Luca magistrelli
@uninsubria.it
University of Insubria
Scopus Publications
- Correlations Between Clinical, Anthropometric and Nutritional Evaluations in Patients with Parkinson’s Disease from Ghana: A Cross-Sectional Study
Carlotta Bolliri, Luca Magistrelli, Francesca Del Sorbo, Anna Zecchinelli, Daniela Calandrella, et al.
Journal of Clinical Medicine, 2026
Introduction: Malnutrition and sarcopenia are commonly observed in African patients with Parkinson’s disease (PD); however, limited data exist regarding the nutritional status and body composition of PD patients in sub-Saharan Africa. This study aims to describe the clinical, nutritional, and anthropometric characteristics of PD patients from Sogakope, in the Volta Region of Ghana. Methods: A total of 20 PD patients were recruited. All participants underwent comprehensive clinical and nutritional assessments. Motor symptoms were evaluated with the Unified Parkinson’s Disease Rating Scale (UPDRS). Dealing with non-motor symptoms, constipation was diagnosed according to the Roma III Criteria while dysphagia was assessed using the Swallowing Disturbance Questionnaire. The presence and impact of sialorrhea was determined using the Sialorrhea Clinical Scale. Nutritional assessment was performed with the Mini Nutritional Assessment short form (MNA-sf). Body composition parameters were measured using Bioelectrical Impedance Analysis (BIA), and muscle strength was evaluated with the Handgrip Strength Test. Correlations were assessed by Pearson or Spearman correlation analysis, as appropriate. Partial correlation analysis controlling for significant clinical variables was also performed. Results: Daily caloric intake was significantly lower compared to Western populations and was associated with a reduced body mass index (BMI) and body fat percentage. Constipation (80%) and sarcopenia (45%) were highly prevalent, whereas dysphagia was reported in only 15% of participants. Over 75% of patients were at risk of malnutrition. A significant inverse correlation was found between thigh circumference and disease duration (r = −0.517; p = 0.02). Additionally, protein intake (g/kg/day) was inversely correlated with motor symptom severity, as measured by the UPDRS Part III in the ON state (r = −0.544; p = 0.02). Conclusions: This study demonstrates a high prevalence of nutritional deficiencies, sarcopenia, and altered body composition in Ghanaian PD patients. These nutritional impairments are significantly associated with disease duration and motor symptom severity. The findings highlight the urgent need for early nutritional screening and intervention as part of a multidisciplinary approach to Parkinson’s disease management in resource-limited settings. - Early-onset Parkinsonism and cognitive delay: think about PPP2R5D
Simona Cascino, Giorgio Sacilotto, Mariarosa Ferrara, Silvia Tabano, Gianni Pezzoli, et al.
Neurological Sciences, 2026 - The relationship between occupation and specific forms of idiopathic adult-onset dystonia
Vittorio Velucci, Luigi Di Lorenzo, Roberto Erro, Ilaria Maria Di Somma, Marcello Esposito, et al.
Neurological Sciences, 2025 - The Spectrum of Neurologic Phenotypes Associated With NUS1 Pathogenic Variants: A Comprehensive Case Series
Sarah M. Brooker, Maria Novelli, Robert Coukos, Neha Prakash, Walaa A. Kamel, et al.
Annals of Neurology, 2025
ObjectiveA growing body of evidence indicates a strong genetic overlap between developmental and epileptic encephalopathies (DEEs) and movement disorders. De novo loss‐of‐function variants in NUS1 have been recently identified in DEE cases. Herein, we report a large cohort of cases with pathogenic NUS1 variants and describe their clinical presentation and the details of the associated epilepsy and movement disorders.MethodsCases with NUS1‐related disorders were identified through a multicentric international collaboration made possible by the GeneMatcher platform. Clinical data were acquired through retrospective case‐note review.ResultsWe identified 41 subjects carrying 38 different pathogenic or likely pathogenic heterozygous NUS1 variants. The majority of cases displayed developmental delays and intellectual disability of variable severity. Epilepsy was present in 68.3% of cases (28/41) with onset typically in early childhood. Strikingly, 87.8% of cases (36/41) presented with movement disorders and for 13 of these cases the movement disorder was not accompanied by epilepsy. The phenomenology of the movement disorders was complex with myoclonus observed in 68.3% of cases (28/41), either in isolation or in combination with dystonia, ataxia, and/or parkinsonism. Seven cases that otherwise did not have prominent movement disorders had mild incoordination and intention tremor, suggestive of cerebellar dysfunction. There was no observed genotype–phenotype correlation, suggesting that other genetic or acquired factors impact the clinical presentation.InterpretationHeterozygous NUS1 pathogenic variants cause a complex neurological disorder, variably featuring developmental and epileptic encephalopathies and a broad spectrum of movement disorders, which represent the major source of neurological disability for most cases. ANN NEUROL 2025 - Effects of GBA1 Variants in Patients With Parkinson's Disease and Levodopa–Carbidopa Intestinal Gel: A Nation-Wide, Multicenter, Longitudinal, “Real-World” Study. The EPIC Study
Roberto Cilia, Fabiana Colucci, Emanuele Cereda, Antonio E. Elia, Valentina Leta, et al.
