Journal of Neurology最新文献

{"title":"Prevalence of infratentorial superficial siderosis in a large general population sample from the UK Biobank.","authors":"N Kharytaniuk, D Hikmat, H Ozkan, E A Lim, D E Bamiou, P Cowley, H R Jäger, D J Werring","doi":"10.1007/s00415-025-12965-w","DOIUrl":"10.1007/s00415-025-12965-w","url":null,"abstract":"<p><strong>Background: </strong>Classical infratentorial superficial siderosis (iSS) is considered a rare but potentially disabling neurological disorder. It results from slow chronic blood extravasation into the cerebrospinal fluid and deposition of the iron degradation product hemosiderin within the subpial layers of the central nervous system. Susceptibility-weighted (SW) magnetic resonance imaging (MRI) is the reference diagnostic modality. Few studies have described the population prevalence of cerebellar or infratentorial siderosis, and there are none from the UK population. The aim of this cross-sectional observational study was to estimate the prevalence of iSS in the UK Biobank sample using pre-defined radiological criteria.</p><p><strong>Methods: </strong>We reviewed SW MRIs of participants from the UK Biobank, looking for the radiological features of classical iSS: involvement of infratentorial structures (superior vermis, cerebellar folia, brainstem, or craniocervical junction). We calculated the point prevalence as the number of identified cases per total number of cases reviewed and 95% confidence intervals (CI) using Wilson's Score formula.</p><p><strong>Results: </strong>Of 10,305 SW MRIs reviewed, five cases with radiological features of iSS were identified demonstrating cerebellar/superior vermis involvement. The estimated prevalence of iSS was calculated as 48.5 (95%CI 20.7-113.5) cases per 100,000 population.</p><p><strong>Conclusions: </strong>This is the first study to estimate iSS prevalence in the UK population. The prevalence of iSS is higher than that reported for other rare neurological and neuro-otological disorders, suggesting an important unmet healthcare need for early diagnosis and targeted management strategies. Further studies are needed to determine the clinical associations and prognostic significance of radiologically defined iSS in the general population.</p>","PeriodicalId":16558,"journal":{"name":"Journal of Neurology","volume":"272 3","pages":"242"},"PeriodicalIF":4.8,"publicationDate":"2025-03-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11880185/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143542345","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Deep characterization of females with heterozygous Duchenne muscular dystrophy mutations.","authors":"Pietro Riguzzi, Daniele Sabbatini, Aurora Fusto, Sara Vianello, Beatrice Merlo, Vittoria Zangaro, Giuliana Capece, Domenico Gorgoglione, Gianni Sorarù, Riccardo Bariani, Chiara Calore, Barbara Bauce, Marika Martini, Anna Mutterle, Luca Bello, Elena Pegoraro","doi":"10.1007/s00415-025-12987-4","DOIUrl":"10.1007/s00415-025-12987-4","url":null,"abstract":"<p><strong>Objective: </strong>Duchenne muscular dystrophy (DMD) is an X-linked muscular dystrophy due to null mutations in the DMD gene that predominantly affects males, while heterozygous females are usually asymptomatic carriers. In approximately 10-20% of cases, they may present with muscle weakness and/or cardiomyopathy. We aimed to describe clinical and molecular characteristics of DMD heterozygous females.</p><p><strong>Methods: </strong>A monocentric, observational, and cross-sectional study was designed. Clinical and molecular data were collected along with, when available, muscle biopsies. The pattern of X inactivation was determined in peripheral blood and the genotypes at SPP1, LTBP4 and CD40 modifier genes were established.</p><p><strong>Results: </strong>We recruited 47 participants: 27 (57%) were asymptomatic and 20 (43%) manifested symptoms. Proximal muscles were prominently involved, as in male dystrophinopathies. Twenty % of carriers showed cardiac involvement. Creatine kinase (CK) values were in the normal range in ~ 20% of symptomatic and ~ 46% asymptomatic patients. In all muscle biopsies, a mosaic of dystrophin positive and negative fibers was observed that only marginally correlated to dystrophin amount. No correlation was found between X chromosome inactivation pattern and the severity of muscular involvement, nor any association with cardiomyopathy. No genotype-phenotype correlations were identified.