarize main findings on SNCA (n = 25), Parkin (n = 20, 17 bi-allelic and 3 heterozygotes), PINK1 (n = 5, 1 bi-allelic and 4 heterozygotes), DJ-1 (n = 1), LRRK2 (n = 55), GBA (n = 10 Gaucher disease patients with parkinsonism), DNAJC13, GCH1, ATP13A2, PLA2G6 (n = 8 patients, 2 with PD), MPAN (n = 2), FBXO7, RAB39B, and ATXN2 (SCA2), as well as on 22q deletion syndrome (n = 3).
|
29124790 |
2017 |
|
Parkinsonian Disorders
|
0.500 |
GeneticVariation
|
group |
BEFREE |
Because GBA1 mutations are the most common genetic risk factor for Parkinson disease, dopaminergic neurons were generated from iPSC lines derived from patients with Gaucher disease with and without parkinsonism.
|
27413154 |
2016 |
|
Parkinsonian Disorders
|
0.500 |
GeneticVariation
|
group |
BEFREE |
Our findings in a representative series of index cases from families with ADPD emphasize the important contribution of LRRK2 G2019S and GBA (L444P and N370S) mutations to parkinsonism in Brazilian families.
|
27777137 |
2016 |
|
Parkinsonian Disorders
|
0.500 |
Biomarker
|
group |
BEFREE |
Therefore, the current review focuses on α-syn and GCase, and it provides some new thoughts that may be helpful for understanding the α-syn-GCase interaction and unraveling the exact mechanism underlying GBA-associated parkinsonism.
|
25820783 |
2015 |
|
Parkinsonian Disorders
|
0.500 |
Biomarker
|
group |
CTD_human |
Selective loss of glucocerebrosidase activity in sporadic Parkinson's disease and dementia with Lewy bodies.
|
25881142 |
2015 |
|
Parkinsonian Disorders
|
0.500 |
Biomarker
|
group |
BEFREE |
In this review, we (i) outline how GBA was identified as a genetic risk factor for Parkinsonism, (ii) present clinical characteristics of GBA-associated Parkinsonism, (iii) discuss possible mechanisms of the underlying pathogenesis in GBA-associated Parkinsonism, and (iv) provide an outlook on potentially new areas of research and treatment that arise from this important discovery.
|
24894157 |
2014 |
|
Parkinsonian Disorders
|
0.500 |
GeneticVariation
|
group |
BEFREE |
In this population, each additional GBA1 mutation was associated with a non-significant two-fold increased risk of parkinsonism.
|
22968580 |
2013 |
|
Parkinsonian Disorders
|
0.500 |
GeneticVariation
|
group |
BEFREE |
We measured dopamine synthesis with (18)F-fluorodopa positron emission tomography, and resting regional cerebral blood flow with H(2)(15)O positron emission tomography in the wakeful, resting state in four study groups: (i) patients with Parkinson disease and Gaucher disease (n = 7, average age = 56.6 ± 9.2 years); (ii) patients with Parkinson disease without GBA mutations (n = 11, 62.1 ± 7.1 years); (iii) patients with Gaucher disease without parkinsonism, but with a family history of Parkinson disease (n = 14, 52.6 ± 12.4 years); and (iv) healthy GBA-mutation carriers with a family history of Parkinson disease (n = 7, 50.1 ± 18 years).
|
22843412 |
2012 |
|
Parkinsonian Disorders
|
0.500 |
GeneticVariation
|
group |
BEFREE |
The link between the GBA gene and parkinsonism.
|
23079555 |
2012 |
|
Parkinsonian Disorders
|
0.500 |
GeneticVariation
|
group |
BEFREE |
Recent genetic studies reveal that mutations in the gene GBA are the most widespread genetic risk factor for parkinsonism identified to date.
|
21653695 |
2011 |
|
Parkinsonian Disorders
|
0.500 |
GeneticVariation
|
group |
BEFREE |
Mutant GBA was found recently to be the most prevalent risk factor for familial parkinsonism.
|
20801700 |
2010 |
|
Parkinsonian Disorders
|
0.500 |
GeneticVariation
|
group |
LHGDN |
Parkinsonism among Gaucher disease carriers.
|
15591280 |
2004 |
|
Parkinsonian Disorders
|
0.500 |
Biomarker
|
group |
HPO |
|
|
|
|
Parkinsonian Disorders
|
0.500 |
SusceptibilityMutation
|
group |
CLINVAR |
|
|
|