LRP10 in autosomal‐dominant Parkinson's disease

@article{Chen2019LRP10IA,
  title={LRP10 in autosomal‐dominant Parkinson's disease},
  author={You Chen and Zhidong Cen and Xiaosheng Zheng and Qinqing Pan and Xinhui Chen and Lili Zhu and Si Chen and Hongwei Wu and Fei Xie and Haotian Wang and Dehao Yang and Lebo Wang and Baorong Zhang and Wei Luo},
  journal={Movement Disorders},
  year={2019},
  volume={34}
}
Recently, the LRP10 gene has been identified as a novel genetic cause in individuals affected by Parkinson's disease (PD), Parkinson's disease dementia, or dementia with Lewy bodies. 
View on Wiley
ncbi.nlm.nih.gov
14 Citations
Background Citations
2

14 Citations

Analysis of the LRP10 gene in patients with Parkinson’s disease and dementia with Lewy bodies from Southern Italy
Recently, the LRP10 gene has been associated with Parkinson’s disease (PD), Parkinson’s disease with dementia (PDD), and dementia with Lewy bodies (DLB). The aim of the present study was to evaluate…
Screening of LRP10 mutations in Parkinson's disease patients from Italy.
Genetics of Parkinson's disease
TLDR
A comprehensive overview on PD genetics is provided to provide a comprehensive overview of the genetic architecture underlying this disease as families harboring rare genetic variants are sparse and globally widespread.
Role of LRP10 in Parkinson's disease in a Taiwanese cohort.
Clinical and Pathological Phenotypes of LRP10 Variant Carriers with Dementia
TLDR
Findings suggest a role for LRP10 across a broad neurodegenerative spectrum as well as some patients with dementia and different brain pathologies including DLB, mixed AD/LBD, and AD.
Mutation analysis of LRP10 in a large Chinese familial Parkinson disease cohort
Genetics of Parkinson's disease: An introspection of its journey towards precision medicine
LRP10 Mutations May Correlate with Sporadic Parkinson’s Disease in China
TLDR
This study provides genetic evidence that LRP10 defects may correlate with sporadic Parkinson’s disease and identifies five variants that were predicted to be disease-causing or damaging by multiple in silico tools.
Rare, pathogenic variants in LRP10 are associated with amyotrophic lateral sclerosis in patients from mainland China
Monogenic Parkinson’s Disease: Genotype, Phenotype, Pathophysiology, and Genetic Testing
TLDR
It is highlighted that monogenic Parkinson’s disease is influenced by ethnicity and geographical differences, reinforcing the need for global efforts to pool large numbers of patients and identify novel candidate genes.
...
...

References

SHOWING 1-10 OF 19 REFERENCES
LRP10 genetic variants in familial Parkinson's disease and dementia with Lewy bodies: a genome-wide linkage and sequencing study
Parkinson's disease: from monogenic forms to genetic susceptibility factors.
TLDR
Genome-wide associations and re-sequencing projects, together with gene-environment interaction studies, are expected to further define the causal role of genetic determinants in the pathogenesis of PD, and improve prevention and treatment.
Multisystem Lewy body disease and the other parkinsonian disorders
Here we prioritize as multisystem Lewy body disease (MLBD) those genetic forms of Parkinson's disease that point the way toward a mechanistic understanding of the majority of sporadic disease.…
The genetic landscape of Parkinson's disease.
Genetic analysis of LRRK2 A419V variant in ethnic Chinese
When does Parkinson's disease begin?
TLDR
A long preclinical or asymptomatic period may occur in Parkinson's disease (PD) and the presence of early-life risk factors is consistent with a long prodromal period.
Accuracy of clinical diagnosis of idiopathic Parkinson's disease: a clinico-pathological study of 100 cases.
TLDR
The pathological findings in 100 patients diagnosed prospectively by a group of consultant neurologists as having idiopathic Parkinson's disease are reported, and these observations call into question current concepts of Parkinson's Disease as a single distinct morbid entity.
Dementia with Lewy Bodies and Parkinson Disease Dementia: It is the Same Disease!
  • J. Friedman
  • Medicine, Psychology
    Parkinsonism & related disorders
  • 2018
MDS clinical diagnostic criteria for Parkinson's disease
  • R. Postuma, D. Berg, G. Deuschl
  • Psychology, Medicine
    Movement disorders : official journal of the Movement Disorder Society
  • 2015
TLDR
The Movement Disorder Society PD Criteria retain motor parkinsonism as the core feature of the disease, defined as bradykinesia plus rest tremor or rigidity, and two levels of certainty are delineated: clinically established PD and probable PD.
Analysis of protein-coding genetic variation in 60,706 humans
TLDR
The aggregation and analysis of high-quality exome (protein-coding region) DNA sequence data for 60,706 individuals of diverse ancestries generated as part of the Exome Aggregation Consortium (ExAC) provides direct evidence for the presence of widespread mutational recurrence.
...
...