Giada Cuconato
YOU?
Author Swipe
View article: Long-Term Motor and Cognitive Outcome of Deep Brain Stimulation in Patients With Parkinson Disease With a <i>GBA1</i> Pathogenic Variant
Long-Term Motor and Cognitive Outcome of Deep Brain Stimulation in Patients With Parkinson Disease With a <i>GBA1</i> Pathogenic Variant Open
This study provides Class III evidence that DBS does not worsen cognitive function in patients with GBA1-associated PD.
View article: Unraveling the role of GBA1 genotype in axial signs response to subthalamic deep brain stimulation
Unraveling the role of GBA1 genotype in axial signs response to subthalamic deep brain stimulation Open
GBA1 variants represent the most common genetic risk factor for Parkinson's disease (PD) and are associated with higher risk of developing cognitive decline and axial motor impairment. While cognitive outcomes following subthalamic deep br…
View article: LONG-NEXT: A new accurate and efficient NGS-based method for GBA1 analysis in Parkinson disease
LONG-NEXT: A new accurate and efficient NGS-based method for GBA1 analysis in Parkinson disease Open
View article: Male sex accelerates cognitive decline in GBA1 Parkinson’s disease
Male sex accelerates cognitive decline in GBA1 Parkinson’s disease Open
View article: Mitochondrial <scp>DNA</scp> (<scp>mtDNA</scp>) as fluid biomarker in neurodegenerative disorders: A systematic review
Mitochondrial <span>DNA</span> (<span>mtDNA</span>) as fluid biomarker in neurodegenerative disorders: A systematic review Open
Background Several studies evaluated peripheral and cerebrospinal fluid (CSF) mtDNA as a putative biomarker in neurodegenerative diseases, often yielding inconsistent findings. We systematically reviewed the current evidence assessing bloo…
View article: Male sex accelerates cognitive decline in GBA1 Parkinson’s Disease
Male sex accelerates cognitive decline in GBA1 Parkinson’s Disease Open
We evaluated 128 GBA and 432 nonGBA Parkinson’s disease (PD) subjects. Baseline clinical features and dopaminergic activity were assessed, together with 7-year clinical follow-up. Survival analyses assessed the independent and interactive …
View article: Combined detrimental effect of male sex and GBA1 variants on cognitive decline in Parkinson’s Disease
Combined detrimental effect of male sex and GBA1 variants on cognitive decline in Parkinson’s Disease Open
Background and Objective Heterozygous variants in the glucocerebrosidase gene ( GBA1 ) are the major genetic risk factor for Parkinson’s Disease (PD). GBA-PD has been associated with worse progression and higher risk of cognitive decline. …
View article: Ambroxol as a disease-modifying treatment to reduce the risk of cognitive impairment in <i>GBA</i>-associated Parkinson’s disease: a multicentre, randomised, double-blind, placebo-controlled, phase II trial. The AMBITIOUS study protocol
Ambroxol as a disease-modifying treatment to reduce the risk of cognitive impairment in <i>GBA</i>-associated Parkinson’s disease: a multicentre, randomised, double-blind, placebo-controlled, phase II trial. The AMBITIOUS study protocol Open
Background Heterozygous mutations in the GBA gene, encoding the lysosomal enzyme β-glucocerebrosidase (GCase), are the most frequent genetic risk factor for Parkinson’s disease (PD). GBA -related PD (GBA-PD) patients have higher risk of de…
View article: Are patients with GBA–Parkinson disease good candidates for deep brain stimulation? A longitudinal multicentric study on a large Italian cohort
Are patients with GBA–Parkinson disease good candidates for deep brain stimulation? A longitudinal multicentric study on a large Italian cohort Open
Background GBA variants increase the risk of developing Parkinson disease (PD) and influence its outcome. Deep brain stimulation (DBS) is a recognised therapeutic option for advanced PD. Data on DBS long-term outcome in GBA carriers are sc…
View article: Harmonizing Genetic Testing for Parkinson's Disease: Results of the PARKNET Multicentric Study
Harmonizing Genetic Testing for Parkinson's Disease: Results of the PARKNET Multicentric Study Open
Background and Objective Early‐onset Parkinson's disease (EOPD) commonly recognizes a genetic basis; thus, patients with EOPD are often addressed to diagnostic testing based on next‐generation sequencing (NGS) of PD‐associated multigene pa…