Pub Date : 2026-01-09DOI: 10.1007/s10072-025-08764-w
Gabriele Imbalzano, Claudia Ledda, Giovanni Morana, Leonardo Lopiano, Marco Bozzali
{"title":"When perinatal injury is not the answer: A case report of late diagnosis of A TUBB3-related tubulinopathy.","authors":"Gabriele Imbalzano, Claudia Ledda, Giovanni Morana, Leonardo Lopiano, Marco Bozzali","doi":"10.1007/s10072-025-08764-w","DOIUrl":"https://doi.org/10.1007/s10072-025-08764-w","url":null,"abstract":"","PeriodicalId":19191,"journal":{"name":"Neurological Sciences","volume":"47 1","pages":"129"},"PeriodicalIF":2.4,"publicationDate":"2026-01-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145934496","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2026-01-09DOI: 10.1007/s10072-025-08783-7
Agnieszka Antos, Tomasz Litwin, Jan Paweł Bembenek
{"title":"Letter to the editor concerning \"Wilson disease: time frame for improvement of neurological symptomology may exceed a decade\".","authors":"Agnieszka Antos, Tomasz Litwin, Jan Paweł Bembenek","doi":"10.1007/s10072-025-08783-7","DOIUrl":"https://doi.org/10.1007/s10072-025-08783-7","url":null,"abstract":"","PeriodicalId":19191,"journal":{"name":"Neurological Sciences","volume":"47 1","pages":"131"},"PeriodicalIF":2.4,"publicationDate":"2026-01-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145945302","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2026-01-08DOI: 10.1007/s10072-025-08684-9
Isabel Ros-González, Carmen Lage, Carmen Montes-Gaisan, José María Gómez-Ortega, Sara López-García, Francisco Martínez-Dubarbie, Ana Pozueta-Cantudo, María García-Martínez, Andrea Corrales-Pardo, Eva Ruiz-Pérez, Esther Onecha, María Bravo, Eloy Rodríguez-Rodríguez, Marta Fernández-Matarrubia
{"title":"A familiar case with an unfamiliar turn.","authors":"Isabel Ros-González, Carmen Lage, Carmen Montes-Gaisan, José María Gómez-Ortega, Sara López-García, Francisco Martínez-Dubarbie, Ana Pozueta-Cantudo, María García-Martínez, Andrea Corrales-Pardo, Eva Ruiz-Pérez, Esther Onecha, María Bravo, Eloy Rodríguez-Rodríguez, Marta Fernández-Matarrubia","doi":"10.1007/s10072-025-08684-9","DOIUrl":"https://doi.org/10.1007/s10072-025-08684-9","url":null,"abstract":"","PeriodicalId":19191,"journal":{"name":"Neurological Sciences","volume":"47 1","pages":"125"},"PeriodicalIF":2.4,"publicationDate":"2026-01-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145934455","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2026-01-08DOI: 10.1007/s10072-025-08677-8
Jean-Marc Bugnicourt
Restless legs syndrome (RLS) is a common, sleep-related, neurological disorder. Various treatments are available but some have side effects. Therefore, alternative treatment options with minimal side effects are being actively sought. Palmitoylethanolamide (PEA) is an endogenous lipid signalling molecule known to have anti-inflammatory and analgesic properties. According to the literature, oral PEA supplementation can decrease the levels of pain associated with central and peripheral neurological conditions, such as migraine and peripheral neuropathy. For the first time, we report of a gabapentin-treated patient whose painful symptoms of RLS decreased in intensity following the initiation of supplementation with PEA. No adverse events were reported.
{"title":"Palmitoylethanolamide (PEA) in the treatment of restless legs syndrome: Rationale and case report.","authors":"Jean-Marc Bugnicourt","doi":"10.1007/s10072-025-08677-8","DOIUrl":"https://doi.org/10.1007/s10072-025-08677-8","url":null,"abstract":"<p><p>Restless legs syndrome (RLS) is a common, sleep-related, neurological disorder. Various treatments are available but some have side effects. Therefore, alternative treatment options with minimal side effects are being actively sought. Palmitoylethanolamide (PEA) is an endogenous lipid signalling molecule known to have anti-inflammatory and analgesic properties. According to the literature, oral PEA supplementation can decrease the levels of pain associated with central and peripheral neurological conditions, such as migraine and peripheral neuropathy. For the first time, we report of a gabapentin-treated patient whose painful symptoms of RLS decreased in intensity following the initiation of supplementation with PEA. No adverse events were reported.</p>","PeriodicalId":19191,"journal":{"name":"Neurological Sciences","volume":"47 1","pages":"121"},"PeriodicalIF":2.4,"publicationDate":"2026-01-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145934512","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2026-01-08DOI: 10.1007/s10072-025-08777-5
Ruqaiyyah Siddiqui, Naveed Ahmed Khan
Poliomyelitis is a neuroinvasive viral disease that, despite near-global eradication, has left millions of survivors worldwide with lifelong motor-system injury. Many develop delayed neurological decline decades later in the form of Post-polio syndrome, characterised by progressive weakness, fatigue, pain, and respiratory compromise. Disease trajectories are highly heterogeneous, unpredictable, and shaped by complex interactions between residual motor-neuron pools, muscle adaptation, ageing, metabolism, and immune tone. Conventional care relies on episodic clinical review and reactive rehabilitation, with limited capacity for long-term personalised forecasting. Digital-twin technology, defined as an adaptive computational model that continuously mirrors an individual's biological and functional state, offers a transformative framework for predictive and precision-guided lifelong polio care. By integrating neuromuscular physiology, biomechanics, metabolic status, wearable sensor data, and rehabilitation responses, digital twins could enable real-time modelling of motor-unit decline, functional reserve, respiratory vulnerability, and fatigue dynamics. This article outlines a focused conceptual framework for polio digital twins, emphasising model architecture, feedback loops, and translational applications, rather than virological biology. The proposed framework positions digital twins as a missing precision-medicine layer for a neglected global survivor population.
