Neurological and neuropsychological correlates of Klippel-Feil syndrome Sara Melchiorre, Mirella Russo, Matteo Santilli, Gaetano Polito, Consuelo Ciprietti, et al. Neurological Sciences, 2025 Background Klippel-Feil syndrome is a rare congenital malformation caused by fusions of cervical vertebrae. In 50% of these patients, a triad of short neck, limited neck motion, and low posterior hairline characterizes the clinical presentation. In KFS, neurological deficits are common due to cervical canal stenosis and other deformities involving basicranial structures. Other congenital anomalies are also associated with the syndrome. Case presentation Our case describes a particular case of KFS, showing a disconnection between a severe involvement of the cervical-occipital structures indicated by magnetic resonance imaging and a mild clinical presentation. Moreover, a slight visual-spatial deficit was found in neuropsychological tests. No prior association between KFS and visuospatial impairment has been reported. Discussion and conclusions GDF6, a gene associated with KFS, plays a role in retinotectal mapping, which organizes visual stimuli in the brain. Early neurodevelopment abnormalities, such as atlanto-occipital anomalies in KFS, might affect related brain structures, which could explain the patient’s impaired visuospatial function. In addition, compensatory neuroplasticity underscores how the brain may adapt to congenital defects, even severe ones.
Exploring the long-term effects of COVID-19 in patients with epilepsy: A multicenter Italian observational study Fedele Dono, Mirella Russo, Giacomo Evangelista, Clarissa Corniello, Claudio Liguori, et al. Epilepsia Open, 2025 ObjectiveCoronavirus disease‐19 (COVID‐19), caused by SARS‐CoV‐2, has led to a global pandemic since December 2019. People with epilepsy (PwE) face higher risks of severe COVID‐19 outcomes and may be more vulnerable to long‐term neurological and psychiatric effects.MethodsThis multicenter, retrospective cohort study reviewed medical records of PwE with confirmed SARS‐CoV‐2 infection (COVID+) from four Italian hospitals (March 2020–December 2021). A control group (COVID−) included age‐ and sex‐matched PwE without infection. Demographics, epilepsy features, COVID‐19 severity, and neurological/psychiatric outcomes were assessed at baseline and at 6 and 12 months. Statistical analyses included regression and linear mixed model (LMM).ResultsAmong 130 patients (38 COVID+, 92 COVID−), no baseline differences were found in demographics, epilepsy characteristics, or comorbidities. At 6 months, the COVID+ group showed increased seizure frequency (p = 0.03) and higher rates of psychiatric (p < 0.01) and neurological symptoms (p < 0.01), requiring specific treatment (p = 0.01). At 12 months, psychiatric and neurological disorders persisted (p < 0.01), with more treated neurological symptoms (p < 0.01). LMM analysis found no significant seizure frequency differences over time (p = 0.47), but focal‐to‐bilateral tonic–clonic seizures showed a time‐dependent interaction (p = 0.025).SignificanceSARS‐CoV‐2 infection has lasting neurological and psychiatric effects in PwE. While acute seizure frequency changes are transient, cognitive impairment, insomnia, and depression persist, underscoring the need for continuous monitoring and personalized care.Plain Language SummaryThis study investigated long‐term neurological and psychiatric outcomes in people with epilepsy (PwE) after COVID‐19 infection. We compared 38 PwE with confirmed SARS‐CoV‐2 infection to 92 uninfected controls, matched by age and sex. At 6 months, infected patients showed increased seizure frequency and more psychiatric and neurological symptoms, often requiring treatment. At 12 months, seizure frequency stabilized, but cognitive issues, depression, and insomnia persisted. These findings highlight that while seizure changes may be temporary, COVID‐19 has lasting neuropsychiatric effects in PwE, emphasizing the importance of long‐term monitoring and individualized therapeutic strategies.
