Genetic analysis of the LRP10 gene in Chinese patients with Parkinson’s disease
Background Parkinson’s disease (PD) is a neurodegenerative disorder characterized by resting tremor, bradykinesia, muscle rigidity, and abnormal gait. The low-density lipoprotein receptor–related protein 10 (LRP10) was recently shown to be a causal gene for PD, and different ethnic cohorts have dist...
Gespeichert in:
Veröffentlicht in: | Neurological sciences 2023-03, Vol.44 (3), p.905-912 |
---|---|
Hauptverfasser: | , , , , , , , , , , , , |
Format: | Artikel |
Sprache: | eng |
Schlagworte: | |
Online-Zugang: | Volltext |
Tags: |
Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!
|
Zusammenfassung: | Background
Parkinson’s disease (PD) is a neurodegenerative disorder characterized by resting tremor, bradykinesia, muscle rigidity, and abnormal gait. The low-density lipoprotein receptor–related protein 10 (LRP10) was recently shown to be a causal gene for PD, and different ethnic cohorts have distinct frequencies and spectrum of LRP10 variants.
Methods
We sequenced the full coding regions and exon–intron boundaries of LRP10 in 129 patients with sporadic Chinese PD to further investigate the connection of LRP10 with PD in a sample of Chinese patients.
Results
In this study, we identified four potentially pathogenic mutations, including one novel mutation of p.Gly328Asp and three known mutations of p.Cys165Tyr, p.Arg230Trp, and p.Arg661His in four of the 129 Chinese patients with PD.
Conclusion
According to our study, the LRP10 gene may attribute to PD pathogenesis. |
---|---|
ISSN: | 1590-1874 1590-3478 |
DOI: | 10.1007/s10072-022-06496-9 |