Pub Date : 2025-06-01DOI: 10.1016/j.nrl.2023.03.002
J. Alonso-Pérez , O. Barrachina-Esteve , L. González-Quereda , M.L. Viguera-Martinez , M. Luján-Torné , M. Guitart-Feliubadaló , J. Miguel Martínez , Á. Carbayo , P. Gallano , J. Díaz-Manera , M. Olivé , R. Rojas-Garcia
Background
Desminopathies are a clinically heterogeneous group of myopathies, with common histological findings in muscle biopsy. Clinically, they usually present with distal and/or proximal muscle weakness often associated with cardiomyopathy. We present 8 patients from 3 unrelated families manifesting isolated respiratory insufficiency without skeletal muscle weakness or heart disease, because of a mutation in the DES gene.
Methods
Clinical and demographic data were acquired from medical records. Muscle MRI studies were performed in 6 patients. A muscle biopsy study was performed in the index case from each family.
Results
Isolated restrictive respiratory dysfunction was observed in all symptomatic patients, with 2 requiring non-invasive ventilation. Three patients were asymptomatic at the time of the study. None of the patients presented skeletal muscle weakness or heart disease, even after 20 years of disease progression. Muscle MRI showed a common pattern with predominant involvement of the semitendinosus muscle. Muscle biopsy showed patches of cytoplasmic inclusions corresponding to desmin aggregates. The genetic study showed heterozygous presence of the p.Arg415Trp mutation in the DES gene in all patients.
Conclusions
We present 5 patients carrying a p.Arg415Trp mutation in the DES gene, manifesting as isolated restrictive respiratory insufficiency without associated skeletal muscle weakness or heart disease. These cases represent a new phenotype associated with DES mutations, thus suggesting that desminopathy should be considered in the diagnostic workup of patients presenting isolated respiratory failure.
{"title":"Novel DES mutation presenting with isolated restrictive respiratory failure. Expanding the clinical spectrum","authors":"J. Alonso-Pérez , O. Barrachina-Esteve , L. González-Quereda , M.L. Viguera-Martinez , M. Luján-Torné , M. Guitart-Feliubadaló , J. Miguel Martínez , Á. Carbayo , P. Gallano , J. Díaz-Manera , M. Olivé , R. Rojas-Garcia","doi":"10.1016/j.nrl.2023.03.002","DOIUrl":"10.1016/j.nrl.2023.03.002","url":null,"abstract":"<div><h3>Background</h3><div>Desminopathies are a clinically heterogeneous group of myopathies, with common histological findings in muscle biopsy. Clinically, they usually present with distal and/or proximal muscle weakness often associated with cardiomyopathy. We present 8 patients from 3 unrelated families manifesting isolated respiratory insufficiency without skeletal muscle weakness or heart disease, because of a mutation in the <em>DES</em> gene.</div></div><div><h3>Methods</h3><div>Clinical and demographic data were acquired from medical records. Muscle MRI studies were performed in 6 patients. A muscle biopsy study was performed in the index case from each family.</div></div><div><h3>Results</h3><div>Isolated restrictive respiratory dysfunction was observed in all symptomatic patients, with 2 requiring non-invasive ventilation. Three patients were asymptomatic at the time of the study. None of the patients presented skeletal muscle weakness or heart disease, even after 20 years of disease progression. Muscle MRI showed a common pattern with predominant involvement of the semitendinosus muscle. Muscle biopsy showed patches of cytoplasmic inclusions corresponding to desmin aggregates. The genetic study showed heterozygous presence of the p.Arg415Trp mutation in the <em>DES</em> gene in all patients.</div></div><div><h3>Conclusions</h3><div>We present 5 patients carrying a p.Arg415Trp mutation in the <em>DES</em> gene, manifesting as isolated restrictive respiratory insufficiency without associated skeletal muscle weakness or heart disease. These cases represent a new phenotype associated with <em>DES</em> mutations, thus suggesting that desminopathy should be considered in the diagnostic workup of patients presenting isolated respiratory failure.</div></div>","PeriodicalId":19300,"journal":{"name":"Neurologia","volume":"40 5","pages":"Pages 433-441"},"PeriodicalIF":2.9,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144239644","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 : 2025-06-01DOI: 10.1016/j.nrl.2022.11.009
M. Rodrigo-Gisbert , E. Caronna , A. Alpuente , M. Torres-Ferrús , P. Pozo-Rosich
Introduction
Posterior reversible encephalopathy syndrome (PRES) is a neurological disorder consisting in cerebrovascular dysregulation with acute neurological symptoms, including headache. However, there is a paucity of data that point to headache as a sequela of PRES. We aimed to explore its prevalence, characteristics, and impact.