Understanding barriers and optimizing socio-cognitive assessment in the diagnosis of neurocognitive disorders Chiara Cerami, Marina Boccardi, Claudia Meli, Andrea Panzavolta, Giulia Funghi, et al. Journal of Neuropsychology, 2025 Harmonized neuropsychological assessment for neurocognitive disorders (NCDs) is an urgent priority in clinics. Neuropsychology assessments in NCDs seldom include tests exploring social cognitive skills. In 2022, we launched the SIGNATURE initiative to optimize socio‐cognitive assessment in NCDs. Here, we report findings from the first initiative phase, including consortium creation and evaluation of the state of the art in socio‐cognitive assessment in memory clinics. We developed an ad hoc online survey to explore practices and measures, relevance, and obstacles preventing the use of socio‐cognitive testing in clinics. The survey was distributed within the SIGNATURE network. National coordinators were identified to disseminate the survey to local collaborators and scientific societies active in the field of dementia and/or neuropsychology. Data were analysed in aggregate form and stratified by geographical area and variables of interest. Four hundred and thirteen (413) responses from 10 European and Latin American geographical regions were recorded. Responders were balanced between physicians and psychologists. Seventy‐eight (78) % of respondents reported no/limited experience with socio‐cognitive measures; more than 85% agreed on their relevance in clinics. Ekman‐60 faces was the most well‐known and/or used task, followed by the Faux‐Pas and Reading‐the‐Mind‐in‐the‐Eyes tests. Lack of clinical measures, assessment time, guidelines, and education/training were reported as main obstacles. Real‐life barriers prevent the adoption of socio‐cognitive testing in clinics. Bidirectional collaboration between clinicians and researchers is required to address clinical needs and constraints and facilitate consistent socio‐cognitive assessment.
Development of a diagnostic checklist to identify functional cognitive disorder versus other neurocognitive disorders Verónica Cabreira, Jane Alty, Sonja Antic, Rui Araujo, Selma Aybek, et al. BMJ Neurology Open, 2025 BackgroundFunctional cognitive disorder (FCD) poses a diagnostic challenge due to its resemblance to other neurocognitive disorders and limited biomarker accuracy. We aimed to develop a new diagnostic checklist to identify FCD versus other neurocognitive disorders.MethodsThe clinical checklist was developed through mixed methods: (1) a literature review, (2) a three-round Delphi study with 45 clinicians from 12 countries and (3) a pilot discriminative accuracy study in consecutive patients attending seven memory services across the UK. Items gathering consensus were incorporated into a pilot checklist. Item redundancy was evaluated with phi coefficients. A briefer checklist was produced by removing items with >10% missing data. Internal validity was tested using Cronbach’s alpha. Optimal cut-off scores were determined using receiver operating characteristic curve analysis.ResultsA full 11-item checklist and a 7-item briefer checklist were produced. Overall, 239 patients (143 FCD, 96 non-FCD diagnoses) were included. The checklist scores were significantly different across subgroups (FCD and other neurocognitive disorders) (F(2, 236)=313.3, p<0.001). The area under the curve was excellent for both the full checklist (0.97, 95% CI 0.95 to 0.99) and its brief version (0.96, 95% CI 0.93 to 0.98). Optimal cut-off scores corresponded to a specificity of 97% and positive predictive value of 91% for identifying FCD. Both versions showed good internal validity (>0.80).ConclusionsThis pilot study shows that a brief clinical checklist may serve as a quick complementary tool to differentiate patients with neurodegeneration from those with FCD. Prospective blind large-scale validation in diverse populations is warranted.Cite Now
Early Cenobamate as a Third-Line Option in Drug-Resistant Focal Epilepsy: A Paradigm Shift? F Dono, M Russo, R Agosto, G Evangelista, B Nucera, G Falcicchio, ... Neurology and Therapy 15 (3), 1191-1205 , 2026 2026
International consensus for the assessment of social cognition in neurocognitive disorders: framework definition and clinical recommendations of the SIGNATURE initiative A Dodich, A Panzavolta, G Funghi, C Meli, C Festari, T Chatzikostopoulos, ... Alzheimer's Research & Therapy , 2025 2025 Citations: 3