European Journal of Neurology, 2025
BackgroundThe outcome of levodopa/carbidopa intestinal gel (LCIG) in Parkinson's disease carriers of GBA1 mutations (GBA‐PD) remains uncertain.ObjectiveTo evaluate the safety and efficacy of LCIG in a large PD cohort, focusing on GBA1 variants.MethodsThis multicenter, retrospective, longitudinal “real‐world” study included consecutive patients with advanced PD treated with LCIG at 31 Italian centers; data were collected at baseline, 1‐, 5‐year, and last‐available follow‐up.ResultsData from 512 PD patients (59% male, mean age and disease duration at LCIG initiation 67.0 ± 8.0 and 12.9 ± 5.0 years, respectively) were analyzed. GBA1 genotyping was available for 306 patients (60%), of whom 40 (13%) had GBA1 mutations or risk variants. Mean follow‐up on LCIG was 3.9 ± 2.9 years; 5‐year follow‐up data were available for 159 subjects. At baseline, GBA‐PD had a younger age, shorter PD duration, worse cognition, and more hallucinations than noncarriers. At 1‐ and 5‐year follow‐up, LCIG improved motor and non‐motor symptoms, OFF‐time, and dyskinesias in the entire population. In GBA‐PD, MDS‐UPDRS parts I, II, and III scores did not change, while part IV score improved significantly less than in noncarriers; cognition and orthostatic hypotension symptoms worsened more rapidly. Multivariate analysis of predictors for adverse events and LCIG discontinuation found no significant contribution from GBA1 mutation status.ConclusionsGBA1 status does not increase the risk of adverse events or LCIG discontinuation. LCIG is a safe option for advanced GBA‐PD, even in patients with cognitive impairment at baseline. However, GBA‐PD experiences lower efficacy on motor disability and complications and faster cognitive decline than noncarriers. - Phenotypic comparison between combined dystonia-parkinsonism and idiopathic adult-onset dystonia
Sarah Idrissi, Roberto Erro, Marcello Mario Mascia, Assunta Trinchillo, Marcello Esposito, et al.
Journal of Neural Transmission, 2025 - The RAB32 p.Ser71Arg Variant in Parkinsonisms: Insights from a Large Italian Cohort
Luca Magistrelli, Marta Brumana, Valeria Rimoldi, Sofia Poggi‐Longostrevi, Elena Contaldi, et al.
Movement Disorders, 2025
Background and ObjectiveRecently, RAB32 has been identified as possibly linked to Parkinson's disease. We studied the prevalence and clinical correlates of the p.Ser71Arg variant in the RAB32 gene in a large case series of Italian patients with Parkinson's disease or atypical parkinsonism.MethodsA single‐center cohort with a case‐control component (consecutively collected at the Parkinson Institute of Milan between 2002 and 2023) was screened for the RAB32 p.Ser71Arg variant. Detailed clinical characteristics of carriers were reviewed. Healthy control subjects were partners or unrelated caregivers. The variant was detected by a TaqMan polymerase chain reaction assay.ResultsA total of 4600 patients (3762 with PD and 838 with atypical parkinsonisms) and 1722 healthy control subjects were consecutively included in the study. We identified 20 new variant carriers that, together with the 8 previously identified, had younger age at onset than noncarriers (51.0 ± 10.7 vs. 58.3 ± 11.0 years, respectively; P = 0.01). All carriers had a good response to dopaminergic therapy and device‐aided therapies. Carriers had mild or no cognitive decline and mild or no depressive symptoms; six had impulse control disorders and one a REM behavior disorder. Family history was positive in 55.5% of cases versus 22.0% of patients without the variant (P < 0.001) and was compatible with a dominant pattern of inheritance. The variant was not identified in patients with atypical parkinsonisms.ConclusionsThis study confirms that RAB32 is associated with a relatively young adult‐onset PD with a favorable therapeutic response. This variant should be included in genetic panels used for the diagnosis of familial and/or relatively young‐onset PD. © 2024 The Author(s). Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society. - Clinical trial eligibility in PSP: Population representativeness and potential criteria adjustment based on PSP-NET findings
Filomena Abate, Francesca Di Biasio, Roberta Marchese, Tiziana Benzi Markushi, Andrea Ciammola, et al.
