Pub Date : 2025-12-24DOI: 10.1016/j.nrleng.2025.101893
Julián Benito-León, Carla Mª Benito-Rodríguez
{"title":"Comments on the article \"Mortality rates for Parkinson's disease are increasing in Spain. An age-period-cohort and joinpoint analysis of mortality rates from 1981 to 2020\".","authors":"Julián Benito-León, Carla Mª Benito-Rodríguez","doi":"10.1016/j.nrleng.2025.101893","DOIUrl":"10.1016/j.nrleng.2025.101893","url":null,"abstract":"","PeriodicalId":94155,"journal":{"name":"Neurologia","volume":" ","pages":"101893"},"PeriodicalIF":0.0,"publicationDate":"2025-12-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145844626","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2025-12-24DOI: 10.1016/j.nrleng.2025.501933
C Domínguez-González, M Á Barba Romero, C Caballero Eraso, J de Las Heras, E Farrero Muñoz, Ó García-Campos, M González, J M Grau, A Hernández-Voth, R Juntas Morales, J C León Hernández, M Ley Martos, D López-Padilla, N Muelas, A Nascimento, M Olivé, C Paradas, J Pardo Fernández, S I Pascual, I Pitarch, J Sancho, J Díaz-Manera
Pompe disease or glycogenosis type II is a rare disease caused by mutations in the GAA gene that leads to deficiency of the acid alpha-1,4-glucosidase enzyme. As a result of the enzymatic defect, a progressive accumulation of intralysosomal glycogen occurs in various tissues, causing smooth, cardiac and skeletal muscle involvement. When the age of onset of the disease is after the first year of life, it is called late-onset Pompe disease (LOPD). Weakness of the axial and proximal waist muscles and respiratory dysfunction are common manifestations. Enzyme replacement therapy (ERT) has been available for more than 15 years and is the standard treatment. This therapy changes the course of the disease, although the effectiveness of the treatment reduces over time. New enzyme therapies represent new treatment opportunities for patients with LOPD. Here we present updated recommendations from a group of experts in Pompe disease on the diagnosis, treatment and follow-up of LOPD patients, with the aim of providing a guide for the clinical management of the disease.
{"title":"Recommendations for the diagnosis, treatment, and follow-up of late-onset Pompe disease.","authors":"C Domínguez-González, M Á Barba Romero, C Caballero Eraso, J de Las Heras, E Farrero Muñoz, Ó García-Campos, M González, J M Grau, A Hernández-Voth, R Juntas Morales, J C León Hernández, M Ley Martos, D López-Padilla, N Muelas, A Nascimento, M Olivé, C Paradas, J Pardo Fernández, S I Pascual, I Pitarch, J Sancho, J Díaz-Manera","doi":"10.1016/j.nrleng.2025.501933","DOIUrl":"10.1016/j.nrleng.2025.501933","url":null,"abstract":"<p><p>Pompe disease or glycogenosis type II is a rare disease caused by mutations in the GAA gene that leads to deficiency of the acid alpha-1,4-glucosidase enzyme. As a result of the enzymatic defect, a progressive accumulation of intralysosomal glycogen occurs in various tissues, causing smooth, cardiac and skeletal muscle involvement. When the age of onset of the disease is after the first year of life, it is called late-onset Pompe disease (LOPD). Weakness of the axial and proximal waist muscles and respiratory dysfunction are common manifestations. Enzyme replacement therapy (ERT) has been available for more than 15 years and is the standard treatment. This therapy changes the course of the disease, although the effectiveness of the treatment reduces over time. New enzyme therapies represent new treatment opportunities for patients with LOPD. Here we present updated recommendations from a group of experts in Pompe disease on the diagnosis, treatment and follow-up of LOPD patients, with the aim of providing a guide for the clinical management of the disease.</p>","PeriodicalId":94155,"journal":{"name":"Neurologia","volume":" ","pages":"501933"},"PeriodicalIF":0.0,"publicationDate":"2025-12-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145844655","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2025-12-24DOI: 10.1016/j.nrleng.2025.501929
M Fernández-Hontoria, R P Romero-Galisteo, M Torres-Lacomba, C González-Alted, Á Megía-García-Carpintero, C Lirio-Romero
Introduction: Balance assessment measures are often validated in the general population or older adults, but rarely in individuals with neurological impairment. This study reports the transcultural adaption and validation of the Balance Evaluation Systems Test (BESTest) and its short forms, the Mini-BESTest and Brief-BESTest, in a Spanish population with acquired brain injury (ABI).
