Genotype-phenotype correlations between GBA mutations and Parkinson disease risk and onset

@article{GanOr2008GenotypephenotypeCB,
  title={Genotype-phenotype correlations between GBA mutations and Parkinson disease risk and onset},
  author={Z. Gan-Or and Nir Giladi and U. Rozovski and C. Shifrin and S. Rosner and T. Gurevich and A. Bar‐Shira and A. Orr-Urtreger},
  journal={Neurology},
  year={2008},
  volume={70},
  pages={2277 - 2283}
}
BACKGROUND Mutations in GBA and LRRK2 genes have been implicated in Parkinson disease (PD), particularly in Ashkenazi Jews. [...] Key MethodRESULTS GBA carrier frequency was 17.9% in patients with PD compared to 4.2% in elderly and 6.35% in young controls. The proportion of severe mutation carriers among PD patient GBA carriers was 29% compared to 7% among young controls.Expand
LRRK2, GBA and SMPD1 Founder Mutations and Parkinson's Disease in Ashkenazi Jews
TLDR
Although only GBA mutation carriers, compared to noncarriers, reached statistical significance regarding age at diagnosis, it appears that LRRK2 and SMPD1 mutation carriers may reach significance with larger group numbers. Expand
Carriers of both GBA and LRRK2 mutations, compared to carriers of either, in Parkinson's disease: Risk estimates and genotype-phenotype correlations.
TLDR
While GBA-PD is characterized by higher rates of dementia, probable RBD and psychosis, it seems that compared to the other groups, these features are less common for LRRK2-GBA- PD, which may imply to a possible protective effect of L RRK2 p.G2019S mutation among GBA variant carriers. Expand
Association between GBA L444P mutation and sporadic Parkinson's disease from Mainland China
TLDR
The data suggest that the GBA L444P mutation plays an important role in the development of PD also in Han-Chinese patients from Mainland China. Expand
Clinical profiles associated with LRRK2 and GBA mutations in Brazilians with Parkinson's disease
TLDR
The results suggest that specific mutations in GBA and LRRK2 influence the clinical signs of the disease, with significant implications for handling of specific patient groups. Expand
Trio approach reveals higher risk of PD in carriers of severe vs. mild GBA mutations.
TLDR
Using an unbiased methodology, it is shown that carriers of severe GBA mutations are at higher risk for PD relative to carriers of the mild mutations. Expand
Parkinson disease phenotype in Ashkenazi jews with and without LRRK2 G2019S mutations
TLDR
PD in AJ LRRK2 G2019S mutation carriers is similar to idiopathic PD but is characterized by more frequent lower extremity involvement at onset and PIGD without the associated cognitive impairment. Expand
Mutations in glucocerebrosidase are a major genetic risk factor for Parkinson’s disease and increase susceptibility to dementia in a Flanders-Belgian cohort
TLDR
In the Flanders-Belgian cohort, carrier status of a heterozygous GBA mutation was a strong genetic risk factor for PD and clinical data suggest a more severe motor phenotype and a strong predisposition to dementia in G BA mutation carriers. Expand
A "dose" effect of mutations in the GBA gene on Parkinson's disease phenotype.
TLDR
The severity of PD phenotype is related to the burden of GBA mutations with GD-PD patients manifesting a more severe phenotype. Expand
Greater risk of parkinsonism associated with non-N370S GBA1 mutations
TLDR
This study conducted a secondary analysis of cross-sectional data assessing the prevalence of parkinsonism in a population of GD1 patients and their heterozygote and non-carrier family members and found that among GBA1 heterozygotes, non-N370S mutations were associated with a significantly increased risk of park Parkinsonism compared to N370S. Expand
Glucocerebrosidase Gene L444P mutation is a risk factor for Parkinson's disease in Chinese population
TLDR
The results suggest that the GBA gene L444P mutation appears to be a risk factor for PD in Chinese population, and the possible role in Ashkenazi Jewish and non‐Jewish populations is evaluated. Expand
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The G 2019S mutation is a risk factor in both early- and late-onset Parkinson disease and confirms the previous report of a greater frequency of the G2019S mutation in Jewish than in non-Jewish cases with Parkinson disease. Expand
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Clinically, all 16 patients carrying a GBA mutation presented with a typical parkinsonian phenotype and experienced a good or excellent response to levodopa and Mutations of the GBA gene may be associated with the development of EOPD in Taiwan. Expand
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The results suggest that heterozygosity for a GBA mutation may predispose Ashkenazi Jews to Parkinson's disease. Expand
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TLDR
The clinical features and the findings of the PET studies suggest that patients with parkinsonism associated with the mutation in the glucocerebrosidase gene, even in heterozygosis, may be related to the presynaptic dopaminergic neuronal dysfunction reported in Parkinson's disease. Expand
Glucocerebrosidase mutations are also found in subjects with early‐onset parkinsonism from Venezuela
TLDR
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TLDR
The N370S allele (nt.1226 A>G) may be associated with PD in patients of Jewish ethnicity and should be examined in a larger study. Expand
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