</p><p><strong>Interpretation: </strong>Genotype/phenotype correlations in females heterozygous for DMD mutations are influenced by multiple mechanisms, of which better understanding will be crucial for future dystrophin gene replacement therapies. An earlier molecular identification is essential to lead to greater awareness of the potential cardiac complications, and hence the reinforcement of  appropriate cardiac follow-up.</p>","PeriodicalId":16558,"journal":{"name":"Journal of Neurology","volume":"272 3","pages":"244"},"PeriodicalIF":4.8,"publicationDate":"2025-03-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11880153/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143542341","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Predictors of achieving minimal manifestations or better status in ocular myasthenia gravis with immunotherapy.","authors":"Teppei Komatsu, Haruhiko Motegi, Masahiro Mimori, Motohiro Okumura, Marina Masui, Hiroyuki Kida, Masakazu Ozawa, Hiromasa Matsuno, Kenichi Sakuta, Keiko Bono, Kenichiro Sakai, Hidetaka Mitsumura, Yasuyuki Iguchi","doi":"10.1007/s00415-025-12993-6","DOIUrl":"10.1007/s00415-025-12993-6","url":null,"abstract":"<p><strong>Background: </strong>Ocular myasthenia gravis (MG), while less severe than generalized MG, significantly impairs quality of life due to its impact on vision and daily activities. Immunotherapy is a key treatment, yet the optimal timing for initiation remains undefined.</p><p><strong>Objective: </strong>To identify predictive factors for achieving minimal manifestations (MM) or better status in ocular MG patients receiving immunotherapy, with a focus on the role of early intervention.</p><p><strong>Methods: </strong>We conducted a retrospective analysis of 48 ocular MG patients treated at our institution. Patients were categorized based on whether they achieved MM or better status. Clinical variables were analyzed using univariate, receiver-operating characteristic, and multivariate logistic regression analyses.</p><p><strong>Results: </strong>MM or better status was achieved in 34/48 patients (median onset age: 55 years). Time from symptom onset to immunotherapy initiation was significantly shorter in those who achieved MM or better status (median: 30 days vs. 1095 days; p < 0.001). Receiver-operating characteristic analysis determined a 255-day cutoff for immunotherapy initiation, yielding sensitivity of 92.9% and specificity of 91.2% (AUC = 0.986, 95% CI: 0.962-1.000, p < 0.001). Logistic regression confirmed early immunotherapy as an independent predictor.</p><p><strong>Conclusions: </strong>Early initiation of immunotherapy (< 255 days from onset) significantly improves the likelihood of achieving MM or better status in ocular MG. These findings support the need for prompt diagnosis and treatment to optimize outcomes.</p>","PeriodicalId":16558,"journal":{"name":"Journal of Neurology","volume":"272 3","pages":"243"},"PeriodicalIF":4.8,"publicationDate":"2025-03-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143542343","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Tick-borne encephalitis in adults in Denmark: a nationwide prospective cohort study from 2015 to 2023.","authors":"Anna Maria Florescu, Thomas Bryrup, Carsten Schade Larsen, Lykke Larsen, Lothar Wiese, Hans Rudolf Lüttichau, Micha Phill Grønholm Jepsen, Birgitte Rønde Hansen, Christian Østergaard, Anja Vad Søndergaard, Peter H S Andersen, Lasse Skafte Vestergaard, Ria Lassaunière, Anders Fomsgaard, Bo Bødker Jensen, Jacob Bodilsen, Henrik Nielsen, Anne-Mette Lebech, Helene Mens","doi":"10.1007/s00415-025-12986-5","DOIUrl":"10.1007/s00415-025-12986-5","url":null,"abstract":"<p><strong>Background: </strong>Our aim was to characterize the clinical presentation and outcome in adults with tick-borne encephalitis (TBE) and to determine the incidence and test activity of TBE in Denmark.</p><p><strong>Methods: </strong>A nationwide prospective cohort study of all adults hospitalized with TBE at departments of infectious diseases in Denmark from 2015 to 2023. An age- and sex-matched cohort of herpes simplex virus type 1 (HSV-1) encephalitis patients was included to compare outcome.</p><p><strong>Results: </strong>Fifty-two patients with TBE were included. Median age was 50 years, 32/52 (62%) were men, 1/52 (2%) was fully vaccinated against TBE at the time of infection, 29/52 (56%) were infected in Denmark. Upon admission 25/52 (48%) had meningitis, 27/52 (52%) encephalitis, three of the latter 3/52 (6%) with additional myelitis or radiculitis. Admission to the intensive care unit 6/52 (12%) and death 2/52 (4%) were associated with pre-existing comorbidities and older age. At 3-month follow-up, 16/50 (32%) had an unfavorable outcome (Glasgow Outcome Scale score 1-4) compared to 39/52 (75%) in the HSV-1 cohort. The most common residual symptoms at 6-month follow-up or later were headache, cognitive impairment, and fatigue. The TBE incidence increased from 0.03/100,000 in 2015 to 0.48/100,000 in 2023, and the test rate from 5.5/100,000 in 2015 to 14.4/100,000 in 2023, with a positivity rate of 0.6% in 2015 and 3.3% in 2023.