Methods: The study was conducted in 3 stages: 1) translation and adaptation of the tests, 2) pilot test of the adapted version, and 3) assessment of psychometric properties (reliability and validity). The Berg Balance Scale was used as the criterion variable; construct validity was assessed by exploratory factor analysis of all items of each test; and reliability was tested by calculating Cronbach's alpha and the intra-class correlation coefficient.
Results: A total of 108 patients with subacute and chronic ABI participated in the study. Psychometric analysis of the 3 tests demonstrated good convergent validity, internal consistency, inter-rater reliability (0.998-0.969), and test-retest reliability (0.985-0.989). Convergent validity was observed with the Berg Balance Scale (r = 0.901, P < .001; r = 0.977, P < .001; r = 0.852, P < .001, respectively), as well as other gait and balance scales. No ceiling or floor effects were found in the adapted versions of the BESTest, Mini-BESTest, and Brief-BESTest for the Spanish population with ABI.
Conclusions: All 3 tests are reliable and valid, with BESTest being the best option for assessing balance in people with ABI, both in the subacute and chronic phase, as it includes domains that other tools do not assess.
{"title":"Transcultural adaptation and validity to Spanish population with acquired brain injury of the Balance Evaluation Systems Test (BESTest) and their reduced versions (Mini-BESTest and Brief-BESTest).","authors":"M Fernández-Hontoria, R P Romero-Galisteo, M Torres-Lacomba, C González-Alted, Á Megía-García-Carpintero, C Lirio-Romero","doi":"10.1016/j.nrleng.2025.501929","DOIUrl":"10.1016/j.nrleng.2025.501929","url":null,"abstract":"<p><strong>Introduction: </strong>Balance assessment measures are often validated in the general population or older adults, but rarely in individuals with neurological impairment. This study reports the transcultural adaption and validation of the Balance Evaluation Systems Test (BESTest) and its short forms, the Mini-BESTest and Brief-BESTest, in a Spanish population with acquired brain injury (ABI).</p><p><strong>Methods: </strong>The study was conducted in 3 stages: 1) translation and adaptation of the tests, 2) pilot test of the adapted version, and 3) assessment of psychometric properties (reliability and validity). The Berg Balance Scale was used as the criterion variable; construct validity was assessed by exploratory factor analysis of all items of each test; and reliability was tested by calculating Cronbach's alpha and the intra-class correlation coefficient.</p><p><strong>Results: </strong>A total of 108 patients with subacute and chronic ABI participated in the study. Psychometric analysis of the 3 tests demonstrated good convergent validity, internal consistency, inter-rater reliability (0.998-0.969), and test-retest reliability (0.985-0.989). Convergent validity was observed with the Berg Balance Scale (r = 0.901, P < .001; r = 0.977, P < .001; r = 0.852, P < .001, respectively), as well as other gait and balance scales. No ceiling or floor effects were found in the adapted versions of the BESTest, Mini-BESTest, and Brief-BESTest for the Spanish population with ABI.</p><p><strong>Conclusions: </strong>All 3 tests are reliable and valid, with BESTest being the best option for assessing balance in people with ABI, both in the subacute and chronic phase, as it includes domains that other tools do not assess.</p>","PeriodicalId":94155,"journal":{"name":"Neurologia","volume":" ","pages":"501929"},"PeriodicalIF":0.0,"publicationDate":"2025-12-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145844666","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2025-12-24DOI: 10.1016/j.nrleng.2025.501934
J M Láinez Andrés, C Íñiguez Martínez, J Porta Etessam, D Ezpeleta Echávarri, M T Martínez de Albéniz Zabaleta, M M Bilbao, F Escamilla Sevilla, D M Cerdán Santacruz, D García Azorín, J Carmiña Muñiz, S Arias Rivas, S Gil Navarro, I C Labordena, M E Gil Girbau, C Santarrosa Mateo
Introduction: With the aim of redesigning the role of promoting and fostering the progress of neurology and anticipating the social, scientific, health, and economic context provided by the development of our specialty, the Spanish Society of Neurology has decided to formalise its direction in a Strategic Plan, the elements of which are shared in this article.
