Parkinson's disease-dementia in trans LRP10 and GBA variants: Response to deep brain stimulation.
Deep brain stimulation
Familial Parkinson's disease
GBA
LRP10
Parkinson's disease and dementia
Journal
Parkinsonism & related disorders
ISSN: 1873-5126
Titre abrégé: Parkinsonism Relat Disord
Pays: England
ID NLM: 9513583
Informations de publication
Date de publication:
11 2021
11 2021
Historique:
received:
23
08
2021
revised:
06
10
2021
accepted:
16
10
2021
pubmed:
29
10
2021
medline:
4
2
2022
entrez:
28
10
2021
Statut:
ppublish
Résumé
We report on a patient with Parkinson's disease and dementia who underwent DBS with excellent response in motor features; the genotype is heterozygous for a novel LRP10 variant in trans with a GBA variant. He had a more severe phenotype compared to the father who only carries the LRP10 variant.
Identifiants
pubmed: 34710740
pii: S1353-8020(21)00375-8
doi: 10.1016/j.parkreldis.2021.10.020
pii:
doi:
Substances chimiques
LDL-Receptor Related Proteins
0
LRP10 protein, human
0
GBA protein, human
EC 3.2.1.45
Glucosylceramidase
EC 3.2.1.45
Types de publication
Case Reports
Letter
Langues
eng
Sous-ensembles de citation
IM
Pagination
72-75Commentaires et corrections
Type : CommentIn
Type : CommentIn
Informations de copyright
Copyright © 2021 Elsevier Ltd. All rights reserved.