Movement Disorders最新文献

{"title":"Levodopa—An Oldie but a Goodie—Time to Make It Accessible to All in Sub‐Saharan Africa","authors":"Indu Subramanian, Njideka Okubadejo, Natasha Fothergill‐Misbah","doi":"10.1002/mds.30180","DOIUrl":"https://doi.org/10.1002/mds.30180","url":null,"abstract":"","PeriodicalId":213,"journal":{"name":"Movement Disorders","volume":"183 1","pages":""},"PeriodicalIF":8.6,"publicationDate":"2025-04-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143789860","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Antero-Lateral Subthalamic Nucleus Theta Stimulation Improves Verbal Fluency in Parkinson's Disease.","authors":"Hannah Schoenwald, Bahne H Bahners, Silja Kannenberg, Till A Dembek, Michael T Barbe, Dafina Sylaj, Anja Spiewok, Saskia Elben, Tomke Muettel, Jan Vesper, Philipp Slotty, Alfons Schnitzler, Stefan J Groiss","doi":"10.1002/mds.30185","DOIUrl":"https://doi.org/10.1002/mds.30185","url":null,"abstract":"<p><strong>Objective: </strong>Low-frequency deep brain stimulation (DBS) of the subthalamic nucleus (STN) has been associated with positive effects on verbal fluency (VF) in patients with Parkinson's disease. This prospective study investigates stimulation direction-dependent and site-specific effects of theta frequency DBS on VF.</p><p><strong>Methods: </strong>In a double-blind, cross-over design (n = 20), we tested VF during left subthalamic theta stimulation (stimulation-off, omnidirectional, and threedirectional stimulation conditions). DBS electrode localization and electric field calculations were performed (n = 18). Probabilistic sweet spot mapping identified voxels with significant change in VF.</p><p><strong>Results: </strong>Best directional stimulation improved VF performance significantly compared with the stimulation-off and omnidirectional stimulation condition. This effect followed a medial-to-anterolateral gradient with higher VF improvement observed on the border between the motor and associative subparts of the STN.</p><p><strong>Conclusion: </strong>We provide first proof-of-principle evidence that directional theta frequency DBS improves VF, possibly related to stimulation of the anterolateral STN. © 2025 The Author(s). Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.</p>","PeriodicalId":213,"journal":{"name":"Movement Disorders","volume":" ","pages":""},"PeriodicalIF":7.4,"publicationDate":"2025-04-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143762553","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Trajectories of Pontine Volume in Patients with Multiple System Atrophy.","authors":"Kazuya Kawabata, Florian Krismer, Mizuki Ito, Kazuhiro Hara, Epifanio Bagarinao, Vincent Beliveau, Patrice Péran, Germain Arribarat, Anne Pavy-Le Traon, Wassilios G Meissner, Alexandra Foubert-Samier, Margherita Fabbri, Mark Forrest Gordon, Aya Ogura, Masahisa Katsuno, Olivier Rascol, Christoph Scherfler, Klaus Seppi, Hirohisa Watanabe, Werner Poewe","doi":"10.1002/mds.30182","DOIUrl":"https://doi.org/10.1002/mds.30182","url":null,"abstract":"<p><strong>Objectives: </strong>To investigate trajectories of regional brain volume changes in multiple system atrophy (MSA) and their potential utility as surrogate markers of disease progression in the cerebellar subtype (MSA-C).</p><p><strong>Background: </strong>Reliable biomarkers for tracking disease progression in MSA are urgently needed. Although several studies have explored neuroimaging markers, imaging measures that are reliable and reproducible at the individual-level are lacking.</p><p><strong>Methods: </strong>Longitudinal three-dimensional (3D)-T1 images from multiple cohorts of 21 subjects with probable MSA-C, 19 with probable MSA-parkinsonian subtype (MSA-P), 113 with Parkinson's disease, and 227 healthy controls were processed using the FreeSurfer longitudinal pipeline. Extracted volumes were assessed for individual longitudinal trajectories, intra-individual variability, and pontine regional volume decline.</p><p><strong>Results: </strong>Pontine volumes showed lower intra-individual variability in measurements compared with other infratentorial brain regions. All probable MSA-C patients exhibited a decline in pontine volume, ranging from -3.6% to -16.8% per year (mean: -9.1%), falling more than two standard deviations below the mean of healthy controls. In MSA-C, the temporal dynamics of pontine volumes exhibited nonlinear changes, characterized by progressive atrophy in the earlier period of the disease, followed by a pre-plateau phase associated with advanced disability in the later period. Predictive modeling suggests that pontine atrophy may begin before symptom onset of MSA-C.