Methods: The development of the Plan has been structured in 3 phases: internal and external analysis, strategic projection, and formalisation of the plan. A qualitative and strategic analysis approach has been incorporated, through surveys, interviews, and participatory sessions with the SEN, with the participation of approximately 500 members and other professionals in the field. The current situation of the SEN and its environment has been explicitly stated, the corporate identity has been defined, and strengths, weaknesses, threats, and opportunities have been analysed using the SWOT/CAME matrix. Finally, an Action Plan has been developed that identifies strategic pillars, objectives, and actions to be implemented.
Results: Five Strategic Pillars have been identified (the SEN's Image; Service Portfolio; Participatory Spaces; Digital Transformation; Results-Oriented Management), comprising a total of 23 strategic objectives. A total of 80 actions are proposed to achieve the Plan's objectives by 2025.
Conclusions: The deployment of the Strategic Plan involves having a backbone instrument for the strategic lines that are expected to favour the position of the SEN as a key player within the specialty of neurology in the face of current and future challenges.
{"title":"How do we face the challenges of the Spanish Society of Neurology? Strategic Plan of the Spanish Society of Neurology.","authors":"J M Láinez Andrés, C Íñiguez Martínez, J Porta Etessam, D Ezpeleta Echávarri, M T Martínez de Albéniz Zabaleta, M M Bilbao, F Escamilla Sevilla, D M Cerdán Santacruz, D García Azorín, J Carmiña Muñiz, S Arias Rivas, S Gil Navarro, I C Labordena, M E Gil Girbau, C Santarrosa Mateo","doi":"10.1016/j.nrleng.2025.501934","DOIUrl":"10.1016/j.nrleng.2025.501934","url":null,"abstract":"<p><strong>Introduction: </strong>With the aim of redesigning the role of promoting and fostering the progress of neurology and anticipating the social, scientific, health, and economic context provided by the development of our specialty, the Spanish Society of Neurology has decided to formalise its direction in a Strategic Plan, the elements of which are shared in this article.</p><p><strong>Methods: </strong>The development of the Plan has been structured in 3 phases: internal and external analysis, strategic projection, and formalisation of the plan. A qualitative and strategic analysis approach has been incorporated, through surveys, interviews, and participatory sessions with the SEN, with the participation of approximately 500 members and other professionals in the field. The current situation of the SEN and its environment has been explicitly stated, the corporate identity has been defined, and strengths, weaknesses, threats, and opportunities have been analysed using the SWOT/CAME matrix. Finally, an Action Plan has been developed that identifies strategic pillars, objectives, and actions to be implemented.</p><p><strong>Results: </strong>Five Strategic Pillars have been identified (the SEN's Image; Service Portfolio; Participatory Spaces; Digital Transformation; Results-Oriented Management), comprising a total of 23 strategic objectives. A total of 80 actions are proposed to achieve the Plan's objectives by 2025.</p><p><strong>Conclusions: </strong>The deployment of the Strategic Plan involves having a backbone instrument for the strategic lines that are expected to favour the position of the SEN as a key player within the specialty of neurology in the face of current and future challenges.</p>","PeriodicalId":94155,"journal":{"name":"Neurologia","volume":" ","pages":"501934"},"PeriodicalIF":0.0,"publicationDate":"2025-12-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145844673","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2025-11-01DOI: 10.1016/j.nrleng.2025.08.003
A. Rivero-de-Aguilar , M. Mascareñas-García , M. Pérez-Ríos , M.A. Llaneza-Gonzalez , P. Mulero , M. Mendibe , À. Rovira , V. Meca-Lallana , A.J. García-Ruiz , L. Landete , J.R. Vizoso Hermida , P. Carrascal Rueda , A. Ruano-Raviña , M. Puente-Hernandez , L. Varela-Lema
Introduction
In recent years there has been an increase in the number of disease-modifying drugs (DMDs) approved for multiple sclerosis (MS). The evidence of their safety and efficacy has been obtained through several phase III and IV clinical trials. Acquiring the skills for their appraisal is indispensable for clinicians to assess the most pertinent treatment for patients. The objective of this study is to provide guidance in the critical reading of these trials.
