Fabiana Colucci
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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: Correction to: Sex Differences in Spinocerebellar Ataxia Type 1: Clinical Presentation and Progression
Correction to: Sex Differences in Spinocerebellar Ataxia Type 1: Clinical Presentation and Progression Open
View article: Opicapone in Parkinson's Disease on Levodopa‐Carbidopa Intestinal Gel Treatment: A Pilot, Randomized Study
Opicapone in Parkinson's Disease on Levodopa‐Carbidopa Intestinal Gel Treatment: A Pilot, Randomized Study Open
Background Levodopa‐carbidopa intestinal gel infusion (LCIG) is an effective therapy for advanced Parkinson's disease (PD). Opicapone (OPC) is an enzyme inhibitor that enhances the bioavailability of levodopa in the brain. Objectives This …
View article: Sex Differences in Spinocerebellar Ataxia Type 1: Clinical Presentation and Progression
Sex Differences in Spinocerebellar Ataxia Type 1: Clinical Presentation and Progression Open
View article: Effects of <i>GBA1</i> Variants in Patients With Parkinson's Disease and Levodopa–Carbidopa Intestinal Gel: A Nation‐Wide, Multicenter, Longitudinal, “Real‐World” Study. The <scp>EPIC</scp> Study
Effects of <i>GBA1</i> Variants in Patients With Parkinson's Disease and Levodopa–Carbidopa Intestinal Gel: A Nation‐Wide, Multicenter, Longitudinal, “Real‐World” Study. The <span>EPIC</span> Study Open
Background The outcome of levodopa/carbidopa intestinal gel (LCIG) in Parkinson's disease carriers of GBA1 mutations (GBA‐PD) remains uncertain. Objective To evaluate the safety and efficacy of LCIG in a large PD cohort, focusing on GBA1 v…
View article: LC-MS/MS-Based Determination of Ambroxol in Human Plasma and Cerebrospinal Fluid: Validation and Applicability in a Phase II Study on GBA-Associated Parkinson’s Disease Patients
LC-MS/MS-Based Determination of Ambroxol in Human Plasma and Cerebrospinal Fluid: Validation and Applicability in a Phase II Study on GBA-Associated Parkinson’s Disease Patients Open
Heterozygous mutations in the GBA1 gene, encoding the enzyme glucocerebrosidase (GCase), are major risk factors for Parkinson’s Disease (PD). Ambroxol, a small chaperone originally used as a mucolytic agent, has been shown to cross the blo…
View article: Genetic Profile and Symptom Pattern Explain Variability of Deep Brain Stimulation Effect in Dystonia
Genetic Profile and Symptom Pattern Explain Variability of Deep Brain Stimulation Effect in Dystonia Open
Objective Bilateral globus pallidus pars interna deep brain stimulation (GPi‐DBS) is a recognized and effective treatment option for drug‐resistant dystonia patients. However, the clinical GPi‐DBS outcomes vary significantly. Herein, we ex…
View article: Global improvement after deep brain stimulation in Parkinson’s disease: Comparison between patient and clinician perspectives
Global improvement after deep brain stimulation in Parkinson’s disease: Comparison between patient and clinician perspectives Open
Clinician-patient agreement on DBS improvement is moderate, with motor symptom amelioration only partially reflecting patients' overall perceived improvement. Various factors widen the gap of concordance, particularly in patients with subt…
View article: Sex differences in Spinocerebellar ataxia type 1: clinical presentation and progression
Sex differences in Spinocerebellar ataxia type 1: clinical presentation and progression Open
Background Spinocerebellar ataxia type 1 (SCA1) is characterised by motor and cognitive symptoms. Sex-specific differences in disease presentation and progression remain poorly understood. This study investigates the role of sex in clinica…
View article: Genetic Etiology Influences the Low‐Frequency Components of Globus Pallidus Internus Electrophysiology in Dystonia
Genetic Etiology Influences the Low‐Frequency Components of Globus Pallidus Internus Electrophysiology in Dystonia Open
Background Elevated low‐frequency activity (4–12 Hz) within the globus pallidus internus (GPi) has been consistently associated with dystonia. However, the impacts of the genetic etiology of dystonia on low‐frequency GPi activity remain un…
View article: Spiking Patterns in the Globus Pallidus Highlight Convergent Neural Dynamics across Diverse Genetic Dystonia Syndromes
Spiking Patterns in the Globus Pallidus Highlight Convergent Neural Dynamics across Diverse Genetic Dystonia Syndromes Open