</p><p><strong>Conclusions: </strong>Pontine volume is a sensitive marker of disease progression, exhibiting a nonlinear decline with low intra-individual variability in measurements and greater volume loss in the earlier stages, reaching a pre-plateau phase in the later stages with advanced disability. © 2025 The Author(s). Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.</p>","PeriodicalId":213,"journal":{"name":"Movement Disorders","volume":" ","pages":""},"PeriodicalIF":7.4,"publicationDate":"2025-04-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143762558","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Spinal Cord Stimulation Failed to Improve Parkinson's Disease Symptoms in Randomized Crossover Double-Blinded Evaluation.","authors":"Rafael Bernhart Carra, Lucas Ávila Lessa Garcia, Janaina Reis Menezes, Tamine Capato, Francielle Santos, Egberto Reis Barbosa, Kleber Paiva Duarte, Fabio Godinho, Manoel Jacobsen Teixeira, Daniel Ciampi de Andrade, Rubens Gisbert Cury","doi":"10.1002/mds.30187","DOIUrl":"https://doi.org/10.1002/mds.30187","url":null,"abstract":"<p><strong>Background: </strong>Epidural electrical spinal cord stimulation has been studied for more than a decade for Parkinson's disease symptoms, but compelling evidence for its effectiveness is still lacking.</p><p><strong>Objective: </strong>The aim of this study was to evaluate the effectiveness of spinal cord stimulation in Parkinson's disease.</p><p><strong>Methods: </strong>Participants had Parkinson's disease diagnosis, gait impairment and freezing of gait, and no pain. Paddle electrodes were implanted at the T2-T4 level. After 6 months of parameter selection, subthreshold and sham stimulation were compared through a double-blinded randomized evaluation and further compared with suprathreshold stimulation. A second 6- to 8-month period of parameter adjustment and a final long-term open evaluation followed. Outcomes were determined via Timed Up and Go (TUG), Movement Disorders Society Unified Parkinson's Disease Scale (MDS UPDRS) Part III, Mini BESTest, New Freezing of Gait Questionnaire, Parkinson's Disease Questionnaire 39, Fall Efficiency Scale International, and accelerometer-based gait analysis. Functional magnetic resonance imaging was also performed during the double-blind evaluation period.</p><p><strong>Results: </strong>This study was terminated for futility after eight patients underwent implantation and seven completed double-blind evaluations. TUG duration ON stimulation was median 11.59 (19.7-10.9) seconds on medication and 24.49 (48.1-13.7) seconds off medication, which was not statistically different from sham with 12.38 (13.7-11.8) and 16.93 (30-14.4) seconds on respective medication status. Likewise, no significant differences were found for MDS UPDRS Part III scores, respectively, ON active stimulation for 29 (33.5-23) and 42 (51-40) seconds and on sham 28 (30.5-26) and 50 (51.5-44) seconds. No effect from stimulation was identified in any other outcome.</p><p><strong>Conclusions: </strong>No effect of spinal cord stimulation in Parkinson's disease symptoms was identified. © 2025 International Parkinson and Movement Disorder Society.</p>","PeriodicalId":213,"journal":{"name":"Movement Disorders","volume":" ","pages":""},"PeriodicalIF":7.4,"publicationDate":"2025-04-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143762555","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Motor Cortex Disinhibition Correlates with Olfactory Dysfunction in Parkinson's Disease.","authors":"Claudia Ammann, Cristina Pagge, Emmanuelle Wilhelm, Chiara Galletti, Tamara Jimenez-Castellanos, Michele Matarazzo, Agustina Ruiz-Yanzi, Carmen Gasca-Salas, Raul Martínez-Fernández, Fernando Alonso-Frech, Antonio Oliviero, José A Obeso, Guglielmo Foffani","doi":"10.1002/mds.30171","DOIUrl":"https://doi.org/10.1002/mds.30171","url":null,"abstract":"<p><strong>Background: </strong>Motor cortex disinhibition, as measured by impaired short-interval intracortical inhibition (SICI) using transcranial magnetic stimulation (TMS), is a well-established feature of Parkinson's disease (PD). However, its substantial variability among patients remains unexplained, prompting questions about its origin, clinical relevance, and connection to disease heterogeneity.</p><p><strong>Objective: </strong>Based on biological links between olfaction and motor function, we aimed to investigate the possible relationship between motor cortex disinhibition and olfactory dysfunction in PD.</p><p><strong>Methods: </strong>We assessed motor cortex disinhibition, as measured by SICI, and olfactory dysfunction, as measured by the Sniffin' Stick Test 12 items (SST-12), in a new cohort of early-to-mid-stage PD patients (n = 45) and age-matched and gender-matched healthy controls (n = 35).