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A Hexanucleotide Repeat Expansion in C9ORF72 Is the Cause of Chromosome 9p21-Linked ALS-FTD
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TREM2 variants in Alzheimer's disease.
TLDR
Heterozygous rare variants in TREM2 are associated with a significant increase in the risk of Alzheimer's disease.
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Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study
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Rare coding variants in PLCG2, ABI3, and TREM2 implicate microglial-mediated innate immunity in Alzheimer's disease
TLDR
Three new genome-wide significant nonsynonymous variants associated with Alzheimer's disease are observed, providing additional evidence that the microglia-mediated innate immune response contributes directly to the development of Alzheimer's Disease.
View on Nature
Parkinson’s disease in GTP cyclohydrolase 1 mutation carriers
TLDR
Mutations in the gene encoding the dopamine-synthetic enzyme GTP cyclohydrolase-1 (GCH1) cause DOPA-responsive dystonia and are associated with an increased risk of Parkinson's disease in both DRD pedigrees and in patients with Parkinson's Disease but without a family history of DRD.
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Systematic Review and UK‐Based Study of PARK2 (parkin), PINK1, PARK7 (DJ‐1) and LRRK2 in early‐onset Parkinson's disease
TLDR
This study screened 136 EOPD probands from a high‐ascertainment regional and community‐based prevalence study for pathogenic mutations in PARK2 (parkin), PINK1, PARK7 (DJ‐1), and exon 41 of LRRK2 and shows an increased likelihood of mutations in patients with lower AAO, family history, or parental consanguinity.
View on Wiley
Excessive burden of lysosomal storage disorder gene variants in Parkinson’s disease
TLDR
It is suggested that multiple genetic hits may act in combination to degrade lysosomal function, enhancing Parkinson's disease susceptibility.
View on Wolters Kluwer
Loss of VPS13C Function in Autosomal-Recessive Parkinsonism Causes Mitochondrial Dysfunction and Increases PINK1/Parkin-Dependent Mitophagy.
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Repeat expansion in C9ORF72 in Alzheimer's disease.
A hexanucleotide repeat expansion in the gene C9ORF72 has been implicated in the development of amyotrophic lateral sclerosis and frontotemporal dementia. The variant has also been found in a small…
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Common polygenic variation enhances risk prediction for Alzheimer's disease.
TLDR
Alzheimer's disease has a significant polygenic component, which has predictive utility for Alzheimer's disease risk and could be a valuable research tool complementing experimental designs, including preventative clinical trials, stem cell selection and high/low risk clinical studies.
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