Methods
We retrospectively included all consecutive patients with PRES attended at our institution from April 2018 to January 2022. We collected demographic and clinico-radiological data from the acute phase. During a mean follow-up time of 16 (14) months, we assessed the presence of headache after PRES and evaluated its impact using validated questionnaires.
Results
Of the 27 cases detected, after excluding 16 patients (11 deceased and 5 lost to follow-up), we evaluated 11 patients with a mean age of 38 (14) years; 63.6% were female. After PRES resolution, 9/11 (81.8%) patients presented headache, with migraine-like features in 8/9 (88.9%). Seven patients completed validated questionnaires; on the Migraine Disability Assessment scale, 71.4% (5/7) had moderate–severe disability. The Short Form-36 Health Survey dimensions of general health, physical role, and vitality reflected a deterioration in the quality of life.
Conclusions
Our data suggest that headache is a potential sequela of PRES that could imply subsequent disability. Migraine-like features point to the existence of shared pathophysiological mechanisms with migraine, which may mainly involve vascular and endothelial functions; however, more studies are needed.
{"title":"Headache: A potential sequela of posterior reversible encephalopathy syndrome","authors":"M. Rodrigo-Gisbert , E. Caronna , A. Alpuente , M. Torres-Ferrús , P. Pozo-Rosich","doi":"10.1016/j.nrl.2022.11.009","DOIUrl":"10.1016/j.nrl.2022.11.009","url":null,"abstract":"<div><h3>Introduction</h3><div>Posterior reversible encephalopathy syndrome (PRES) is a neurological disorder consisting in cerebrovascular dysregulation with acute neurological symptoms, including headache. However, there is a paucity of data that point to headache as a sequela of PRES. We aimed to explore its prevalence, characteristics, and impact.</div></div><div><h3>Methods</h3><div>We retrospectively included all consecutive patients with PRES attended at our institution from April 2018 to January 2022. We collected demographic and clinico-radiological data from the acute phase. During a mean follow-up time of 16 (14) months, we assessed the presence of headache after PRES and evaluated its impact using validated questionnaires.</div></div><div><h3>Results</h3><div>Of the 27 cases detected, after excluding 16 patients (11 deceased and 5 lost to follow-up), we evaluated 11 patients with a mean age of 38 (14) years; 63.6% were female. After PRES resolution, 9/11 (81.8%) patients presented headache, with migraine-like features in 8/9 (88.9%). Seven patients completed validated questionnaires; on the Migraine Disability Assessment scale, 71.4% (5/7) had moderate–severe disability. The Short Form-36 Health Survey dimensions of general health, physical role, and vitality reflected a deterioration in the quality of life.</div></div><div><h3>Conclusions</h3><div>Our data suggest that headache is a potential sequela of PRES that could imply subsequent disability. Migraine-like features point to the existence of shared pathophysiological mechanisms with migraine, which may mainly involve vascular and endothelial functions; however, more studies are needed.</div></div>","PeriodicalId":19300,"journal":{"name":"Neurologia","volume":"40 5","pages":"Pages 442-446"},"PeriodicalIF":2.9,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141692497","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 : 2025-06-01DOI: 10.1016/j.nrl.2023.05.005
M. Rodríguez-Rodríguez , Y. Rodríguez-Agudelo , F.J. Soto-Moreno , A. García-Santos , D. López-González , M. González-Navarro , F. Paz-Rodríguez , M. Chávez-Oliveros , S. Lozano-Tovar , K. González-Alonso , A. Castorena-Maldonado , R. Carrillo-Mezo , O. Marrufo-Meléndez , A. Gutiérrez-Romero , M. del Río Quiñones , A. Arauz-Góngora , S. Avila-Rios
Background
Cognitive impairments are one of the most common, insidious, and disabling symptoms of post-COVID-19 syndrome (PC-19), which have been correlated with damage to different brain structures.
Objective
To describe cognitive impairments in PC-19, identify associated variables, and compare the impact of mechanical ventilation on cognitive and neuroimaging outcomes.
Methods
A cohort of COVID-19 survivors was evaluated with neuropsychological tests (NPT) and cranial magnetic resonance imaging (MRI) 12 weeks after hospital discharge. Patients were classified into two groups based on whether they required invasive mechanical ventilation (IMV) or non-invasive mechanical ventilation (NIMV).
