Parkinsonism & related disorders最新文献

{"title":"Closing the loop in DBS: A data-driven approach.","authors":"Prerana Acharyya, Kerry W Daley, Jin Woo Choi, Kevin B Wilkins, Shreesh Karjagi, Chuyi Cui, Gang Seo, Annie K Abay, Helen M Bronte-Stewart","doi":"10.1016/j.parkreldis.2025.107348","DOIUrl":"https://doi.org/10.1016/j.parkreldis.2025.107348","url":null,"abstract":"<p><p>Deep brain stimulation (DBS) has transformed the treatment of movement disorders like Parkinson's Disease (PD). Innovations in DBS technology and experimentation have fostered adaptive DBS (aDBS), which employs a closed-loop system that senses physiological biomarkers to inform precise neuromodulation and personalized therapy. This review analyzes several promising advances in aDBS, including biomarker detection, control policies, mechanisms of efficacy, and a data-driven approach using artificial intelligence to decode motor states from neural signals. Investigations into data-driven approaches have expanded biomarker detection beyond subcortical beta oscillations, leveraging other neural and kinematic signals. Future aDBS systems that accommodate multi-modal inputs have the potential to bolster therapeutic efficacy and address symptoms not addressed by beta-driven aDBS. Continuing investigation is necessary to address existing technical and computational challenges for further clinical translation.</p>","PeriodicalId":19970,"journal":{"name":"Parkinsonism & related disorders","volume":" ","pages":"107348"},"PeriodicalIF":3.1,"publicationDate":"2025-02-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143557665","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Are we ready for automated deep brain stimulation programming?","authors":"Eric R Cole, Svjetlana Miocinovic","doi":"10.1016/j.parkreldis.2025.107347","DOIUrl":"https://doi.org/10.1016/j.parkreldis.2025.107347","url":null,"abstract":"<p><p>Deep brain stimulation (DBS) requires individualized programming of stimulation parameters, a time-consuming process performed manually by clinicians with specialized training. This process limits DBS accessibility, delays treatment, and constrains the potential for next-generation technology to improve patient outcomes. This review describes technological advancements that could automate DBS programming, focusing on Parkinson's disease biomarkers that can provide objective outcome measurement and algorithms that can quickly and automatically identify optimal DBS settings. We first define key performance criteria for an automated programming system, including effectiveness, efficiency, and ease of use, and then describe and evaluate each component with respect to these criteria. We conclude that the state of current research provides a strong foundation for developing automated DBS programming. The primary remaining obstacle lies in identifying and deploying the best combination of available techniques that will overcome the high entry barrier needed for wide-scale clinical deployment and adoption.</p>","PeriodicalId":19970,"journal":{"name":"Parkinsonism & related disorders","volume":" ","pages":"107347"},"PeriodicalIF":3.1,"publicationDate":"2025-02-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143524116","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Can we detect cognitive “super-agers” in Parkinson's disease? Cognitive, neuropsychiatric and motor outcomes in the first 10 years of Parkinson's disease","authors":"Ruth Uribe-Kirby ,&nbsp;Alejandra Pawlak ,&nbsp;Lauren Pitman ,&nbsp;Gwenevere Zuniga ,&nbsp;Jacob D. Jones","doi":"10.1016/j.parkreldis.2025.107345","DOIUrl":"10.1016/j.parkreldis.2025.107345","url":null,"abstract":"<div><h3>Introduction</h3><div>Superagers are older individuals who resist age-related cognitive decline and who perform just as well or better than younger people in cognitive tasks. In healthy aging studies, superagers not only experience positive cognitive outcomes (e.g. lower risk of future mild cognitive impairment), but may also experience fewer depressive and anxiety symptoms as they age. We seek to identify superagers in Parkinson's disease (PD) and potential outcomes associated with superager status.</div></div><div><h3>Methods</h3><div>Data was gathered from the Parkinson's Progression Markers Initiative (PPMI). 689 individuals newly diagnosed with PD were assessed annually for up to 10 years. Participants were classified into three groups: superagers, cognitively normal, and PD mild cognitive impairment (PD-MCI). Multilevel models examined longitudinal group differences in global cognition, depression, anxiety, and motor severity.</div></div><div><h3>Results</h3><div>A significant main effect of group revealed that superagers performed better than the PD-MCI and cognitively normal groups in global cognition. There were significant group by time interactions, revealing the superagers group was on a more favorable longitudinal trajectory relative to other two groups. Superagers also reported less severe depressive and anxiety symptoms compared to the PD-MCI and the cognitively normal groups. Superagers had a more favorable trajectory of motor symptom severity relative to the cognitively normal and PD-MCI groups.</div></div><div><h3>Conclusion</h3><div>Superagers with PD may be detected with neuropsychological testing and appear to resist the effects of neurodegeneration in Parkinson's disease. Cognitive studies and trials may benefit from incorporating the concept of superagers, as opposed to a single homogenous cognitively normal group.