Exploring the long-term effects of COVID-19 in patients with epilepsy: a multicenter Italian observational study C Corniello, F Dono, M Russo, G Evangelista, C Liguori, C Calvello, ... EPILEPSIA 66, S295-S295 , 2025 2025
A Bayesian reappraisal of disease-modifying candidates for Parkinson's disease L Salvatorelli, M Russo, T Costa, D Calisi, G Polito, S Melchiorre, ... Journal of the Neurological Sciences 480 , 2025 2025
Angiotensin receptor blockers (ARBs) reduce the risk of developing epilepsy in patients with ischemic stroke and hypertension F Dono, G Evangelista, S Melchiorre, C Corniello, D Liviello, P Quintieri, ... Journal of the Neurological Sciences 480 , 2025 2025
Predicting conversion in cognitively normal and mild cognitive impairment individuals with machine learning: Is the CSF status still relevant? S Melchiorre, M Russo, D Nardini, C Ciprietti, G Polito, M Punzi, F Dono, ... Journal of the Neurological Sciences 480 , 2025 2025
Neurological and neuropsychological correlates of Klippel-Feil syndrome S Melchiorre, M Russo, M Santilli, G Polito, C Ciprietti, D Calisi, V Panara, ... Neurological Sciences 46 (11), 6047-6051 , 2025 2025
Psychedelics and ketamine/esketamine in depressive disorders: biological mechanisms and associated neuroimaging and clinical changes G d’Andrea, S Chiappini, L Ciavoni, R Tucci, F Martino, FM Semeraro, ... Translational Psychiatry 15 (1), 453 , 2025 2025 Citations: 8
Exploring the long‐term effects of COVID‐19 in patients with epilepsy: A multicenter Italian observational study F Dono, M Russo, G Evangelista, C Corniello, C Liguori, C Calvello, ... Epilepsia Open 10 (5), 1450-1461 , 2025 2025 Citations: 1
Angiotensin receptor blockers (ARBs) reduce the risk of developing epilepsy in patients with ischemic stroke and hypertension G Evangelista, F Dono, S Melchiorre, C Corniello, D Liviello, P Quintieri, ... Seizure: European Journal of Epilepsy , 2025 2025 Citations: 2
Understanding barriers and optimizing socio‐cognitive assessment in the diagnosis of neurocognitive disorders C Cerami, M Boccardi, C Meli, A Panzavolta, G Funghi, C Festari, ... Journal of neuropsychology 19 (3), 603-618 , 2025 2025 Citations: 14
Development of a diagnostic checklist to identify functional cognitive disorder versus other neurocognitive disorders V Cabreira, J Alty, S Antic, R Araujo, S Aybek, HA Ball, G Baslet, R Bhome, ... BMJ Neurology Open 7 (1), e000918 , 2025 2025 Citations: 13
Predicting conversion in cognitively normal and mild cognitive impairment individuals with machine learning: Is the CSF status still relevant? M Russo, D Nardini, S Melchiorre, C Ciprietti, G Polito, M Punzi, F Dono, ... Alzheimer's & Dementia 21 (2), e14398 , 2025 2025 Citations: 5
Neurological management of ischemic stroke in sickle cell disease–a case report with an updated review of the literature C Ciprietti, M Russo, M Santilli, S Melchiorre, G Polito, A Thomas, ... Neurological Sciences 46 (2), 993-998 , 2025 2025 Citations: 1
Prasinezumab: A Bayesian Perspective on Its Efficacy M Russo, T Costa, D Calisi, SL Sensi Movement Disorders 40 (4), 619 , 2025 2025 Citations: 1
Time to add two new disorders to neuropsychiatric aspects of Parkinson’s disease SL Sensi, MA De Rosa, M Russo, A Thomas, M Onofrj Clinical Parkinsonism & Related Disorders 13, 100358 , 2025 2025
Perspectives on the diagnosis and management of functional cognitive disorder: An international Delphi study V Cabreira, J Alty, S Antic, R Araújo, S Aybek, HA Ball, G Baslet, R Bhome, ... European Journal of Neurology 32 (1), e16318 , 2025 2025 Citations: 15
Psychiatric Disorders and Cognitive Fluctuations in Parkinson’s Disease: Changing Approaches in the First Decades of the 21st Century M Onofrj, MA De Rosa, M Russo, P Ajdinaj, D Calisi, A Thomas, SL Sensi Brain Sciences 14 (12), 1233 , 2024 2024 Citations: 1
Dancing sugar! A case of epilepsia partialis continua and subsequent belly dancing syndrome in a patient with a hyperosmolar hyperglycemic state. D Liviello, S Cipollone, C Corniello, G Evangelista, L Marzetti, M Russo, ... Epileptic Disorders 26 (4) , 2024 2024
Circulatory shock associated with left insular stroke and chronic steroid treatment M Russo, F Dono, M Onofrj, SL Sensi European Journal of Neurology 31 (5), e16225 , 2024 2024 Citations: 1
MOST CITED SCHOLAR PUBLICATIONS
