LRP10 variants in progressive supranuclear palsy.
Neurobiol Aging
; 94: 311.e5-311.e10, 2020 10.
Article
de En
| MEDLINE
| ID: mdl-32527607
ABSTRACT
The aim of this study was to explore whether variants in LRP10, recently associated with Parkinson's disease and dementia with Lewy bodies, are observed in 2 large cohorts (discovery and validation cohort) of patients with progressive supranuclear palsy (PSP). A total of 950 patients with PSP were enrolled 246 patients with PSP (n = 85 possible (35%), n = 128 probable (52%), n = 33 definite (13%)) in the discovery cohort and 704 patients with definite PSP in the validation cohort. Sanger sequencing of all LRP10 exons and exon-intron boundaries was performed in the discovery cohort, and whole-exome sequencing was performed in the validation cohort. Two patients from the discovery cohort and 8 patients from the validation cohort carried a rare, heterozygous, and possibly pathogenic LRP10 variant (p.Gly326Asp, p.Asp389Asn, and p.Arg158His, p.Cys220Tyr, p.Thr278Ala, p.Gly306Asp, p.Glu486Asp, p.Arg554∗, p.Arg661Cys). In conclusion, possibly pathogenic LRP10 variants occur in a small fraction of patients with PSP and may be overrepresented in these patients compared with controls. This suggests that possibly pathogenic LRP10 variants may play a role in the development of PSP.
Mots clés
Texte intégral:
1
Collection:
01-internacional
Base de données:
MEDLINE
Sujet principal:
Variation génétique
/
Paralysie supranucléaire progressive
/
Protéines apparentées au récepteur LDL
Type d'étude:
Etiology_studies
/
Incidence_studies
/
Observational_studies
/
Risk_factors_studies
Limites:
Aged
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Female
/
Humans
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Male
/
Middle aged
Langue:
En
Journal:
Neurobiol Aging
Année:
2020
Type de document:
Article
Pays d'affiliation:
Pays-Bas