</p><p><strong>Conclusion: </strong>The incidence of TBE in Denmark increased in the study period, with clinical characteristics and outcome of adult patients comparable to reports from other European countries.</p>","PeriodicalId":16558,"journal":{"name":"Journal of Neurology","volume":"272 3","pages":"241"},"PeriodicalIF":4.8,"publicationDate":"2025-03-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11876282/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143542348","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Longitudinal analysis of retinal and choriocapillaris in patients with multiple sclerosis: a 3-year study.","authors":"Mihai Bostan, Chi Li, Jia Wei Cheong, Damon Wing Kee Wong, Bingyao Tan, Munirah Binte Ismail, Gerhard Garhöfer, Ruxandra Coroleuca, Leopold Schmetterer, Alina Popa-Cherecheanu, Jacqueline Chua","doi":"10.1007/s00415-025-12930-7","DOIUrl":"10.1007/s00415-025-12930-7","url":null,"abstract":"<p><strong>Objectives: </strong>This study investigated the longitudinal progression of retinal structure and microvasculature over 3 years in patients with relapsing-remitting multiple sclerosis (RRMS) using optical coherence tomography (OCT) and OCT angiography (OCTA). It also explored the correlation between these changes and the Expanded Disability Status Scale (EDSS) scores.</p><p><strong>Methods: </strong>In this prospective, longitudinal study, we enrolled 66 patients with RRMS without history of optic neuritis and 124 healthy controls. All participants underwent full ophthalmological examination, OCT/OCTA scans, and disability scoring (EDSS) at baseline and after 12 and 24 months. OCT data were analyzed for retinal layer thickness, while OCTA assessed microvascular perfusion in the retinal capillary plexuses and choriocapillaris. Statistical models evaluated yearly rates of change and their association with EDSS scores.</p><p><strong>Results: </strong>The patients with RRMS exhibited 3.6 times faster thinning of the inner plexiform layer (IPL; - 0.47 µm per year, P = 0.001) compared to controls over 3 years. Additionally, superficial retinal capillary layer perfusion density decreased more rapidly at - 0.44% per year (P = 0.006) in patients with MS. A strong correlation was found between worsening EDSS scores and accelerated ONL thinning (estimated coefficient: - 1.62 µm/per unit change of EDSS score, P = 0.004).</p><p><strong>Discussion: </strong>This study demonstrates progressive retinal neurodegeneration and microvascular dysfunction in patients with RRMS without a history of optic neuritis. The association between ONL thinning and increased disability supports the potential of OCT/OCTA as valuable tools for monitoring disease progression and severity in RRMS.</p>","PeriodicalId":16558,"journal":{"name":"Journal of Neurology","volume":"272 3","pages":"237"},"PeriodicalIF":4.8,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11872746/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143537290","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Reflexive and voluntary saccades as a proxy for bradykinesia and apathy in Parkinson's disease.","authors":"Fabian Rey, Damien Benis, Radek Ptak, Diego Kaski, Matthieu Béreau, René M Müri, Paul Krack, André Zacharia","doi":"10.1007/s00415-025-12973-w","DOIUrl":"10.1007/s00415-025-12973-w","url":null,"abstract":"<p><strong>Background: </strong>Parkinson's disease (PD) encompasses motor (e.g., bradykinesia) and non-motor (e.g., apathy) symptoms.</p><p><strong>Objective: </strong>We aimed to use reflexive and voluntary saccades as a proxy for bradykinesia and apathy.</p><p><strong>Methods: </strong>Seventeen PD patients and thirteen controls (matched for age and educational level) were recruited. We assessed apathy using the Dimensional Apathy Scale (DAS) and bradykinesia using MDS-UPDRS III. Subjects were asked to fixate successively two green points (cues, 40° apart) alternating at 1 Hz. After 20 s, all stimuli disappeared, and participants were required to continue fixating on the previous locations of the cues at the same frequency for another 20 s. We measured the Maximal Amplitude (MA) (saccade amplitude from side to side) and its period. Linear mixed models assessed the effect of the group (patient/control), cue, DAS, and bradykinesia score.