Results
Sixty patients completed the study, 41 received IMV and 19 NIMV, with an average age of 57.11 years. 66% scored below 26 points on the MoCA test and 83.3% reported everyday memory failures (EMF). 85% showed impairments in at least one NPT. When comparing results between groups, significant differences were observed in the total MoCA test score (p = 0,045) and EMF (p = 0,032). Significant relationships were observed between the Boston Naming Test (−.287; P = .035), the Rey Figure Recall Test (−.324; P = .017) with parietal atrophy, as well as phonological verbal fluency with frontal atrophy (−.276; P = .042). The HVLT (learning trial) test was related to hippocampal hyperintensity (−.266; P = .050) and cingulate hyperintensity (.311; P = .021). The TMT-B test was related to white matter hyperintensity (.345; P = .010). The presence of poor functional prognosis was correlated with anxiety (P < .001), depression (P < .001), elevated D-dimer levels (P = .002) and the increase in days of intubation (P = .005).
Conclusion
Our study suggests that COVID-19 survivors who had moderate-to-severe infection experience subjective complaints and cognitive impairments in executive function, attention, and memory, regardless of whether invasive mechanical ventilation was used during treatment. We found white matter lesions and cerebral atrophy in frontal and parietal regions that were associated with cognitive deficits. Our findings highlight the clinical need for longitudinal programs capable of evaluating the real impact of SARS-CoV-2 infection on the central nervous system, particularly in the cognitive and emotional domains.
{"title":"Variables asociadas a alteraciones cognitivas en una cohorte de personas sobrevivientes por COVID-19 en hospital de tercer nivel de México","authors":"M. Rodríguez-Rodríguez , Y. Rodríguez-Agudelo , F.J. Soto-Moreno , A. García-Santos , D. López-González , M. González-Navarro , F. Paz-Rodríguez , M. Chávez-Oliveros , S. Lozano-Tovar , K. González-Alonso , A. Castorena-Maldonado , R. Carrillo-Mezo , O. Marrufo-Meléndez , A. Gutiérrez-Romero , M. del Río Quiñones , A. Arauz-Góngora , S. Avila-Rios","doi":"10.1016/j.nrl.2023.05.005","DOIUrl":"10.1016/j.nrl.2023.05.005","url":null,"abstract":"<div><h3>Background</h3><div>Cognitive impairments are one of the most common, insidious, and disabling symptoms of post-COVID-19 syndrome (PC-19), which have been correlated with damage to different brain structures.</div></div><div><h3>Objective</h3><div>To describe cognitive impairments in PC-19, identify associated variables, and compare the impact of mechanical ventilation on cognitive and neuroimaging outcomes.</div></div><div><h3>Methods</h3><div>A cohort of COVID-19 survivors was evaluated with neuropsychological tests (NPT) and cranial magnetic resonance imaging (MRI) 12 weeks after hospital discharge. Patients were classified into two groups based on whether they required invasive mechanical ventilation (IMV) or non-invasive mechanical ventilation (NIMV).</div></div><div><h3>Results</h3><div>Sixty patients completed the study, 41 received IMV and 19 NIMV, with an average age of 57.11 years. 66% scored below 26 points on the MoCA test and 83.3% reported everyday memory failures (EMF). 85% showed impairments in at least one NPT. When comparing results between groups, significant differences were observed in the total MoCA test score (p<!--> <!-->=<!--> <!-->0,045) and EMF (p<!--> <!-->=<!--> <!-->0,032). Significant relationships were observed between the Boston Naming Test (−.287; <em>P</em> <!-->=<!--> <!-->.035), the Rey Figure Recall Test (−.324; <em>P</em> <!-->=<!--> <!-->.017) with parietal atrophy, as well as phonological verbal fluency with frontal atrophy (−.276; <em>P</em> <!-->=<!--> <!-->.042). The HVLT (learning trial) test was related to hippocampal hyperintensity (−.266; <em>P</em> <!-->=<!--> <!-->.050) and cingulate hyperintensity (.311; <em>P</em> <!-->=<!--> <!-->.021). The TMT-B test was related to white matter hyperintensity (.345; <em>P</em> <!-->=<!--> <!-->.010). The presence of poor functional prognosis was correlated with anxiety (<em>P</em> <!--><<!--> <!-->.001), depression (<em>P</em> <!--><<!--> <!-->.001), elevated D-dimer levels (<em>P</em> <!-->=<!--> <!-->.002) and the increase in days of intubation (<em>P</em> <!-->=<!--> <!-->.005).</div></div><div><h3>Conclusion</h3><div>Our study suggests that COVID-19 survivors who had moderate-to-severe infection experience subjective complaints and cognitive impairments in executive function, attention, and memory, regardless of whether invasive mechanical ventilation was used during treatment. We found white matter lesions and cerebral atrophy in frontal and parietal regions that were associated with cognitive deficits. Our findings highlight the clinical need for longitudinal programs capable of evaluating the real impact of SARS-CoV-2 infection on the central nervous system, particularly in the cognitive and emotional domains.</div></div>","PeriodicalId":19300,"journal":{"name":"Neurologia","volume":"40 5","pages":"Pages 409-421"},"PeriodicalIF":2.9,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144239643","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 : 2025-06-01DOI: 10.1016/j.nrl.2023.01.003
F. Acebrón , R. Valverde
Introduction
Stroke is the leading cause of acquired disability in adults and the second leading cause of death. The SEGUICTUS project was carried out with the aim of knowing its clinical management in different hospitals in Spain, in order to promote corrective measures to reduce its incidence and derived consequences.
