Deep Phenotyping of F64L Mutation in a Multicentric Cohort of Patisiran-Treated Hereditary Transthyretin Amyloidosis Patients (Patisiranitaly) Marco Ceccanti, Pietro Guaraldi, Angela Romano, Giovanni Antonini, Alessandro Barilaro, et al. European Journal of Neurology, 2026 Background The F64L variant is among the most frequent TTR mutations in Italy, typically associated with a predominantly neurologic phenotype and limited cardiac involvement. Methods Data from 181 ATTRv patients in the multicenter Patisiranitaly database treated with Patisiran since 2020 were analyzed. Neurologic impairment scores, Norfolk QoL‐DN, and cardiac parameters were compared between F64L ( n = 56), V30M ( n = 37), and non‐F64L ( n = 125) patients at baseline and during follow‐up. Cluster analysis was applied to identify patient subgroups based on these variables. Results F64L represented 30.9% of the cohort. Compared to non‐F64L patients, F64L patients had a higher prevalence of neurologic onset and neurologic phenotype, a thinner interventricular septum, and lower NT‐proBNP levels. Cluster analysis segregated patients into two distinct groups, predominantly reflecting F64L vs. non‐F64L status and corresponding neurologic severity. F64L patients showed milder cardiac involvement compared to V30M patients. Longitudinal repeated‐measures ANOVA showed stable clinical and instrumental measures. Conclusions F64L is characterized by predominant neurologic involvement and milder cardiac involvement in this Patisiran‐treated cohort. Mutation‐specific diagnostic and follow‐up strategies are essential to capture its natural history and treatment response.
Nerve Ultrasound in Pediatric Polyneuropathies: A Systematic Review Simona Maccora, Vincenzo Di Stefano, Filippo Brighina, Sabrina Sacconi, Angela Puma Neuropediatrics, 2026 The diagnosis of peripheral polyneuropathy in children and the differential diagnosis among its various forms often present a challenge, also because electrodiagnostic studies can be painful and sometimes yield inconclusive results. This systematic review examines the role of nerve ultrasound (n-US) in the diagnosis and follow-up of pediatric polyneuropathies. We searched PubMed and Embase from 1975 to April 1, 2025. Included studies assessed patients aged ≤ 18 years with clinically and neurophysiologically confirmed polyneuropathy, providing pediatric-specific qualitative or quantitative n-US findings. Eighteen studies met the inclusion criteria. Six focused on acquired inflammatory polyneuropathies (three on Guillain–Barré Syndrome [GBS], three on Chronic Inflammatory Demyelinating Polyneuropathy [CIDP]), eight on Charcot–Marie–Tooth disease (CMT), two on lysosomal storage disorders, one on Autosomal Recessive Spastic Ataxia of Charlevoix–Saguenay (ARSACS), and one on mixed etiologies. Most (n = 7) were case reports. Cross-sectional area and nerve enlargement (NE) distribution were the main parameters evaluated. Marked, diffuse NE was found in demyelinating CMT and lysosomal disorders; CIDP showed diffuse and multifocal NE; GBS presented mild and proximal NE. No NE was reported in axonal CMT or ARSACS. Few studies assessed echogenicity or fascicular structure; none evaluated vascularization. n-US shows promise in differentiating demyelinating conditions such as CMT, CIDP, GBS, and certain metabolic syndromes in children. However, further age-matched control studies are needed, given that nerve growth and myelination peak between 15 and 17 years. Future research should explore n-US as an early diagnostic, screening, and follow-up tool.
Physical Exercise in Myasthenia Gravis: A Systematic Review Claudia Vinciguerra, Ignazio Leale, Nicasio Rini, Fabio Tiziano Orlando, Liliana Bevilacqua, et al. Healthcare Switzerland, 2026 Background: Myasthenia gravis (MG) is a chronic autoimmune disorder characterized by fluctuating skeletal muscle weakness and fatigue, leading to reduced functional independence and impaired quality of life (QoL). Although exercise has historically been discouraged due to concerns about symptom exacerbation, emerging evidence suggest that structured exercise programs may be safe and beneficial in clinically stable patients. This systematic review critically evaluates current evidence on exercise and physical activity interventions in MG, focusing on effectiveness, safety, and impact on functional outcomes, fatigue, and QoL. Materials and Methods: A systematic review was conducted following PRISMA guidelines. Searches were performed in PubMed, Web of Science, Google Scholar, Scopus and ScienceDirect for studies published between 2015 and 2025. Keywords included MG, physical activity, aerobic training, resistance training, and respiratory muscle training. Methodological quality was assessed using the Downs and Black checklist. Results: Eight controlled studies met the inclusion criteria, encompassing aerobic, resistance, combined, and respiratory muscle training interventions. Sample sizes ranged from small pilot studies to moderate-size randomized controlled trials. Overall, exercise interventions were well tolerated, with no evidence of sustained symptoms exacerbation. Aerobic and combined programs consistently improved functional capacity, muscle strength, and activities of daily living. Respiratory muscle training demonstrated improvements in pulmonary function and inspiratory muscle strength, although findings were more heterogeneous. Study quality ranged from poor to excellent, with common limitations including small sample size, short follow-up duration, and heterogeneity in exercise programs. Conclusions: Current evidence supports the safety and potential efficacy of individualized, symptom-guided exercise interventions in clinically stable MG. Regular physical activity exercise may reduce secondary deconditioning, improve functional outcomes, and enhance QoL. However, larger, high-quality randomized controlled trials with standardized programs and longer follow-up periods are required to strengthen clinical recommendations and clarify long-term effects.
Sex differences in neuromuscular disorders Claudia Vinciguerra, Salvatore Iacono, Liliana Bevilacqua, Annamaria Landolfi, Giuseppe Piscosquito, et al. Mechanisms of Ageing and Development, 2023
Migraine and handedness Giovanni Battista La Pegna, Giuseppe Quatrosi, Luigi Vetri, Federica Reina, Cristina Galati, et al. Neurological Sciences, 2021
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Migraine as a Cortical Brain Disorder Piero Barbanti, Filippo Brighina, Gabriella Egeo, Vincenzo Di Stefano, Marcello Silvestro, et al. Headache, 2020
T helper 1 response is correlated with widespread pain, fatigue, sleeping disorders and the quality of life in patients with fibromyalgia and is modulated by hyperbaric oxygen therapy Clinical and Experimental Rheumatology, 2019
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