</p><p><strong>Results: </strong>Overall, the DAS was similarly correlated to the period (p = 0.0157) and the MA (p = 0.0002) in the absence of a cue. However, this correlation was significant only in the patient subgroup for the MA (p = 0.0005). In the absence of cue, bradykinesia was similarly correlated to the period (p = .0001) and the MA (p = 0.0004). However, the period was better correlated to bradykinesia than the DAS.</p><p><strong>Conclusions: </strong>While the saccade period best correlates with bradykinesia, maximal amplitude in the absence of cue better reflects the severity of apathy. Our paradigm may be a promising objective biomarker for assessing bradykinesia and apathy in PD.</p>","PeriodicalId":16558,"journal":{"name":"Journal of Neurology","volume":"272 3","pages":"236"},"PeriodicalIF":4.8,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11872975/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143537292","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Chorea associated with vitamin B12 deficiency in adults: a case report and review of literature.","authors":"Rania Zouari, Amine Rachdi, Fatma Nabli, Dina Ben Mohamed, Mohamed Zakaria Saeid, Samia Ben Sassi","doi":"10.1007/s00415-025-12976-7","DOIUrl":"10.1007/s00415-025-12976-7","url":null,"abstract":"","PeriodicalId":16558,"journal":{"name":"Journal of Neurology","volume":"272 3","pages":"240"},"PeriodicalIF":4.8,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143537276","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Outcomes of deep brain stimulation surgery in the management of dystonia in glutaric aciduria type 1.","authors":"Daniel E Lumsden, Stavros Tsagkaris, Jon Cleary, Michael Champion, Helen Mundy, Abteen Mostofi, Harutomo Hasegawa, Verity M McClelland, Shakya Bhattacharjee, Monty Silverdale, Hortensia Gimeno, Keyoumars Ashkan, Richard Selway, Margaret Kaminska, Alexander Hammers, Jean-Pierre Lin","doi":"10.1007/s00415-025-12942-3","DOIUrl":"10.1007/s00415-025-12942-3","url":null,"abstract":"<p><strong>Objectives: </strong>Glutaric aciduria type 1 (GA1) is a rare autosomal recessive organic acidaemia caused by deficiency of the glutaryl-CoA dehydrogenase enzyme. We describe the outcomes following deep brain stimulation (DBS) for the management of dystonia of children and adults with glutaric aciduria type 1 (GA1).</p><p><strong>Methods: </strong>Cases with GA1 were identified from the institutional databases of two tertiary movement disorder services. Data were extracted from clinical records using a standardised proforma, including baseline clinical characteristics, imaging and neurophysiological findings, complications post-surgery, and outcomes as measured by the Burke-Fahn-Marsden Dystonia Rating Scale (BMFDRS) motor scores and the Canadian Occupation Performance Measure (COPM).</p><p><strong>Results: </strong>A total of 15 children were identified aged 3-17.5 with a median age of 11.5 years at neurosurgery, and one adult undergoing DBS aged 31 years. Baseline BMFDRS motor score ranged from 58.5-114, median 105. GMFCS-equivalence level was 5 (i.e. non-ambulant) for 10/16 cases. Surgery was tolerated in all cases without evidence of metabolic decompensation. BFMDRS motor score 1-year post-surgery ranged from 57.5-108.5 (median 97.25) and at last follow-up 57.5-112 (median 104) (no statistically significant change compared to baseline at either time point, P > 0.05). COPM data were available for 11/13 children and young people (CAYP). Clinically significant improvement was reported in 7/11 at 1 year and 8/11 at last follow-up. Four CAYP transitioned to adult services. Death occurred in three cases during follow-up, in no case related to DBS.</p><p><strong>Conclusion: </strong>DBS may be considered as a management option for children with GA1 who have appropriately selected goals for intervention.