Objective Genetic dystonia is a complex movement disorder with diverse clinical manifestations resulting from pathogenic mutations in associated genes. A recent paradigm shift emphasizes the functional convergence among dystonia genes, hin…
View article: Magnetic Resonance–Guided Focused Ultrasound Thalamotomy in a Prospective Cohort of 52 Patients with Parkinson's Disease: A Possible Critical Role of Age and Lesion Volume for Predicting Tremor Relapse
Magnetic Resonance–Guided Focused Ultrasound Thalamotomy in a Prospective Cohort of 52 Patients with Parkinson's Disease: A Possible Critical Role of Age and Lesion Volume for Predicting Tremor Relapse Open
Background Magnetic resonance–guided focused ultrasound (MRgFUS) thalamotomy of ventral intermediate (Vim) nucleus is useful to treat drug‐resistant tremor‐dominant Parkinson's disease (TdPD), but tremor relapse may occur. Predictors of re…
View article: Rechargeable and Nonrechargeable Implantable Pulse Generators for Deep Brain Stimulation in Parkinson’s Disease: Long‐Term Experience
Rechargeable and Nonrechargeable Implantable Pulse Generators for Deep Brain Stimulation in Parkinson’s Disease: Long‐Term Experience Open
Objectives: The study’s objective is to assess long‐term experience with rechargeable (r‐IPG) and nonrechargeable implant pulse generators (nr‐IPGs) for deep brain stimulation (DBS) in Parkinson’s disease (PD). Material and Methods: Qualit…
View article: Integrated management of atypical parkinsonism: a home-based patient-centered healthcare delivery based on telenursing—the IMPACT study protocol
Integrated management of atypical parkinsonism: a home-based patient-centered healthcare delivery based on telenursing—the IMPACT study protocol Open
Background: People with atypical parkinsonism, such as multiple system atrophy and progressive supranuclear palsy, experience a wide range of motor and non-motor symptoms associated with the increasing complexity of care delivery and the i…
View article: Miglustat as Disease‐Modifying Therapy in a Patient with <scp><i>SCARB2</i></scp>‐Related Action Myoclonus Renal Failure
Miglustat as Disease‐Modifying Therapy in a Patient with <span><i>SCARB2</i></span>‐Related Action Myoclonus Renal Failure Open
No abstract available
View article: Causative Role of the <scp><i>SLC6A1</i></scp> p.<scp>Asp451Gly</scp> Variant in a Patient with Combined Dystonia and Neurodevelopmental Disorder
Causative Role of the <span><i>SLC6A1</i></span> p.<span>Asp451Gly</span> Variant in a Patient with Combined Dystonia and Neurodevelopmental Disorder Open
View article: Quantitative Tractography‐Based Evaluations in Essential Tremor Patients after <scp>MRgFUS</scp> Thalamotomy
Quantitative Tractography‐Based Evaluations in Essential Tremor Patients after <span>MRgFUS</span> Thalamotomy Open
Background Magnetic resonance‐guided focused ultrasound (MRgFUS) targeting the thalamic ventral intermediate nucleus (VIM) is an innovative treatment for drug‐refractory essential tremor (ET). The relationship between lesion characteristic…
View article: Cognition in Patients with Spinocerebellar Ataxia 1 (SCA1) and 2 (SCA2): A Neurophysiological and Neuropsychological Approach
Cognition in Patients with Spinocerebellar Ataxia 1 (SCA1) and 2 (SCA2): A Neurophysiological and Neuropsychological Approach Open
Background/Objectives: Cognitive impairment in spinocerebellar ataxia patients has been reported since the early-disease stage. We aimed to assess cognitive differences in SCA1 and SCA2 patients. Methods: We performed neuropsychological (N…
View article: Deficiency of Glucocerebrosidase Activity beyond Gaucher Disease: PSAP and LIMP-2 Dysfunctions
Deficiency of Glucocerebrosidase Activity beyond Gaucher Disease: PSAP and LIMP-2 Dysfunctions Open
Glucocerebrosidase (GCase) is a lysosomal enzyme that catalyzes the breakdown of glucosylceramide in the presence of its activator saposin C (SapC). SapC arises from the proteolytical cleavage of prosaposin (encoded by PSAP gene), which gi…
View article: Reply to: “Heterogeneous Phenotypic Evolution in <scp><i>ANO3</i></scp>‐Related Dystonia Due to the Recurrent p.<scp>Glu510Lys</scp> Variant”
Reply to: “Heterogeneous Phenotypic Evolution in <span><i>ANO3</i></span>‐Related Dystonia Due to the Recurrent p.<span>Glu510Lys</span> Variant” Open
neurodevelopmental movement disorders, a prerequisite for improved patient care, will require further study.