Methods
A three-round e-Delphi study was carried out. In the preparatory phase, a multidisciplinary expert panel was established. Panel members were selected based on their scientific credentials and experience, seeking to include people involved in MS diagnosis, treatment and research. A semi-open questionnaire was developed based on key generic and MS-specific methodological instruments identified through a scoping bibliographic search. The experts were required to identify essential aspects for critically appraising clinical trials on DMDs for MS.
Results
The expert panel consisted of nine independent leading Spanish experts with long-standing experience with MS (five neurologists, a neuroradiologist, a pharmacologist, a research methodologist and an MS community representative). The e-Delphi study resulted in consensus recommendations intended to help readers in answering five major questions: “Is the study free of bias?”; “Are the included patients adequate?”; “Are the outcome measures appropriate?”; “Are the results relevant?”; and “Is the study transparent?”.
Conclusion
This study proposes consensus recommendations intended to guide neurologists in the critical reading of phase III and IV clinical trials on DMDs for MS.
{"title":"Recommendations for the critical reading of clinical trials on disease-modifying drugs for multiple sclerosis","authors":"A. Rivero-de-Aguilar , M. Mascareñas-García , M. Pérez-Ríos , M.A. Llaneza-Gonzalez , P. Mulero , M. Mendibe , À. Rovira , V. Meca-Lallana , A.J. García-Ruiz , L. Landete , J.R. Vizoso Hermida , P. Carrascal Rueda , A. Ruano-Raviña , M. Puente-Hernandez , L. Varela-Lema","doi":"10.1016/j.nrleng.2025.08.003","DOIUrl":"10.1016/j.nrleng.2025.08.003","url":null,"abstract":"<div><h3>Introduction</h3><div>In recent years there has been an increase in the number of disease-modifying drugs (DMDs) approved for multiple sclerosis (MS). The evidence of their safety and efficacy has been obtained through several phase III and IV clinical trials. Acquiring the skills for their appraisal is indispensable for clinicians to assess the most pertinent treatment for patients. The objective of this study is to provide guidance in the critical reading of these trials.</div></div><div><h3>Methods</h3><div>A three-round e-Delphi study was carried out. In the preparatory phase, a multidisciplinary expert panel was established. Panel members were selected based on their scientific credentials and experience, seeking to include people involved in MS diagnosis, treatment and research. A semi-open questionnaire was developed based on key generic and MS-specific methodological instruments identified through a scoping bibliographic search. The experts were required to identify essential aspects for critically appraising clinical trials on DMDs for MS.</div></div><div><h3>Results</h3><div>The expert panel consisted of nine independent leading Spanish experts with long-standing experience with MS (five neurologists, a neuroradiologist, a pharmacologist, a research methodologist and an MS community representative). The e-Delphi study resulted in consensus recommendations intended to help readers in answering five major questions: “Is the study free of bias?”; “Are the included patients adequate?”; “Are the outcome measures appropriate?”; “Are the results relevant?”; and “Is the study transparent?”.</div></div><div><h3>Conclusion</h3><div>This study proposes consensus recommendations intended to guide neurologists in the critical reading of phase III and IV clinical trials on DMDs for MS.</div></div>","PeriodicalId":94155,"journal":{"name":"Neurologia","volume":"40 9","pages":"Pages 875-883"},"PeriodicalIF":0.0,"publicationDate":"2025-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145435360","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2025-11-01DOI: 10.1016/j.nrleng.2025.10.002
J. Oltra-Cucarella , B. Bonete-López , E. Sitges-Maciá , C. Iñesta , M. Sánchez San-Segundo , M. Berbegal Bernabeu , M. Tomé Fernández , A. Zaragoza-Martí , B. Freilich , J.A. Hurtado Sánchez
Introduction
Screening tests are useful to identify cognitive impairments during aging. However, they need to assess different cognitive abilities and be easily accessible to researchers and clinicians. The objective of this work is to develop normative data for the population 55 years of age or older for the Attention, Memory and Frontal Abilities Screening Test (AMFAST).