Methods
This cross-sectional multicenter research was carried out through a survey of 40 questions on opinion, attitude and behavior. The survey was answered by 205 neurology specialists from different regions of Spain.
Results
The availability of resources for stroke management was statistically lower in tertiary and regional hospitals. 36.6% of the participants assessed the presence of cognitive impairment in more than half of the patients, and 37.6% used specific questionnaires to assess cognitive impairment in less than 10% of the patients. The best considered therapeutic options for its treatment were acetylcholinesterase inhibitors and citylcholine. Statistically significant differences were observed in the percentage of participants who began rehabilitation treatment during admission, being lower in tertiary hospitals.
Conclusions
The shortage of stroke units, protocols and specialized consultations for the care of stroke patients may have an impact on the treatment of potential sequelae of stroke, such as cognitive impairment and motor sequelae. It is necessary to evaluate the deficit points in stroke management and implement the appropriate corrective measures.
{"title":"Estudio SEGUICTUS: manejo y seguimiento del paciente con ictus en España","authors":"F. Acebrón , R. Valverde","doi":"10.1016/j.nrl.2023.01.003","DOIUrl":"10.1016/j.nrl.2023.01.003","url":null,"abstract":"<div><h3>Introduction</h3><div>Stroke is the leading cause of acquired disability in adults and the second leading cause of death. The SEGUICTUS project was carried out with the aim of knowing its clinical management in different hospitals in Spain, in order to promote corrective measures to reduce its incidence and derived consequences.</div></div><div><h3>Methods</h3><div>This cross-sectional multicenter research was carried out through a survey of 40 questions on opinion, attitude and behavior. The survey was answered by 205 neurology specialists from different regions of Spain.</div></div><div><h3>Results</h3><div>The availability of resources for stroke management was statistically lower in tertiary and regional hospitals. 36.6% of the participants assessed the presence of cognitive impairment in more than half of the patients, and 37.6% used specific questionnaires to assess cognitive impairment in less than 10% of the patients. The best considered therapeutic options for its treatment were acetylcholinesterase inhibitors and citylcholine. Statistically significant differences were observed in the percentage of participants who began rehabilitation treatment during admission, being lower in tertiary hospitals.</div></div><div><h3>Conclusions</h3><div>The shortage of stroke units, protocols and specialized consultations for the care of stroke patients may have an impact on the treatment of potential sequelae of stroke, such as cognitive impairment and motor sequelae. It is necessary to evaluate the deficit points in stroke management and implement the appropriate corrective measures.</div></div>","PeriodicalId":19300,"journal":{"name":"Neurologia","volume":"40 5","pages":"Pages 456-467"},"PeriodicalIF":2.9,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144239715","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 : 2025-06-01DOI: 10.1016/j.nrl.2024.01.003
R. Ghosh , M. León-Ruiz , A.S. Mondal , S. Dubey , J. Benito-León
{"title":"Cockayne syndrome B with axonal sensorimotor polyneuropathy caused by a de novo mutation of the gene ERCC6: A novel phenotypic and genotypic variant","authors":"R. Ghosh , M. León-Ruiz , A.S. Mondal , S. Dubey , J. Benito-León","doi":"10.1016/j.nrl.2024.01.003","DOIUrl":"10.1016/j.nrl.2024.01.003","url":null,"abstract":"","PeriodicalId":19300,"journal":{"name":"Neurologia","volume":"40 5","pages":"Pages 484-487"},"PeriodicalIF":2.9,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144239718","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 : 2025-04-09DOI: 10.1016/j.nrl.2023.09.004
C. Jauregui Larrañaga , M. Villagrán-García , J. Cabello Murgui , M.I. Barceló Artigues , E. Bargay Pizarro , M.C. Gil Alzueta , I. Esparragosa Vázquez , L. Bataller Alberola , R. Velasco Fargas , M.E. Erro Aguirre
Introduction
The oncologic patient may require the evaluation by neurologist when they are admitted at hospital. The aim of our study was to determine the frequency and characteristics of hospital interconsultations (ICh) received by the neurology department concerning oncology patients admitted to the hospital.
