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Identification of genetic variants associated with Huntington's disease progression: a genome-wide association study
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Association of LRRK2 exonic variants with susceptibility to Parkinson's disease: a case–control study
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LINGO1 and LINGO2 variants are associated with essential tremor and Parkinson disease
TLDR
A role for LINGO1 and LingerO2 in determining risk for and perhaps age at onset of ET and PD is supported and further studies are warranted to confirm these findings and to determine the pathogenic mechanisms involved.
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Independent and joint effects of the MAPT and SNCA genes in Parkinson disease
We studied the independent and joint effects of the genes encoding alpha‐synuclein (SNCA) and microtubule‐associated protein tau (MAPT) in Parkinson disease (PD) as part of a large meta‐analysis of…
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A multi-centre clinico-genetic analysis of the VPS35 gene in Parkinson disease indicates reduced penetrance for disease-associated variants
TLDR
This study performed the largest multi-center study to ascertain the frequency and pathogenicity of the reported vacuolar protein sorting 35 gene variants in more than 15,000 individuals worldwide and identified the p.Asp620Asn variant in familial cases and identified it in idiopathic Parkinson disease cases.
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LINGO1 rs9652490 is associated with essential tremor and Parkinson disease.
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Observing Huntington’s Disease: the European Huntington’s Disease Network’s REGISTRY
TLDR
The unparalleled collection of clinical data and biomaterials within the EHDN’s REGISTRY can expedite the search for disease modifiers of age at onset and disease progression that could be harnessed for the development of novel treatments.
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Association of alpha-, beta-, and gamma-Synuclein with diffuse lewy body disease.
TLDR
It is suggested that variants in all 3 members of the synuclein gene family, particularly SNCA and SNCG, affect the risk of developing DLBD and warrant further investigation in larger, pathologically defined data sets as well as clinically diagnosed Parkinson disease/dementia with Lewy bodies case-control series.
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An independent replication of PARK16 in Asian samples
TLDR
The most significant SNP in the European study (rs823128) showed a 1% difference in minor allele frequency (MAF) between patients with PD and control subjects, resulting in an odds ratio (OR) of 0.66.
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A comparative study of LRRK2, PINK1 and genetically undefined familial Parkinson's disease
TLDR
Clinical differences between LRRK2, PINK1 and genetically undefined familial PD appear more pronounced than previously appreciated, and may prove useful in clinical practice.
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