Method
One-hundred and fifty-five cognitively healthy participants between 55 and 82 years old were assessed both with a comprehensive neuropsychological battery and the AMFAST. The ability of the AMFAST to identify objective cognitive impairment in the neuropsychological assessment was analysed using binary logistic regression, and sensitivity (Sen), specificity (Spe), and positive (PPV) and negative (NPV) predictive values were calculated. Normative data were developed using linear regression controlling for the effects of age, gender, and educational level.
Results
The AMFAST total score was statistically associated with age and education, but not with sex. Using 3 or more low scores as the criterion for objective cognitive impairment, the AMFAST total score was associated with the number of low scores on the neuropsychological battery (r = −0.33, p < .001), as well as with objective cognitive impairment (OR = 0.95, 95%CI: 0.92-0.98, p = .003). A total score lower than 74 was associated with Sen = 85.71%, Spe = 71.63%, PPV = 23.08%, and NPV = 98.06%.
Conclusions
As a simple and quick test, the AMFAST could help identify early objective cognitive impairment. Normative data of the Spanish adaptation of the AMFAST for its use in clinical and research are provided.
{"title":"Adaptation and norming of the Spanish version of the Attention, Memory and Frontal Abilities Test (AMFAST) for people aged 55 years and older","authors":"J. Oltra-Cucarella , B. Bonete-López , E. Sitges-Maciá , C. Iñesta , M. Sánchez San-Segundo , M. Berbegal Bernabeu , M. Tomé Fernández , A. Zaragoza-Martí , B. Freilich , J.A. Hurtado Sánchez","doi":"10.1016/j.nrleng.2025.10.002","DOIUrl":"10.1016/j.nrleng.2025.10.002","url":null,"abstract":"<div><h3>Introduction</h3><div>Screening tests are useful to identify cognitive impairments during aging. However, they need to assess different cognitive abilities and be easily accessible to researchers and clinicians. The objective of this work is to develop normative data for the population 55 years of age or older for the Attention, Memory and Frontal Abilities Screening Test (AMFAST).</div></div><div><h3>Method</h3><div>One-hundred and fifty-five cognitively healthy participants between 55 and 82 years old were assessed both with a comprehensive neuropsychological battery and the AMFAST. The ability of the AMFAST to identify objective cognitive impairment in the neuropsychological assessment was analysed using binary logistic regression, and sensitivity (Sen), specificity (Spe), and positive (PPV) and negative (NPV) predictive values were calculated. Normative data were developed using linear regression controlling for the effects of age, gender, and educational level.</div></div><div><h3>Results</h3><div>The AMFAST total score was statistically associated with age and education, but not with sex. Using 3 or more low scores as the criterion for objective cognitive impairment, the AMFAST total score was associated with the number of low scores on the neuropsychological battery (<em>r</em> = −0.33, <em>p</em> < .001), as well as with objective cognitive impairment (OR = 0.95, 95%CI: 0.92-0.98, <em>p</em> = .003). A total score lower than 74 was associated with Sen = 85.71%, Spe = 71.63%, PPV = 23.08%, and NPV = 98.06%.</div></div><div><h3>Conclusions</h3><div>As a simple and quick test, the AMFAST could help identify early objective cognitive impairment. Normative data of the Spanish adaptation of the AMFAST for its use in clinical and research are provided.</div></div>","PeriodicalId":94155,"journal":{"name":"Neurologia","volume":"40 9","pages":"Pages 813-821"},"PeriodicalIF":0.0,"publicationDate":"2025-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145254384","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2025-11-01DOI: 10.1016/j.nrleng.2025.10.006
R. Piñar-Morales , P.A. Guirado-Ruiz , F.J. Barrero Hernández
Introduction
Fatigue in multiple sclerosis (MS) is defined as the lack of physical and/or mental energy perceived by the individual that interferes with normal activities. It is the most common symptom in MS, present in up to 90% of people with MS. Fatigue along with disability, depression, cognitive impairment, and disease-modifying therapy (DMT) affect quality of life (QoL).
Method
We designed a prospective observational study in patients with MS and DMT of moderate efficacy to assess the association between fatigue and the epidemiological, clinical, and pharmacological aspects that influence in the QoL. We analysed variables related to patients, disability, fatigue (MFIS), clinical and radiological activity, depression (BDI), cognitive impairment (SDMT), and QoL (EQ-5D).