</p><p><strong>Results: </strong>We obtained moderate-to-extreme Bayesian evidence that patients had the expected decrease of cortical inhibition and decrease of olfactory function, with neither feature correlating with the clinical motor severity. Cortical disinhibition and olfactory dysfunction were correlated, with strong-to-extreme evidence, both considering all subjects (n = 80), only healthy controls (n = 35), only patients (n = 45), or only levodopa-naïve patients (n = 20). We tested and excluded age as a possible confounding factor. The evidence from causal inference analysis supported a mediation role of PD that aligned more with an internal pathogenic mechanism than with an external one.</p><p><strong>Conclusion: </strong>These findings suggest that motor cortex disinhibition and olfactory dysfunction might be linked by a common early pathogenic process in PD. © 2025 The Author(s). Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.</p>","PeriodicalId":213,"journal":{"name":"Movement Disorders","volume":" ","pages":""},"PeriodicalIF":7.4,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143750372","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Plasma Biomarkers and Disease Prognosis in Mild Cognitive Impairment with Lewy Bodies","authors":"Paul C. Donaghy, Jahfer Hasoon, Calum A. Hamilton, Joanna Ciafone, Rory Durcan, Nicola Barnett, Kirsty Olsen, Sarah Lawley, Gemma Greenfinch, Michael Firbank, Amanda Heslegrave, Henrik Zetterberg, Louise Allan, John T. O'Brien, John‐Paul Taylor, Alan J. Thomas","doi":"10.1002/mds.30181","DOIUrl":"https://doi.org/10.1002/mds.30181","url":null,"abstract":"BackgroundLittle is known about the prognostic value of plasma biomarkers in mild cognitive impairment with Lewy bodies (MCI‐LB).ObjectivesTo investigate the association of four plasma biomarkers with disease progression in MCI.MethodsPlasma amyloid‐beta (Aβ)<jats:sub>42/40</jats:sub>, glial fibrillary acidic protein (GFAP), neurofilament light (NfL), and phosphorylated tau 181 (pTau181) were measured at baseline in a longitudinal MCI cohort (n = 131).ResultsBaseline plasma NfL was associated with increased risk of dementia/death in the entire cohort. In MCI‐LB, baseline plasma NfL, GFAP, and pTau181 were associated with increased risk of dementia/death and increased cognitive decline measured by the Addenbrooke's Cognitive Examination‐Revised.ConclusionspTau181, GFAP, and NfL are associated with more rapid disease progression in MCI‐LB and, with further validation, could be useful to support prognosis and stratification for clinical practice and treatment trials. Further work, including clinicopathological studies, is needed to understand the biological correlates of these markers in MCI‐LB. © 2025 The Author(s). <jats:italic>Movement Disorders</jats:italic> published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.","PeriodicalId":213,"journal":{"name":"Movement Disorders","volume":"72 1","pages":""},"PeriodicalIF":8.6,"publicationDate":"2025-03-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143736562","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Novel In-Frame FGF14 Deletion Causes Spinocerebellar Ataxia Type 27A: Clinical Response to Deep Brain Stimulation and 4-Aminopyridine.","authors":"Ignacio J Keller Sarmiento, Roberta Bovenzi, Morgan Kinsinger, Lisa Kinsley, Bernabe I Bustos, Dimitri Krainc, Niccolò E Mencacci","doi":"10.1002/mds.30183","DOIUrl":"https://doi.org/10.1002/mds.30183","url":null,"abstract":"<p><strong>Background: </strong>Spinocerebellar ataxia 27A (SCA27A) is a rare neurodegenerative disorder characterized by childhood-onset tremor and progressive cerebellar dysfunction. SCA27A is usually caused by loss-of-function FGF14 variants.</p><p><strong>Objectives: </strong>We report the identification of a novel FGF14 variant in a five-generation family with autosomal dominant ataxia and describe the clinical phenotype and response to subthalamic nucleus deep brain stimulation (STN-DBS) and 4-aminopyridine (4-AP).</p><p><strong>Methods: </strong>Whole genome sequencing was performed on the proband, two affected sisters (Patients 2 and 3), and one unaffected sister (III5). Sanger sequencing was performed to confirm the variant and sequence additional family members.</p><p><strong>Results: </strong>A novel heterozygous in-frame deletion (p.Val119del) in FGF14 was identified in this family affected by childhood-onset tremor followed by late-onset progressive ataxia. Two patients showed significant tremor reduction following STN-DBS and balance improvement with 4-AP.