Material and methods
A retrospective multicentre study analyzing ICh to neurology concerning onco-hematological patients admitted during five consecutive years (2016-2020) in four tertiary hospitals in Spain was carried out.
Results
A total of 2.091 ICh from 1.710 patients were analysed, most of them male (55.5%; 969/2,091) with a median age of 60.5 years (range 15-92). Most of the ICh came from medical oncology (43.2%; 904/2,091) and hematology (42.2%; 882/2,091) departments. Neuro-oncological ICh accounted for approximately 17% (2,091/12,242) of the total number of ICh performed in the neurology department during the five years included in this study. The most frequent reasons for consultation were limb motor deficit (18.3%; 381/2,077), confusional syndrome (14.1%; 292/2,077), epileptic seizures (12.2%; 254/2,077) and headache (8.1%; 169/2,077). The most frequent associated tumors were lung cancer (18.3%; 383/2,089), leukemia (19%; 396/2,089), lymphoma (17.1%; 357/2,089) and primary brain tumor (12.1%; 353/2,089). The majority (69.9%; 1,460/2,089) of patients were undergoing active or recent cancer treatment. Final neurological diagnoses included metabolic encephalopathy (11.2%; 234/2,091), tumor progression (11%; 231/2,091), cerebral vascular complications (10.1%; 212/2,091), metastases (9.1%; 191/2,091) and leptomeningeal dissemination (8.9%; 186/2,091). 15.4% (323/2,091) of the IChs were closed with an undetermined diagnosis. The median time that the ICh required to be open was 3 days (range 1-152).
Conclusions
The ICh of onco-haematological patients are heterogeneous, with an increasing incidence and complexity, requiring management by neurologists with experience in neuro-oncological patient.
{"title":"Complejidad de las interconsultas hospitalarias neuro-oncológicas: estudio multicéntrico","authors":"C. Jauregui Larrañaga , M. Villagrán-García , J. Cabello Murgui , M.I. Barceló Artigues , E. Bargay Pizarro , M.C. Gil Alzueta , I. Esparragosa Vázquez , L. Bataller Alberola , R. Velasco Fargas , M.E. Erro Aguirre","doi":"10.1016/j.nrl.2023.09.004","DOIUrl":"10.1016/j.nrl.2023.09.004","url":null,"abstract":"<div><h3>Introduction</h3><div>The oncologic patient may require the evaluation by neurologist when they are admitted at hospital. The aim of our study was to determine the frequency and characteristics of hospital interconsultations (ICh) received by the neurology department concerning oncology patients admitted to the hospital.</div></div><div><h3>Material and methods</h3><div>A retrospective multicentre study analyzing ICh to neurology concerning onco-hematological patients admitted during five consecutive years (2016-2020) in four tertiary hospitals in Spain was carried out.</div></div><div><h3>Results</h3><div>A total of 2.091 ICh from 1.710 patients were analysed, most of them male (55.5%; 969/2,091) with a median age of 60.5<!--> <!-->years (range 15-92). Most of the ICh came from medical oncology (43.2%; 904/2,091) and hematology (42.2%; 882/2,091) departments. Neuro-oncological ICh accounted for approximately 17% (2,091/12,242) of the total number of ICh performed in the neurology department during the five years included in this study. The most frequent reasons for consultation were limb motor deficit (18.3%; 381/2,077), confusional syndrome (14.1%; 292/2,077), epileptic seizures (12.2%; 254/2,077) and headache (8.1%; 169/2,077). The most frequent associated tumors were lung cancer (18.3%; 383/2,089), leukemia (19%; 396/2,089), lymphoma (17.1%; 357/2,089) and primary brain tumor (12.1%; 353/2,089). The majority (69.9%; 1,460/2,089) of patients were undergoing active or recent cancer treatment. Final neurological diagnoses included metabolic encephalopathy (11.2%; 234/2,091), tumor progression (11%; 231/2,091), cerebral vascular complications (10.1%; 212/2,091), metastases (9.1%; 191/2,091) and leptomeningeal dissemination (8.9%; 186/2,091). 15.4% (323/2,091) of the IChs were closed with an undetermined diagnosis. The median time that the ICh required to be open was 3<!--> <!-->days (range 1-152).</div></div><div><h3>Conclusions</h3><div>The ICh of onco-haematological patients are heterogeneous, with an increasing incidence and complexity, requiring management by neurologists with experience in neuro-oncological patient.</div></div>","PeriodicalId":19300,"journal":{"name":"Neurologia","volume":"40 4","pages":"Pages 372-379"},"PeriodicalIF":2.9,"publicationDate":"2025-04-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143870856","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 : 2025-03-20DOI: 10.1016/j.nrl.2023.11.004