Results
we included 91 people, 65.9% women, mean age 43.9 years. The DMT were: 27.4% interferon-β, 15.38% glatiramer acetate, 9.89% teriflunomide, and 47.25% dimethyl fumarate. The median of the EDSS was 1.5 points. 40.9% have presented fatigue, 36.3% cognitive deterioration and 30.7% of the patients depression.
Conclusions
Patients with fatigue are older, more disabled, have a higher prevalence of depression and worse QoL. Evolution time, relapses, MRI lesion load, and DMTs are not associated with fatigue. Fatigue is a frequent symptom in patients with MS that influences in the QoL, hence the importance of its diagnosis and treatment.
{"title":"Impact of fatigue on quality of life in adults with multiple sclerosis","authors":"R. Piñar-Morales , P.A. Guirado-Ruiz , F.J. Barrero Hernández","doi":"10.1016/j.nrleng.2025.10.006","DOIUrl":"10.1016/j.nrleng.2025.10.006","url":null,"abstract":"<div><h3>Introduction</h3><div>Fatigue in multiple sclerosis (MS) is defined as the lack of physical and/or mental energy perceived by the individual that interferes with normal activities. It is the most common symptom in MS, present in up to 90% of people with MS. Fatigue along with disability, depression, cognitive impairment, and disease-modifying therapy (DMT) affect quality of life (QoL).</div></div><div><h3>Method</h3><div>We designed a prospective observational study in patients with MS and DMT of moderate efficacy to assess the association between fatigue and the epidemiological, clinical, and pharmacological aspects that influence in the QoL. We analysed variables related to patients, disability, fatigue (MFIS), clinical and radiological activity, depression (BDI), cognitive impairment (SDMT), and QoL (EQ-5D).</div></div><div><h3>Results</h3><div>we included 91 people, 65.9% women, mean age 43.9 years. The DMT were: 27.4% interferon-β, 15.38% glatiramer acetate, 9.89% teriflunomide, and 47.25% dimethyl fumarate. The median of the EDSS was 1.5 points. 40.9% have presented fatigue, 36.3% cognitive deterioration and 30.7% of the patients depression.</div></div><div><h3>Conclusions</h3><div>Patients with fatigue are older, more disabled, have a higher prevalence of depression and worse QoL. Evolution time, relapses, MRI lesion load, and DMTs are not associated with fatigue. Fatigue is a frequent symptom in patients with MS that influences in the QoL, hence the importance of its diagnosis and treatment.</div></div>","PeriodicalId":94155,"journal":{"name":"Neurologia","volume":"40 9","pages":"Pages 864-874"},"PeriodicalIF":0.0,"publicationDate":"2025-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145260383","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2025-11-01DOI: 10.1016/j.nrleng.2025.08.001
L. Busteed , A. Horta-Barba , A. Reig , C. García-Sánchez , B. Pascual-Sedano , I. Gich , P. Roy Ciffone , J. Kulisevsky , J. Pagonabarraga
Introduction
Speech and language disturbances are very frequent in progressive supranuclear palsy (PSP). Therefore, they are part of the diagnostic criteria set forth by the International Parkinson and Movement Disorder Society (MDS) for the disease and are considered a core clinical feature. However, more studies are needed to characterize the linguistic profile of PSP, thus being able to assist in the differential diagnosis. Additionally, studies assessing linguistic differences among PSP phenotypes are needed. The objective of this study is to analyze the language alterations presented by patients with PSP, as well as its different phenotypes, and differentiate them from those presented in patients with Parkinson's disease (PD).
Methods
An extensive cognitive and linguistic assessment was administered to 13 PSP patients, 19 PD patients and 19 healthy controls (HC) with similar sociodemographic features. Language assessment included evaluation of: syntactic processing, object naming, and phonetic and semantic fluencies. We included a subgroup of 6 PSP patients, 19 PD patients and 19 HC for further analysis of language. This analysis included, in addition to the general evaluation, the assessment of alternating fluency, comprehension, naming, automatic speech, repetition, object recognition, verbal and written instructions, writing to dictation, and oral expression.
Results
We found greater impairment on phonetic, semantic, and alternating fluencies, following verbal instructions, repetition, syntactic processing and writing (without phonetic paragraphia) in the PSP group compared to patients with PD and HC. Distinguishing linguistic features of PSP with a less marked reduction than the previously mentioned features were automatic speech, fluency of speech, and naming. Language analysis did not distinguish between PSP phenotypes.