View article: Focused ultrasound therapy in movement disorders: management roadmap toward optimal pathway organization
Focused ultrasound therapy in movement disorders: management roadmap toward optimal pathway organization Open
MRI-guided focused ultrasound (MRgFUS) lesioning is an innovative, safe and effective treatment which provides an innovative development in the field of minimally invasive stereotactic neurosurgery. Based on the application of focused ultr…
View article: Aceruloplasminemia: Unique Clinical and <scp>MRI</scp> Findings in a Patient with a Novel Frameshift Mutation
Aceruloplasminemia: Unique Clinical and <span>MRI</span> Findings in a Patient with a Novel Frameshift Mutation Open
Aceruloplasminemia (ACP; OMIM #604290) is a rare disorder caused by biallelic mutations of the ceruloplasmin (CP) gene, resulting in the absence of serum CP.1 CP inactivation leads to iron metabolism abnormalities with subsequent cellular …
View article: <scp><i>ANO3</i></scp> as a Cause of Early‐Onset Chorea Combined with Dystonia: Illustration of Phenotypic Evolution
<span><i>ANO3</i></span> as a Cause of Early‐Onset Chorea Combined with Dystonia: Illustration of Phenotypic Evolution Open
Here, we signpost a case of a childhood-onset chorea-dominant phenotype later evolved into a dystonia-dominant phenotype during adulthood, in a subject carrying a missense pathogenic variant (c.1528 G > A; p.Glu510Lys)1 in the anoctamin…
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: The Optimal Targeting for Focused Ultrasound Thalamotomy Differs between Dystonic and Essential Tremor: A 12‐Month Prospective Pilot Study
The Optimal Targeting for Focused Ultrasound Thalamotomy Differs between Dystonic and Essential Tremor: A 12‐Month Prospective Pilot Study Open
Background Magnetic resonance‐guided focused ultrasound (MRgFUS) thalamotomy is increasingly used to treat drug‐resistant essential tremor (ET). Data on MRgFUS thalamotomy in dystonic tremor (DT) are anecdotal. Objectives To investigate ef…
View article: A novel GNAL pathogenic variant leading to generalized dystonia: Immediate and sustained response to globus pallidus internus deep brain stimulation
A novel GNAL pathogenic variant leading to generalized dystonia: Immediate and sustained response to globus pallidus internus deep brain stimulation Open
View article: Idiopathic cervical dystonia and non-motor symptoms: a pilot case-control study on autonomic nervous system
Idiopathic cervical dystonia and non-motor symptoms: a pilot case-control study on autonomic nervous system Open
View article: Levodopa Equivalent Dose of Safinamide: A Multicenter, Longitudinal, Case–Control Study
Levodopa Equivalent Dose of Safinamide: A Multicenter, Longitudinal, Case–Control Study Open
Background Effects of dopaminergic medications used to treat Parkinson's disease (PD) may be compared with each other by using conversion factors, calculated as Levodopa equivalent dose (LED). However, current LED proposals on MAO‐B inhibi…