LRP10 genetic variants in familial Parkinson's disease and dementia with Lewy bodies: a genome-wide linkage and sequencing study

 LRP10 genetic variants in familial Parkinson's disease and dementia with Lewy bodies: a genome-wide linkage and sequencing study},
  author={Marialuisa Quadri and Wim Mandemakers and Martyna M. Grochowska and Roy G Masius and Piero Parchi and International Parkinsonism Genetics Network},
  journal={The Lancet Neurology},

The role of genetics in Parkinson's disease: a large cohort study in Chinese mainland population.

The data highlight the importance of genetic testing in Parkinson's disease patients with age at onset < 40 years, especially in those from families with a recessive inheritance pattern, who may benefit from early diagnosis and treatment.

Screening of LRP10 mutations in Parkinson's disease patients from Italy.

LRP10: A novel disease gene bridging Parkinson's disease and dementia with Lewy body

  • F. MorganteE. Valente
  • Biology, Medicine
    Movement disorders : official journal of the Movement Disorder Society
  • 2019
Although its function is largely unknown, LRP10 has been implicated in trafficking between the transGolgi network and endosomes and could be involved in the regulation of α-synuclein aggregation and cell-to-cell transmission, opening novel intriguing windows on the pathogenetic mechanisms underlying these disorders.

Genetics of Parkinson's disease

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.

Clinical and Pathological Phenotypes of LRP10 Variant Carriers with Dementia

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.

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



VPS35 mutations in Parkinson disease.

Multicenter analysis of glucocerebrosidase mutations in Parkinson's disease.

Data collected demonstrate that there is a strong association between GBA mutations and Parkinson's disease, and those with a GBA mutation presented earlier with the disease, were more likely to have affected relatives, and were morelikely to have atypical clinical manifestations.

A multicenter study of glucocerebrosidase mutations in dementia with Lewy bodies.

IMPORTANCE While mutations in glucocerebrosidase (GBA1) are associated with an increased risk for Parkinson disease (PD), it is important to establish whether such mutations are also a common risk

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.

Accuracy of clinical diagnosis of idiopathic Parkinson's disease: a clinico-pathological study of 100 cases.

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.

Distinct clinical and neuropathological features of G51D SNCA mutation cases compared with SNCA duplication and H50Q mutation

The characterisation of the clinical and neuropathological features of the present small series of G51D SNCA mutation cases should aid the recognition of this clinico-pathological entity.