Parkinsonism and Related Disorders, 2025 - Myoclonus-Dystonia plus Syndrome in a Patient Carrying a Novel TCF20 Variant
Luca Magistrelli, Elena Contaldi, Sandra D'Alfonso, Lucia Corrado
Movement Disorders Clinical Practice, 2025 - Parkinson's Disease with a Novel OPA1 Mutation Successfully Treated with Deep Brain Stimulation
Fabrizio Luiso, Laura Caffi, Simona Cascino, Elena Contaldi, Luca Magistrelli, et al.
Movement Disorders Clinical Practice, 2025 - A Novel GBF1 Variant in a Charcot-Marie-Tooth Type 2: Insights from Familial Analysis
Valentina Ciampana, Lucia Corrado, Luca Magistrelli, Elena Contaldi, Cristoforo Comi, et al.
Genes, 2024 - A Short Progressive Supranuclear Palsy Quality of Life Scale: Data from the PSP-NET
Arianna Cappiello, Paolo Barone, Marina Picillo, and
Movement Disorders, 2024 - The Impact of Probiotics on Clinical Symptoms and Peripheral Cytokines Levels in Parkinson’s Disease: Preliminary In Vivo Data
Luca Magistrelli, Elena Contaldi, Annalisa Visciglia, Giovanni Deusebio, Marco Pane, et al.
Brain Sciences, 2024 - Family History in Parkinson's Disease: A National Cross-Sectional Study
Federica Arienti, Giovanni Casazza, Giulia Franco, Giulia Lazzeri, Edoardo Monfrini, et al.
Movement Disorders Clinical Practice, 2024 - Pediatric Onset of Generalized Dystonia, Cognitive Impairment, and Dysmorphic Features in a Patient Carrying Compound Heterozygous GNAL Mutations
Luca Magistrelli, Elena Contaldi, Beatrice Piola, Fjorilda Caushi, Miryam Carecchio, et al.
Movement Disorders Clinical Practice, 2024 - Multidisciplinary care use in neurodegenerative complex diseases: The example of progressive supranuclear palsy and advanced Parkinson's disease in real-life
Margherita Fabbri, Claudia Ledda, Tommaso Schirinzi, Carlo Alberto Artusi, Anna Rosa Avallone, et al.
Parkinsonism and Related Disorders, 2024 - Does sex influence the natural history of idiopathic adult-onset dystonia?
Vittorio Velucci, Sarah Idrissi, Roberta Pellicciari, Marcello Esposito, Assunta Trinchillo, et al.
Journal of Neurology Neurosurgery and Psychiatry, 2024 - Parkinsonism in SCA19/22: Dopamine Transporter Imaging in an Italian Family Harboring a Novel Mutation
Elena Contaldi, Silvia Gallo, Lucia Corrado, Sandra D’Alfonso, Luca Magistrelli
Cerebellum, 2024 - Comparing Essential Tremor with and without Soft Dystonic Signs and Tremor Combined with Dystonia: The TITAN Study
Roberto Erro, Giulia Lazzeri, Carmen Terranova, Giulia Paparella, Angelo Fabio Gigante, et al.
Movement Disorders Clinical Practice, 2024 - Does thyroid diseases contribute to the natural history of idiopathic adult-onset dystonia? Data from the Italian Dystonia Registry
Sarah Idrissi, Vittorio Velucci, Marcello Esposito, Assunta Trinchillo, Francesco Habestwallner, et al.
Journal of Neural Transmission, 2024 - Menstrual-Related Fluctuations in a Juvenile-Onset Parkinson's Disease Patient Treated with STN-DBS: Correlation with Local Field Potentials
Elena Contaldi, Gaetano Leogrande, Riccardo Fornaro, Cristoforo Comi, Luca Magistrelli
Movement Disorders Clinical Practice, 2024 - Parkinson's disease and chronic inflammatory demyelinating polyneuropathy: Broadening the clinical spectrum of VCP mutations
Silvia Gallo, Francesca Vignaroli, Elena Contaldi, Domizia Vecchio, Lucia Corrado, et al.
Parkinsonism and Related Disorders, 2024 - The PROB-PD trial: a pilot, randomised, placebo-controlled study protocol to evaluate the feasibility and potential efficacy of probiotics in modulating peripheral immunity in subjects with Parkinson’s disease
Stefano Martini, Franca Marino, Luca Magistrelli, Elena Contaldi, Marco Cosentino, et al.
Pilot and Feasibility Studies, 2023 - A case of early-onset Parkinson’s disease in a patient with KBG syndrome
Luca Magistrelli, Elena Contaldi, Fjorilda Caushi, Alice Spano, Roberto Cantello, et al.
Neurological Sciences, 2023 - Do cerebrovascular risk factors impact the clinical expression of idiopathic isolated adult-onset dystonia?
Marcello Mario Mascia, Daniele Belvisi, Marcello Esposito, Roberta Pellicciari, Assunta Trinchillo, et al.
Parkinsonism and Related Disorders, 2023