R. Sivera Mascaró , T. García Sobrino , A. Horga Hernández , A.L. Pelayo Negro , A. Alonso Jiménez , A. Antelo Pose , M.D. Calabria Gallego , C. Casasnovas , C.A. Cemillán Fernández , J. Esteban Pérez , M. Fenollar Cortés , M. Frasquet Carrera , M.P. Gallano Petit , A. Giménez Muñoz , G. Gutiérrez Gutiérrez , A. Gutiérrez Martínez , R. Juntas Morales , N.L. Ciano-Petersen , P.L. Martínez Ulloa , S. Mederer Hengstl , T. Sevilla Mantecón
Introduction
Charcot-Marie-Tooth (CMT) disease is classified considering the neurophysiological and histological findings, the inheritance pattern and the underlying genetic defect. In recent years, with the advent of next generation sequencing, genetic complexity has increased exponentially, expanding the knowledge about disease pathways, and having an impact in clinical management. The aim of this guide is to offer recommendations for the diagnosis, prognosis, monitoring and treatment of this disease in Spain.
Material and methods
This consensus guideline has been developed by a multidisciplinary panel encompassing a broad group of professionals including neurologists, neuropediatricians, geneticists, rehabilitators, and orthopedic surgeons.
Recommendations
The diagnosis is based in the clinical characterization, usually presenting with a common phenotype. It should be followed by an appropriate neurophysiological study that allows for a correct classification, specific recommendations are established for the parameters that should be included. Genetic diagnosis must be approached in sequentially, once the PMP22 duplication has been ruled out if appropriate, a next generation sequencing should be considered taking into account the limitations of the available techniques. To date, there is no pharmacological treatment that modifies the course of the disease, but symptomatic management is important, as are the rehabilitation and orthopedic considerations. The latter should be initiated early to identify and improve the patient's functional impairments, including individualized exercise guidelines, orthotic adaptation, and assessment of conservative surgeries such as tendon transpositions. The follow-up of patients with CMT is exclusively clinical, ancillary testing are not necessary in routine clinical practice.
{"title":"Guía práctica de diagnóstico y manejo en la enfermedad de Charcot-Marie-Tooth en España","authors":"R. Sivera Mascaró , T. García Sobrino , A. Horga Hernández , A.L. Pelayo Negro , A. Alonso Jiménez , A. Antelo Pose , M.D. Calabria Gallego , C. Casasnovas , C.A. Cemillán Fernández , J. Esteban Pérez , M. Fenollar Cortés , M. Frasquet Carrera , M.P. Gallano Petit , A. Giménez Muñoz , G. Gutiérrez Gutiérrez , A. Gutiérrez Martínez , R. Juntas Morales , N.L. Ciano-Petersen , P.L. Martínez Ulloa , S. Mederer Hengstl , T. Sevilla Mantecón","doi":"10.1016/j.nrl.2023.11.004","DOIUrl":"10.1016/j.nrl.2023.11.004","url":null,"abstract":"<div><h3>Introduction</h3><div>Charcot-Marie-Tooth (CMT) disease is classified considering the neurophysiological and histological findings, the inheritance pattern and the underlying genetic defect. In recent years, with the advent of next generation sequencing, genetic complexity has increased exponentially, expanding the knowledge about disease pathways, and having an impact in clinical management. The aim of this guide is to offer recommendations for the diagnosis, prognosis, monitoring and treatment of this disease in Spain.</div></div><div><h3>Material and methods</h3><div>This consensus guideline has been developed by a multidisciplinary panel encompassing a broad group of professionals including neurologists, neuropediatricians, geneticists, rehabilitators, and orthopedic surgeons.</div></div><div><h3>Recommendations</h3><div>The diagnosis is based in the clinical characterization, usually presenting with a common phenotype. It should be followed by an appropriate neurophysiological study that allows for a correct classification, specific recommendations are established for the parameters that should be included. Genetic diagnosis must be approached in sequentially, once the <em>PMP22</em> duplication has been ruled out if appropriate, a next generation sequencing should be considered taking into account the limitations of the available techniques. To date, there is no pharmacological treatment that modifies the course of the disease, but symptomatic management is important, as are the rehabilitation and orthopedic considerations. The latter should be initiated early to identify and improve the patient's functional impairments, including individualized exercise guidelines, orthotic adaptation, and assessment of conservative surgeries such as tendon transpositions. The follow-up of patients with CMT is exclusively clinical, ancillary testing are not necessary in routine clinical practice.</div></div>","PeriodicalId":19300,"journal":{"name":"Neurologia","volume":"40 3","pages":"Pages 290-305"},"PeriodicalIF":2.9,"publicationDate":"2025-03-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143680719","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 : 2025-03-01DOI: 10.1016/j.nrl.2022.10.001