{"title":"Digital twin frameworks for polio and post-polio neurodegeneration: Toward predictive, personalised lifelong neuro-rehabilitation.","authors":"Ruqaiyyah Siddiqui, Naveed Ahmed Khan","doi":"10.1007/s10072-025-08777-5","DOIUrl":"https://doi.org/10.1007/s10072-025-08777-5","url":null,"abstract":"<p><p>Poliomyelitis is a neuroinvasive viral disease that, despite near-global eradication, has left millions of survivors worldwide with lifelong motor-system injury. Many develop delayed neurological decline decades later in the form of Post-polio syndrome, characterised by progressive weakness, fatigue, pain, and respiratory compromise. Disease trajectories are highly heterogeneous, unpredictable, and shaped by complex interactions between residual motor-neuron pools, muscle adaptation, ageing, metabolism, and immune tone. Conventional care relies on episodic clinical review and reactive rehabilitation, with limited capacity for long-term personalised forecasting. Digital-twin technology, defined as an adaptive computational model that continuously mirrors an individual's biological and functional state, offers a transformative framework for predictive and precision-guided lifelong polio care. By integrating neuromuscular physiology, biomechanics, metabolic status, wearable sensor data, and rehabilitation responses, digital twins could enable real-time modelling of motor-unit decline, functional reserve, respiratory vulnerability, and fatigue dynamics. This article outlines a focused conceptual framework for polio digital twins, emphasising model architecture, feedback loops, and translational applications, rather than virological biology. The proposed framework positions digital twins as a missing precision-medicine layer for a neglected global survivor population.</p>","PeriodicalId":19191,"journal":{"name":"Neurological Sciences","volume":"47 1","pages":"120"},"PeriodicalIF":2.4,"publicationDate":"2026-01-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145934536","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2026-01-08DOI: 10.1007/s10072-025-08756-w
Kimi Ahtinen, Iiro Korhonen, Hanna Kuusisto, Ilkka Rauma
Background: The clinical characteristics of multiple sclerosis (MS) in individuals aged 65 years and older remain scarcely studied. This retrospective study compared late-onset MS (LOMS, onset ≥ 50 years) and adult-onset MS (AOMS, onset 18-49 years) in older adults with MS (OAwMS) aged ≥ 65 years.
Methods: Data of subjects aged ≥ 65 years with a confirmed MS diagnosis and a recorded age at onset were collected from the Finnish MS registry at Tampere University Hospital, excluding individuals with paediatric-onset MS. Demographics, disease-modifying therapy (DMT) use, relapse history and Expanded Disability Status Scale (EDSS) scores were compared between LOMS and AOMS groups.
Results: The cohort included 248 subjects (41 LOMS, 207 AOMS). Primary progressive MS (PPMS) was more common in LOMS when compared to AOMS (41.5% vs. 12.6% at data acquisition, p < 0.001). Among subjects with a history of relapsing-remitting MS (RRMS) (32 LOMS, 178 AOMS), DMT had been used by 25.0% and 27.5% of subjects with LOMS and AOMS, and relapses after age 65 occurred in 18.8% and 7.3% of subjects with LOMS and AOMS, respectively. Subjects with LOMS discontinued DMT at an older age when compared to those with AOMS (mean 64.0 vs. 58.8 years, p = 0.04). No age-related differences in EDSS were observed after age 65.
Conclusions: PPMS was more common among subjects with LOMS. Among subjects with a current or previous diagnosis of RRMS, occasional relapses were observed after age 65 in both groups, though multiple relapses were rare. These findings support the need for individualised care of OAwMS.