Behavioral and psychological effects of coronavirus disease-19 quarantine in patients with dementia A Cagnin, R Di Lorenzo, C Marra, L Bonanni, C Cupidi, V Laganà, ... Frontiers in psychiatry, 916 , 2020 2020 Citations: 254
Agitation and Dementia: Prevention and Treatment Strategies in Acute and Chronic Conditions C Carrarini, M Russo, F Dono, F Barbone, MG Rispoli, L Ferri, M Di Pietro, ... Frontiers in Neurology 12, 480 , 2021 2021 Citations: 191
The impact of COVID-19 quarantine on patients with dementia and family caregivers: a nation-wide survey I Rainero, AC Bruni, C Marra, A Cagnin, L Bonanni, C Cupidi, V Laganà, ... Frontiers in aging neuroscience 12, 507 , 2021 2021 Citations: 162
Psychogenic non-epileptic seizures and pseudo-refractory epilepsy, a management challenge F Anzellotti, F Dono, G Evangelista, M Di Pietro, C Carrarini, M Russo, ... Frontiers in neurology 11, 461 , 2020 2020 Citations: 101
Association of Plasma p-tau181 and p-tau231 Concentrations With Cognitive Decline in Patients With Probable Dementia With Lewy Bodies MC Gonzalez, NJ Ashton, BF Gomes, DA Tovar-Rios, F Blanc, TK Karikari, ... JAMA neurology , 2021 2021 Citations: 100
Being the Family Caregiver of a Patient With Dementia During the Coronavirus Disease 2019 Lockdown M Zucca, V Isella, RD Lorenzo, C Marra, A Cagnin, C Cupidi, L Bonanni, ... Frontiers in Aging Neuroscience 13, 132 , 2021 2021 Citations: 85
Status epilepticus and COVID-19: A systematic review F Dono, B Nucera, J Lanzone, G Evangelista, F Rinaldi, R Speranza, ... Epilepsy & Behavior 118, 107887 , 2021 2021 Citations: 82
A stage-based approach to therapy in Parkinson’s Disease C Carrarini, M Russo, F Dono, M Di Pietro, MG Rispoli, V Di Stefano, ... Biomolecules 9 (8), 388 , 2019 2019 Citations: 68
Comparison of Machine Learning-based Approaches to Predict the Conversion to Alzheimer’s Disease from Mild Cognitive Impairment R Franciotti, D Nardini, M Russo, M Onofrj, SL Sensi, ... Neuroscience 514, 143-152 , 2023 2023 Citations: 66
The pharmacology of visual hallucinations in synucleinopathies M Russo, C Carrarini, F Dono, MG Rispoli, M Di Pietro, V Di Stefano, ... Frontiers in Pharmacology, 1379 , 2019 2019 Citations: 61
Plasma Neurofilament Light Chain predicts cognitive progression in prodromal and clinical dementia with Lewy Bodies A Pilotto, A Imarisio, C Carrarini, M Russo, S Masciocchi, S Gipponi, ... Journal of Alzheimer's Disease 82 (3), 913-919 , 2021 2021 Citations: 53
Cognitive dysfunction in amyotrophic lateral sclerosis: can we predict it? F De Marchi, C Carrarini, A De Martino, L Diamanti, A Fasano, A Lupica, ... Neurological Sciences 42 (6), 2211-2222 , 2021 2021 Citations: 48
New-onset refractory status epilepticus (NORSE) in post SARS-CoV-2 autoimmune encephalitis: a case report F Dono, C Carrarini, M Russo, MV De Angelis, F Anzellotti, M Onofrj, ... Neurological Sciences 42 (1), 35-38 , 2021 2021 Citations: 48
New daily persistent headache after SARS-CoV-2 infection: a report of two cases F Dono, S Consoli, G Evangelista, M D’Apolito, M Russo, C Carrarini, ... Neurological Sciences 42 (10), 3965-3968 , 2021 2021 Citations: 47
Clinical presentation of strokes confined to the insula: a systematic review of literature V Di Stefano, MV De Angelis, C Montemitro, M Russo, C Carrarini, ... Neurological Sciences 42 (5), 1697-1704 , 2021 2021 Citations: 44
Hyperconnectivity in dementia is early and focal and wanes with progression L Bonanni, D Moretti, A Benussi, L Ferri, M Russo, C Carrarini, F Barbone, ... Cerebral Cortex 31 (1), 97-105 , 2021 2021 Citations: 44
The central role of the Thalamus in psychosis, lessons from neurodegenerative diseases and psychedelics SLS Marco Onofrj, Mirella Russo, Stefano Delli Pizzi, Danilo De Gregorio ... Translational Psychiatry 13 , 2023 2023 Citations: 39
Interictal heart rate variability analysis reveals lateralization of cardiac autonomic control in temporal lobe epilepsy F Dono, G Evangelista, V Frazzini, C Vollono, C Carrarini, M Russo, ... Frontiers in neurology 11, 842 , 2020 2020 Citations: 35
Diaphragmatic myoclonus due to SARS-CoV-2 infection B Borroni, S Gazzina, F Dono, V Mazzoleni, P Liberini, C Carrarini, ... Neurological Sciences 41 (12), 3471-3474 , 2020 2020 Citations: 31
COVID-19 and first manic episodes: a systematic review M Russo, D Calisi, MA De Rosa, G Evangelista, S Consoli, F Dono, ... Psychiatry Research 314, 114677 , 2022 2022 Citations: 29