Conclusions
Language disturbances distinguish PSP from PD and HC but were not able to discriminate PSP phenotypes.
{"title":"The discriminative linguistic profiles of progressive supranuclear palsy and Parkinson's disease","authors":"L. Busteed , A. Horta-Barba , A. Reig , C. García-Sánchez , B. Pascual-Sedano , I. Gich , P. Roy Ciffone , J. Kulisevsky , J. Pagonabarraga","doi":"10.1016/j.nrleng.2025.08.001","DOIUrl":"10.1016/j.nrleng.2025.08.001","url":null,"abstract":"<div><h3>Introduction</h3><div>Speech and language disturbances are very frequent in progressive supranuclear palsy (PSP). Therefore, they are part of the diagnostic criteria set forth by the International Parkinson and Movement Disorder Society (MDS) for the disease and are considered a core clinical feature. However, more studies are needed to characterize the linguistic profile of PSP, thus being able to assist in the differential diagnosis. Additionally, studies assessing linguistic differences among PSP phenotypes are needed. The objective of this study is to analyze the language alterations presented by patients with PSP, as well as its different phenotypes, and differentiate them from those presented in patients with Parkinson's disease (PD).</div></div><div><h3>Methods</h3><div>An extensive cognitive and linguistic assessment was administered to 13 PSP patients, 19 PD patients and 19 healthy controls (HC) with similar sociodemographic features. Language assessment included evaluation of: syntactic processing, object naming, and phonetic and semantic fluencies. We included a subgroup of 6 PSP patients, 19 PD patients and 19 HC for further analysis of language. This analysis included, in addition to the general evaluation, the assessment of alternating fluency, comprehension, naming, automatic speech, repetition, object recognition, verbal and written instructions, writing to dictation, and oral expression.</div></div><div><h3>Results</h3><div>We found greater impairment on phonetic, semantic, and alternating fluencies, following verbal instructions, repetition, syntactic processing and writing (without phonetic paragraphia) in the PSP group compared to patients with PD and HC. Distinguishing linguistic features of PSP with a less marked reduction than the previously mentioned features were automatic speech, fluency of speech, and naming. Language analysis did not distinguish between PSP phenotypes.</div></div><div><h3>Conclusions</h3><div>Language disturbances distinguish PSP from PD and HC but were not able to discriminate PSP phenotypes.</div></div>","PeriodicalId":94155,"journal":{"name":"Neurologia","volume":"40 9","pages":"Pages 830-839"},"PeriodicalIF":0.0,"publicationDate":"2025-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145435248","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2025-11-01DOI: 10.1016/j.nrleng.2025.10.001
T. Julio-Ramos , V. Mora-Castelleto , C. Foncea-González , C. Adames-Valencia , I. Cigarroa , C. Méndez-Orellana , D. Toloza-Ramirez
Introduction
Alzheimer's disease (AD) reports heterogeneity of neuropsychological symptoms misleading the differential diagnosis with other forms of dementia, such as dementia with Lewy bodies (DLB). About 50% of DLB patients are misdiagnosed as AD cases. Likewise, the diagnosis of both diseases is mainly based on clinical characteristics. However, differentiating AD of those with DLB based on neuropsychological symptoms and anatomical and functional brain changes remains challenging.
Aim
To establish the main neuropsychological, anatomical, and functional similarities and differences in patients with AD and DLB.
Methods
The present study followed the PRISMA guidelines and included studies from the PubMed, Scopus, and Web of Sciences databases, published between January 2000 and July 2022.
Results
41 articles were included in this systematic review for critical analysis. Our results suggest that the cognitive key domains to consider in the differential diagnosis are memory, executive function, attention, visuospatial/visuoconstructive skills, and verbal fluency (both semantic and phonological). The stage and severity of both diseases would be essential for differential diagnosis. On the other hand, the anatomical and functional changes suggest a similar atrophy pattern between AD and DLB in the frontal, parietal, temporal, hippocampal, and precuneus regions.
Conclusion
The differential diagnosis between AD and DLB is challenging in clinical practice. Therefore, our results suggest exploring cognitive linguistic markers along with correlating these markers with anatomical and functional brain changes.