U. Gómez-Pinedo , L. Torre-Fuentes , J.A. Matías-Guiu , V. Pytel , D.D. Ojeda-Hernández , B. Selma-Calvo , P. Montero-Escribano , L. Vidorreta-Ballesteros , J. Matías-Guiu
Introduction
Several studies have analysed the presence of P2RX7 variants in patients with MS, reporting diverging results.
Methods
Our study analyses P2RX7 variants detected through whole-exome sequencing (WES).
Results
We analysed P2RX7, P2RX4, and CAMKK2 gene variants detected by whole-exome sequencing in all living members (n = 127) of 21 families including at least 2 individuals with multiple sclerosis. P2RX7 gene polymorphisms previously associated with autoimmune disease. Although no differences were observed between individuals with and without multiple sclerosis, we found greater polymorphism of gain-of-function variants of P2RX7 in families with individuals with multiple sclerosis than in the general population. Copresence of gain-of-function and loss-of-function variants was not observed to reduce the risk of presenting the disease. Three families displayed heterozygous gain-of-function SNPs in patients with multiple sclerosis but not in healthy individuals. We were unable to determine the impact of copresence of P2RX4 and CAMKK2 variants with P2RX7 variants, or the potential effect of the different haplotypes described in the gene. No clinical correlations with other autoimmune diseases were observed in our cohort.
Conclusions
Our results support the hypothesis that the disease is polygenic and point to a previously unknown mechanism of genetic predisposition to familial forms of multiple sclerosis. P2RX7 gene activity can be modified, which suggests the possibility of preventive pharmacological treatments for families including patients with familial multiple sclerosis.
{"title":"Exonic variants of the P2RX7 gene in familial multiple sclerosis","authors":"U. Gómez-Pinedo , L. Torre-Fuentes , J.A. Matías-Guiu , V. Pytel , D.D. Ojeda-Hernández , B. Selma-Calvo , P. Montero-Escribano , L. Vidorreta-Ballesteros , J. Matías-Guiu","doi":"10.1016/j.nrl.2022.10.001","DOIUrl":"10.1016/j.nrl.2022.10.001","url":null,"abstract":"<div><h3>Introduction</h3><div>Several studies have analysed the presence of <em>P2RX7</em> variants in patients with MS, reporting diverging results.</div></div><div><h3>Methods</h3><div>Our study analyses <em>P2RX7</em> variants detected through whole-exome sequencing (WES).</div></div><div><h3>Results</h3><div>We analysed <em>P2RX7</em>, <em>P2RX4</em>, and <em>CAMKK2</em> gene variants detected by whole-exome sequencing in all living members (n = 127) of 21 families including at least 2 individuals with multiple sclerosis. <em>P2RX7</em> gene polymorphisms previously associated with autoimmune disease. Although no differences were observed between individuals with and without multiple sclerosis, we found greater polymorphism of gain-of-function variants of <em>P2RX7</em> in families with individuals with multiple sclerosis than in the general population. Copresence of gain-of-function and loss-of-function variants was not observed to reduce the risk of presenting the disease. Three families displayed heterozygous gain-of-function SNPs in patients with multiple sclerosis but not in healthy individuals. We were unable to determine the impact of copresence of <em>P2RX4</em> and <em>CAMKK2</em> variants with <em>P2RX7</em> variants, or the potential effect of the different haplotypes described in the gene. No clinical correlations with other autoimmune diseases were observed in our cohort.</div></div><div><h3>Conclusions</h3><div>Our results support the hypothesis that the disease is polygenic and point to a previously unknown mechanism of genetic predisposition to familial forms of multiple sclerosis. <em>P2RX7</em> gene activity can be modified, which suggests the possibility of preventive pharmacological treatments for families including patients with familial multiple sclerosis.</div></div>","PeriodicalId":19300,"journal":{"name":"Neurologia","volume":"40 2","pages":"Pages 150-160"},"PeriodicalIF":2.9,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143548479","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 : 2025-03-01DOI: 10.1016/j.nrl.2023.05.003
A. Barragán-Prieto , S. Pérez-Sánchez , M. Castellanos , A. González , J. Montaner
Introduction
In recent years, Telestroke programmes have been established as a fundamental tool for extending acute stroke care to hospitals that lack an on-call neurology service. The main objective of this study is to describe the existence and functioning of the different Telestroke systems and networks (TS) in Spain.