</p>","PeriodicalId":16558,"journal":{"name":"Journal of Neurology","volume":"272 3","pages":"234"},"PeriodicalIF":4.8,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11872982/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143537291","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Late-onset vestibulocerebellar ataxia: clinical and genetic studies in a long follow-up series of 50 patients.","authors":"David Genís, Berta Alemany, David Pellerin, Bernard Brais, Marie-Josée Dicaire, Víctor Volpini, Berta Campos, Jordi Corral, Josep Gardenyes, Laura de Jorge, Héctor San Nicolás, Maria Buxó, Joan Martínez Sancho, Maria Obon, Carles Roig, Laia Rodriguez-Revenga, María Isabel Alvarez-Mora, Matt C Danzi, Henry Houlden, Stephan Zuchner, Fabián Márquez, Lluís Ramió I Torrentà","doi":"10.1007/s00415-025-12964-x","DOIUrl":"10.1007/s00415-025-12964-x","url":null,"abstract":"<p><strong>Background: </strong>To describe the epidemiology, clinical features, degree of disability and genetic characteristics of a cohort of patients with a vestibulo-cerebellar ataxia of very late onset (LOVCA).</p><p><strong>Methods: </strong>We analysed the clinical, radiological, and genetic characteristics of a cohort of 50 patients with LOVCA. Where possible, patients were followed over the full course of the disease, including clinical, and molecular genetic analysis of genes known to cause episodic ataxia.</p><p><strong>Results: </strong>Ten patients are familial and 40 sporadic. Forty-three patients had an episodic onset, with episodes of gait ataxia characterized especially by sudden instability with downbeat nystagmus, visual symptoms, dizziness, and falls. Progression began on average 1.5 years after the onset of episodes. Of the patients followed over the full course of the disease, 87% became disabled. Women seem more prone to disability than men. An FGF14 intronic GAA repeat expansion was found in 61% of patients with available DNA. The prevalence of LOVCA is 5.03/10⁵ inhabitants. Treatment with 4-aminopyridine reduced the number and severity of episodes.</p><p><strong>Conclusion: </strong>LOVCA appears after the age of 50 and commonly leads to an inability to stand up and walk. The disease caused mild atrophy only in half of the patients and few changes were observed by MRI. The most common genetic cause was a heterozygous GAA expansion in FGF14 (SCA27B). One third of our patients have no aetiological diagnosis. Disability seems to be a result of the complete loss of the vestibulocerebellar function, which is presumably a result of degeneration of this system.</p>","PeriodicalId":16558,"journal":{"name":"Journal of Neurology","volume":"272 3","pages":"235"},"PeriodicalIF":4.8,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143537278","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Taste impairment in patients with Parkinsonism.","authors":"Qingyong Zhu, Han Liu, Jiuqi Wang, Renyi Feng, Mingming Ma, Xuejing Wang, Xuebing Ding","doi":"10.1007/s00415-025-12983-8","DOIUrl":"10.1007/s00415-025-12983-8","url":null,"abstract":"<p><strong>Background: </strong>Taste impairment is a prevalent issue among individuals with idiopathic Parkinson's disease (iPD). However, understanding taste disorders among different Parkinsonism remains incomplete. Our objective was to assess the incidence and severity of taste responses to sweet, salty, sour, bitter, and umami substances in patients with iPD, progressive supranuclear palsy (PSP), and multiple system atrophy (MSA).</p><p><strong>Methods: </strong>Taste function was evaluated by assessing the intensity ratings of four concentrations of sweet, salty, sour, bitter, and umami in 221 healthy controls (HCs), 251 iPD patients, 156 PSP patients, and 60 MSA patients. The Kruskal-Wallis one-way analysis was employed to discern differences in taste function among groups. Logistic regression models were utilized to analyze the association between disease severity and taste function.</p><p><strong>Results: </strong>Participants with iPD, PSP, and MSA exhibited lower total taste scores (TTS) compared to HCs (P < 0.0001, P < 0.0001, and P = 0.0002, respectively). The TTS was significantly lower in iPD patients compared to PSP and MSA patients (P = 0.0024 and P = 0.0464, respectively), with no discernible difference between PSP and MSA patients (P = 0.9998). Furthermore, in patients with iPD, both disease severity and gastrointestinal function exhibited a significant negative correlation with the TTS. However, the taste test lacked the potency to reliably distinguish iPD from PSP and MSA.</p><p><strong>Conclusions: </strong>These research findings suggest that taste impairment emerges as a phenotype of Parkinsonism, serving as a basis for differential diagnosis and guiding dietary adjustments for patients.</p>","PeriodicalId":16558,"journal":{"name":"Journal of Neurology","volume":"272 3","pages":"238"},"PeriodicalIF":4.8,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11872754/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143537293","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}