{"title":"Adult-onset and late-onset multiple sclerosis in older adults in a Finnish university hospital.","authors":"Kimi Ahtinen, Iiro Korhonen, Hanna Kuusisto, Ilkka Rauma","doi":"10.1007/s10072-025-08756-w","DOIUrl":"10.1007/s10072-025-08756-w","url":null,"abstract":"<p><strong>Background: </strong>The clinical characteristics of multiple sclerosis (MS) in individuals aged 65 years and older remain scarcely studied. This retrospective study compared late-onset MS (LOMS, onset ≥ 50 years) and adult-onset MS (AOMS, onset 18-49 years) in older adults with MS (OAwMS) aged ≥ 65 years.</p><p><strong>Methods: </strong>Data of subjects aged ≥ 65 years with a confirmed MS diagnosis and a recorded age at onset were collected from the Finnish MS registry at Tampere University Hospital, excluding individuals with paediatric-onset MS. Demographics, disease-modifying therapy (DMT) use, relapse history and Expanded Disability Status Scale (EDSS) scores were compared between LOMS and AOMS groups.</p><p><strong>Results: </strong>The cohort included 248 subjects (41 LOMS, 207 AOMS). Primary progressive MS (PPMS) was more common in LOMS when compared to AOMS (41.5% vs. 12.6% at data acquisition, p < 0.001). Among subjects with a history of relapsing-remitting MS (RRMS) (32 LOMS, 178 AOMS), DMT had been used by 25.0% and 27.5% of subjects with LOMS and AOMS, and relapses after age 65 occurred in 18.8% and 7.3% of subjects with LOMS and AOMS, respectively. Subjects with LOMS discontinued DMT at an older age when compared to those with AOMS (mean 64.0 vs. 58.8 years, p = 0.04). No age-related differences in EDSS were observed after age 65.</p><p><strong>Conclusions: </strong>PPMS was more common among subjects with LOMS. Among subjects with a current or previous diagnosis of RRMS, occasional relapses were observed after age 65 in both groups, though multiple relapses were rare. These findings support the need for individualised care of OAwMS.</p>","PeriodicalId":19191,"journal":{"name":"Neurological Sciences","volume":"47 1","pages":"119"},"PeriodicalIF":2.4,"publicationDate":"2026-01-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12783159/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145934451","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2026-01-08DOI: 10.1007/s10072-025-08626-5
Rita Tucci, M Morra, S Maule, A Chio, A Calvo, M C Vigliani
Autoimmune autonomic ganglionopathy (AAG) is an acquired disease characterized by the dysfunction of the autonomic system, involving the sympathetic, parasympathetic and enteric divisions. We describe the case of a 49-years-old woman who presented with an acute abdomen due to diverticulitis and a severe orthostatic hypotension. During hospitalization she developed fixed mydriasis, xerophthalmia, xerostomia, anhidrosis, and urinary retention. The patient was diagnosed as seropositive AAG. She was treated with intravenous immunoglobulin (IVIg) plus high-dose oral prednisone (OP), followed by plasma exchange (PLEX). The patient showed a good response to the combined therapy and was discharged after nearly one month of hospitalization. Ten days later she experienced a symptomatic relapse, for which a treatment with rituximab (RTX) 1 g once a week was initiated and maintained for 4 weeks. During the second week of infusion, she was readmitted to the hospital due to intestinal perforation. After recovery, RTX was resumed with clinical benefit. In addition to the case report, we present a review of AAG case reports available in the literature.
{"title":"A case of seropositive autoimmune autonomic ganglionopathy treated with rituximab: Case report and review of the literature.","authors":"Rita Tucci, M Morra, S Maule, A Chio, A Calvo, M C Vigliani","doi":"10.1007/s10072-025-08626-5","DOIUrl":"10.1007/s10072-025-08626-5","url":null,"abstract":"<p><p>Autoimmune autonomic ganglionopathy (AAG) is an acquired disease characterized by the dysfunction of the autonomic system, involving the sympathetic, parasympathetic and enteric divisions. We describe the case of a 49-years-old woman who presented with an acute abdomen due to diverticulitis and a severe orthostatic hypotension. During hospitalization she developed fixed mydriasis, xerophthalmia, xerostomia, anhidrosis, and urinary retention. The patient was diagnosed as seropositive AAG. She was treated with intravenous immunoglobulin (IVIg) plus high-dose oral prednisone (OP), followed by plasma exchange (PLEX). The patient showed a good response to the combined therapy and was discharged after nearly one month of hospitalization. Ten days later she experienced a symptomatic relapse, for which a treatment with rituximab (RTX) 1 g once a week was initiated and maintained for 4 weeks. During the second week of infusion, she was readmitted to the hospital due to intestinal perforation. After recovery, RTX was resumed with clinical benefit. In addition to the case report, we present a review of AAG case reports available in the literature.</p>","PeriodicalId":19191,"journal":{"name":"Neurological Sciences","volume":"47 1","pages":"124"},"PeriodicalIF":2.4,"publicationDate":"2026-01-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145934398","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}