</p><p><strong>Conclusions: </strong>We identified a novel likely pathogenic FGF14 variant segregating in a family with SCA27A. Additionally, we suggest STN-DBS and 4-AP as promising treatment options for this condition. © 2025 The Author(s). Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.</p>","PeriodicalId":213,"journal":{"name":"Movement Disorders","volume":" ","pages":""},"PeriodicalIF":7.4,"publicationDate":"2025-03-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143741935","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Neurodegenerative and Neurodevelopmental Roles for Bulk Lipid Transporters VPS13A and BLTP2.","authors":"Sarah D Neuman, Rajan S Thakur, Scott J Gratz, Kate M O'Connor-Giles, Arash Bashirullah","doi":"10.1002/mds.30178","DOIUrl":"10.1002/mds.30178","url":null,"abstract":"<p><strong>Background: </strong>Bridge-like lipid transfer proteins (BLTPs) mediate bulk lipid transport at membrane contact sites. Mutations in BLTPs are linked to both early-onset neurodevelopmental and later-onset neurodegenerative diseases, including movement disorders. The tissue specificity and temporal requirements of BLTPs in disease pathogenesis remain poorly understood.</p><p><strong>Objective: </strong>The objective of this study was to determine tissue-specific and aging-dependent roles for VPS13A and BLTP2 using Drosophila models.</p><p><strong>Methods: </strong>We generated tissue-specific knockdowns of the VPS13A ortholog (Vps13) and the BLTP2 ortholog (hobbit) in neurons and muscles of Drosophila. We analyzed age-dependent locomotor behavior, neurodegeneration, and synapse development and function.</p><p><strong>Results: </strong>Neuron-specific loss of the VPS13A ortholog caused neurodegeneration followed by aging-dependent movement deficits and reduced lifespan, whereas muscle-specific loss affected only lifespan. In contrast, neuronal loss of the BLTP2 ortholog resulted in severe early-onset locomotor defects without neurodegeneration, whereas muscle loss impaired synaptogenesis and neurotransmission at the neuromuscular junction.</p><p><strong>Conclusions: </strong>VPS13A maintains neuronal survival, whereas BLTP2 orchestrates synaptic development. The phenotypic specificity of BLTP function provides mechanistic insights into distinct disease trajectories for BLTP-associated disorders. © 2025 The Author(s). Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.</p>","PeriodicalId":213,"journal":{"name":"Movement Disorders","volume":" ","pages":""},"PeriodicalIF":7.4,"publicationDate":"2025-03-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143727316","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Neuropsychological Tests of Memory, Visuospatial, and Language Function in Parkinson's Disease: Review, Critique, and Recommendations","authors":"Ondrej Bezdicek PhD,&nbsp;Roberta Biundo PhD,&nbsp;Sarai Boelema PhD,&nbsp;Davide Maria Cammisuli PhD,&nbsp;Brenna Cholerton PhD,&nbsp;Alice Cronin-Golomb PhD,&nbsp;John C. Dalrymple-Alford PhD,&nbsp;Annelien Duits PhD,&nbsp;Robert Fellows PhD,&nbsp;Adam Gerstenecker PhD,&nbsp;Hanane El Hachioui PhD,&nbsp;Hana Horáková PhD,&nbsp;Janneke Koerts PhD,&nbsp;Bonnie Levin PhD,&nbsp;Inga Liepelt-Scarfone PhD,&nbsp;Marina Sarno PsyD,&nbsp;Tiago A. Mestre PhD,&nbsp;Álvaro Sánchez Ferro MD, PhD,&nbsp;Michelle Hyczy de Siqueira Tosin PhD,&nbsp;Matej Skorvanek MD, PhD,&nbsp;Daniel Weintraub MD,&nbsp;Gert J. Geurtsen PhD,&nbsp;the members of the IPMDS Clinical Outcome Assessment Scientific Evaluation Committee","doi":"10.1002/mds.30166","DOIUrl":"10.1002/mds.30166","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Cognitive impairment in Parkinson's disease (PD) is a key non-motor complication during the disease course.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Objectives</h3>\u0000 \u0000 <p>A review of detailed cognitive instruments to detect mild cognitive impairment (PD-MCI) or dementia (PDD) is needed to establish optimal tests that facilitate diagnostic accuracy.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>We performed a systematic literature review of tests that assess memory, language including premorbid intelligence, and visuospatial domains (for tests of attention and executive functions see accompanying review) to determine suitability to assess cognition in PD. Based on in-depth scrutiny of psychometric and other relevant clinimetric properties, tests were rated as “recommended,” “recommended with caveats,” “suggested,” or “listed” by the International Parkinson and Movement Disorder Society (IPMDS) panel of experts according to the IPMDS Clinical Outcome Assessment Scientific Evaluation Committee guidelines.