Method
We conducted a cross-sectional study to analyse the current situation of TS in Spain using a structured survey distributed among the members of the Stroke Study Group of the Spanish Society of Neurology.
Results
Responses were received from 12 of the 17 Spanish autonomous communities, of which 10 had implemented TS. In addition, a literature search revealed that 2 other systems were in operation. Twelve of the 17 regions in the country have TS, achieving coverage of at least 20% of the Spanish population. Of these 10 TS, organisation was regional in 7, provincial in 2, and hospital-based in one. Most TS (9) included at least simple CT and angio-CT studies; 4 also included perfusion imaging. Nine TS operated with professional videoconferencing equipment. However, the suboptimal quality of examination via videoconferencing scan was the main problem identified in 50% of TS. Other problems detected are difficulty obtaining data from registries and the transfer of images between hospitals.
Conclusion
In recent years, a significant expansion of TS has taken place in Spain, which has improved the accessibility of specialised care in patients with symptoms of acute stroke. This study allows us to describe the different types of TS in Spain and to detect areas for improvement and expansion, and could contribute to defining regional telestroke implementation strategies to offer quality care to the whole population.
{"title":"Estudio de la situación actual del Teleictus en España","authors":"A. Barragán-Prieto , S. Pérez-Sánchez , M. Castellanos , A. González , J. Montaner","doi":"10.1016/j.nrl.2023.05.003","DOIUrl":"10.1016/j.nrl.2023.05.003","url":null,"abstract":"<div><h3>Introduction</h3><div>In recent years, Telestroke programmes have been established as a fundamental tool for extending acute stroke care to hospitals that lack an on-call neurology service. The main objective of this study is to describe the existence and functioning of the different Telestroke systems and networks (TS) in Spain.</div></div><div><h3>Method</h3><div>We conducted a cross-sectional study to analyse the current situation of TS in Spain using a structured survey distributed among the members of the Stroke Study Group of the Spanish Society of Neurology.</div></div><div><h3>Results</h3><div>Responses were received from 12 of the 17 Spanish autonomous communities, of which 10 had implemented TS. In addition, a literature search revealed that 2 other systems were in operation. Twelve of the 17 regions in the country have TS, achieving coverage of at least 20% of the Spanish population. Of these 10 TS, organisation was regional in 7, provincial in 2, and hospital-based in one. Most TS (9) included at least simple CT and angio-CT studies; 4 also included perfusion imaging. Nine TS operated with professional videoconferencing equipment. However, the suboptimal quality of examination via videoconferencing scan was the main problem identified in 50% of TS. Other problems detected are difficulty obtaining data from registries and the transfer of images between hospitals.</div></div><div><h3>Conclusion</h3><div>In recent years, a significant expansion of TS has taken place in Spain, which has improved the accessibility of specialised care in patients with symptoms of acute stroke. This study allows us to describe the different types of TS in Spain and to detect areas for improvement and expansion, and could contribute to defining regional telestroke implementation strategies to offer quality care to the whole population.</div></div>","PeriodicalId":19300,"journal":{"name":"Neurologia","volume":"40 2","pages":"Pages 182-190"},"PeriodicalIF":2.9,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"44375680","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}
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