Parkinson's disease-dementia in trans LRP10 and GBA variants: Response to deep brain stimulation

Parkinson's disease-dementia in trans LRP10 and GBA variants: Response to deep brain stimulation

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....

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Bibliographic Details
Published in:Parkinsonism & related disorders Vol. 92; pp. 72 - 75
Main Authors: Neri, Marcella, Braccia, Arianna, Panteghini, Celeste, Garavaglia, Barbara, Gualandi, Francesca, Cavallo, Michele Alessandro, Scerrati, Alba, Ferlini, Alessandra, Sensi, Mariachiara
Format: Journal Article
Language:English
Published: England Elsevier Ltd 01-11-2021
Subjects:
Deep Brain Stimulation
Dementia - genetics
Dementia - therapy
Familial Parkinson's disease
GBA
Genetic Variation
Glucosylceramidase - genetics
Humans
LDL-Receptor Related Proteins - genetics
LRP10
Male
Medical Illustration
Middle Aged
Parkinson Disease - genetics
Parkinson Disease - therapy
Parkinson's disease and dementia
Phenotype
Treatment Outcome
Parkinson's disease and dementia
LRP10
Deep brain stimulation
Familial Parkinson's disease
GBA
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Summary: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. •LRP10 gene is causative of hereditary Parkinson's disease with associated dementia•The L444P missense variant in the GBA gene is a risk factor for Parkinson's disease•In our patient in trans heterozygosis for LRP10 variant and GBA L444P variant was associated to an earlier age at onset, more rapid motor progression and cognitive decline•This is the first case of a patient affected with LRP10-related PD-dementia who underwent DBS with excellent response in motor features despite of the rapid progression of cognitive deterioration•DBS should be carefully evaluated even when a cognitive deterioration is present considering the benefit to motor characteristics that could partially mitigate the malignant course of the disease and the burden on caregivers
ISSN:1353-8020
1873-5126
DOI:10.1016/j.parkreldis.2021.10.020