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>We included 39 tests encompassing 48 outcome measures. Seven tests (different versions or subtests of the test counted once) were recommended, including four for memory, one for visuospatial domains, one for language (including three measures), and one for estimated premorbid intelligence. Furthermore, 10 tests (12 measures) were “recommended with caveats,” 11 were “suggested,” and 11 (15 measures) were “listed.”</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>Recommended neuropsychological tests in memory, visuospatial functions, and language are proposed to guide the assessment of cognitive impairment and its progression in PD-MCI and PDD, and for use in clinical trials to stratify participants or as outcome measures. Novel measures being developed will need extensive validation research to be “recommended.” © 2025 The Author(s). <i>Movement Disorders</i> published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.</p>\u0000 </section>\u0000 </div>","PeriodicalId":213,"journal":{"name":"Movement Disorders","volume":"40 5","pages":"795-806"},"PeriodicalIF":7.4,"publicationDate":"2025-03-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/mds.30166","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143717598","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Artificial Intelligence-Based Virtual Assistant for the Diagnostic Approach of Chronic Ataxias","authors":"Lucas Alessandro MD,&nbsp;Nicolas Bianciotti MS,&nbsp;Luciana Salama MS,&nbsp;Santiago Volmaro MS,&nbsp;Veronica Navarrine MS,&nbsp;Lucia Ameghino MD,&nbsp;Julieta Arena MD,&nbsp;Santiago Bestoso MD,&nbsp;Veronica Bruno MD, MPH,&nbsp;Sergio Castillo Torres MD,&nbsp;Mauricio Chamorro MD,&nbsp;Blas Couto MD,&nbsp;Tomas De La Riestra MD,&nbsp;Florencia Echeverria MD,&nbsp;Juan Genco MD,&nbsp;Federico Gonzalez del Boca MD,&nbsp;Marlene Guarnaschelli MD,&nbsp;Juan Carlos Giugni MD,&nbsp;Alfredo Laffue MD,&nbsp;Viviana Martinez Villota MD,&nbsp;Alex Medina Escobar MD,&nbsp;Mauricio Paez Maggio MD,&nbsp;Sebastian Rauek MD,&nbsp;Sergio Rodriguez Quiroga MD,&nbsp;Marcela Tela MD,&nbsp;Carolina Villa MD,&nbsp;Olivia Sanguinetti BSE,&nbsp;Marcelo Kauffman MD, PhD,&nbsp;Diego Fernandez Slezak PhD,&nbsp;Mauricio F. Farez MD, MPH,&nbsp;Malco Rossi MD, PhD","doi":"10.1002/mds.30168","DOIUrl":"10.1002/mds.30168","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Chronic ataxias, a complex group of over 300 diseases, pose significant diagnostic challenges because of their clinical and genetic heterogeneity. Here, we propose that artificial intelligence (AI) can aid in the identification and understanding of these disorders through the utilization of a smart virtual assistant.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Objectives</h3>\u0000 \u0000 <p>The aim is to develop and validate an AI-powered virtual assistant for diagnosing chronic ataxias.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>A non-commercial virtual assistant was developed using advanced algorithms, decision trees, and large language models. In the validation process, 453 clinical cases from the literature were selected from 151 causes of chronic ataxia. The diagnostic accuracy was compared with that of 21 neurologists specializing in movement disorders and GPT-4. Usability regarding time and number of questions needed were also evaluated.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>The virtual assistant accuracy was 90.9%, higher than neurologists (18.3%), and GPT-4 (19.4%). It also significantly outperformed in causes of ataxia distributed by age, inheritance, frequency, associated clinical manifestations, and treatment availability. Neurologists and GPT-4 mentioned 110 incorrect diagnoses, 83.6% of which were made by GPT-4, which also generated seven data hallucinations. The virtual assistant required an average of 14 questions and 1.5 minutes to generate a list of differential diagnoses, significantly faster than the neurologists (mean, 19.4 minutes).</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>The virtual assistant proved to be accurate and easy fast-use for the diagnosis of chronic ataxias, potentially serving as a support tool in neurological consultation. This diagnostic approach could also be expanded to other neurological and non-neurological diseases. © 2025 International Parkinson and Movement Disorder Society.</p>\u0000 </section>\u0000 </div>","PeriodicalId":213,"journal":{"name":"Movement Disorders","volume":"40 5","pages":"906-916"},"PeriodicalIF":7.4,"publicationDate":"2025-03-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143676666","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}