导读：阿尔茨海默病（AD）报告了神经心理症状的异质性，误导了与其他形式的痴呆（如路易体痴呆（DLB））的鉴别诊断。约50%的DLB患者被误诊为AD病例。同样，这两种疾病的诊断主要基于临床特征。然而，根据神经心理症状和大脑解剖和功能变化来区分DLB患者的AD仍然具有挑战性。目的：探讨AD和DLB患者主要神经心理、解剖学和功能上的异同。方法：本研究遵循PRISMA指南，纳入了2000年1月至2022年7月期间发表的PubMed、Scopus和Web of Sciences数据库中的研究。结果：本系统综述纳入41篇文章进行批判性分析。我们的研究结果表明，在鉴别诊断中需要考虑的认知关键领域是记忆、执行功能、注意力、视觉空间/视觉构建技能和语言流畅性（包括语义和语音）。两种疾病的分期和严重程度对于鉴别诊断至关重要。另一方面，解剖和功能变化表明AD和DLB在额叶、顶叶、颞叶、海马和楔前叶区域有相似的萎缩模式。结论：AD与DLB的鉴别诊断在临床实践中具有挑战性。因此，我们的研究结果建议探索认知语言标记，并将这些标记与大脑的解剖和功能变化联系起来。
{"title":"Neuropsychological differential diagnosis of Alzheimer’s disease and Lewy body dementia: A systematic review","authors":"T. Julio-Ramos , V. Mora-Castelleto , C. Foncea-González , C. Adames-Valencia , I. Cigarroa , C. Méndez-Orellana , D. Toloza-Ramirez","doi":"10.1016/j.nrleng.2025.10.001","DOIUrl":"10.1016/j.nrleng.2025.10.001","url":null,"abstract":"<div><h3>Introduction</h3><div>Alzheimer's disease (AD) reports heterogeneity of neuropsychological symptoms misleading the differential diagnosis with other forms of dementia, such as dementia with Lewy bodies (DLB). About 50% of DLB patients are misdiagnosed as AD cases. Likewise, the diagnosis of both diseases is mainly based on clinical characteristics. However, differentiating AD of those with DLB based on neuropsychological symptoms and anatomical and functional brain changes remains challenging.</div></div><div><h3>Aim</h3><div>To establish the main neuropsychological, anatomical, and functional similarities and differences in patients with AD and DLB.</div></div><div><h3>Methods</h3><div>The present study followed the PRISMA guidelines and included studies from the PubMed, Scopus, and Web of Sciences databases, published between January 2000 and July 2022.</div></div><div><h3>Results</h3><div>41 articles were included in this systematic review for critical analysis. Our results suggest that the cognitive key domains to consider in the differential diagnosis are memory, executive function, attention, visuospatial/visuoconstructive skills, and verbal fluency (both semantic and phonological). The stage and severity of both diseases would be essential for differential diagnosis. On the other hand, the anatomical and functional changes suggest a similar atrophy pattern between AD and DLB in the frontal, parietal, temporal, hippocampal, and precuneus regions.</div></div><div><h3>Conclusion</h3><div>The differential diagnosis between AD and DLB is challenging in clinical practice. Therefore, our results suggest exploring cognitive linguistic markers along with correlating these markers with anatomical and functional brain changes.</div></div>","PeriodicalId":94155,"journal":{"name":"Neurologia","volume":"40 9","pages":"Pages 884-914"},"PeriodicalIF":0.0,"publicationDate":"2025-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145254318","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2025-11-01DOI: 10.1016/j.nrleng.2025.08.004
R. Baviera-Muñoz , T. Jaijo , M. Campins-Romeu , I. Martínez-Torres , I. Sastre-Bataller
{"title":"Complex dystonia in an adolescent male with a MECP2 variant","authors":"R. Baviera-Muñoz , T. Jaijo , M. Campins-Romeu , I. Martínez-Torres , I. Sastre-Bataller","doi":"10.1016/j.nrleng.2025.08.004","DOIUrl":"10.1016/j.nrleng.2025.08.004","url":null,"abstract":"","PeriodicalId":94155,"journal":{"name":"Neurologia","volume":"40 9","pages":"Pages 924-925"},"PeriodicalIF":0.0,"publicationDate":"2025-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145435362","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
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