</div></div>","PeriodicalId":19970,"journal":{"name":"Parkinsonism & related disorders","volume":"133 ","pages":"Article 107345"},"PeriodicalIF":3.1,"publicationDate":"2025-02-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143488465","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Daily variation in symptoms and functioning in Huntington disease: Feasibility and variability","authors":"Noelle E. Carlozzi ,&nbsp;Jonathan P. Troost ,&nbsp;Jennifer A. Miner ,&nbsp;Karandeep Singh ,&nbsp;Arjun A. Padmanabhan ,&nbsp;Wendy L. Lombard ,&nbsp;Praveen Dayalu","doi":"10.1016/j.parkreldis.2025.107346","DOIUrl":"10.1016/j.parkreldis.2025.107346","url":null,"abstract":"<div><h3>Introduction</h3><div>The day-to-day experience of symptoms and functioning are largely understudied in people with Huntington disease (HD). Real-world capture of day-to-day symptoms and functioning could be valuable as future HD outcome measures. Therefore, the purpose of this study was to 1) examine the feasibility of a weeklong intensive study design; and 2) understand the daily variation of symptoms and functioning in individuals with premanifest and manifest HD.</div></div><div><h3>Methods</h3><div>During this 8-day study, 52 individuals with HD completed real-time symptom reports 3 times each day (chorea, sleep, fatigue, anxiety), wore a wrist-worn device (PRO-Diary sleep and physical activity), and completed daily diaries of symptoms (chorea, sleep, fatigue, anger, depression, anxiety) and functioning (physical activity, speech/swallowing, and social participation) each night. We examined rates of missing data, and multilevel models were used to analyze data.</div></div><div><h3>Results</h3><div>Rates of missing data were 23–52 % for the real-time symptom reports and 19–35 % for the daily diaries. Average PRO-Diary wear compliance was 64 % for manifest and 67 % for pre-manifest HD for sleep, and 71 % for pre-manifest and 78 % for manifest HD for physical activity. Within-subject variability was greater over the week (day-to-day median range 1.9–4.4 SDs) than over the day (within-a-day median range 0–2 SDs). Associations between baseline and real-time reports of the same constructs were generally consistent.</div></div><div><h3>Conclusions</h3><div>Rates of missing data were consistent with similar study designs in other clinical populations, supporting feasibility. Missingness was highest for the real-time symptom reports. HD participants experienced more day-to-day variation in symptoms and function, with less variability within a day, suggesting that once-daily assessments may suffice.</div></div>","PeriodicalId":19970,"journal":{"name":"Parkinsonism & related disorders","volume":"133 ","pages":"Article 107346"},"PeriodicalIF":3.1,"publicationDate":"2025-02-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143518859","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A case series of nine patients with cerebrotendinous xanthomatosis from India and a systematized review of Indian literature","authors":"Farsana Mustafa ,&nbsp;Thrupthi Km ,&nbsp;Ayush Agarwal ,&nbsp;Jacky Ganguly ,&nbsp;Suvorit Subhas Bhowmick ,&nbsp;Ajay Garg ,&nbsp;Shariq Ahmad Shah ,&nbsp;Hrishikesh Kumar ,&nbsp;Soutrik Das ,&nbsp;Achal Kumar Srivastava ,&nbsp;Shailesh B. Gaikwad ,&nbsp;Divyani Garg","doi":"10.1016/j.parkreldis.2025.107331","DOIUrl":"10.1016/j.parkreldis.2025.107331","url":null,"abstract":"<div><h3>Introduction</h3><div>Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive congenital disorder of bile acid metabolism resulting from variants in the <em>CYP27A1</em> gene. CTX presents with heterogenous clinical features. Descriptions from diverse populations remain sparse, particularly from the Indian subcontinent.</div></div><div><h3>Methods</h3><div>We report a case series of nine Indian patients with CTX, accompanied by a systematized review of Indian literature.</div></div><div><h3>Results</h3><div>Our case series revealed inter- and intrafamilial heterogeneity. Our review of 36 published cases revealed that most Indian patients presented with neurobehavioral syndromes and spastic ataxia, and parkinsonism and dystonia were considerably rare; 34/36 cases eventually developed cataract, usually in childhood, which was a ‘tell-tale’ sign. Radiological findings revealed striking dentate T2/FLAIR hyperintensities, periventricular white matter involvement, and involvement of the corticospinal tract, and could detect clinically invisible tendon xanthomas. Missense and frameshift truncation variants were most common in the Indian literature, with the c.525delG variant being encountered most frequently. Several patients received a clinico-radiological/histopathological diagnosis as genetic testing was not performed in all patients. Most patients received ursodeoxycholic acid although it is ineffective in the treatment of CTX.</div></div><div><h3>Conclusion</h3><div>CTX is a not-to-be-missed treatable ataxia syndrome with heterogeneous clinical features. Parkinsonism and dystonia seem to be less prevalent in Indian cases compared to world literature. Our review also highlights the difficulty in access to, availability of and the urgent need to provide chenodeoxycholic acid in our region, reflected in the small fraction of patients who received this definite treatment despite the ‘reversible’ nature of the disease.</div></div>","PeriodicalId":19970,"journal":{"name":"Parkinsonism & related disorders","volume":"133 ","pages":"Article 107331"},"PeriodicalIF":3.1,"publicationDate":"2025-02-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143453847","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Waking up to the role of sleep disturbances in freezing of gait among people with Parkinson's disease","authors":"Jennifer Zitser ,&nbsp;Talia Herman ,&nbsp;Nir Giladi ,&nbsp;Jeffrey M. Hausdorff","doi":"10.1016/j.parkreldis.2025.107342","DOIUrl":"10.1016/j.parkreldis.2025.107342","url":null,"abstract":"","PeriodicalId":19970,"journal":{"name":"Parkinsonism & related disorders","volume":"133 ","pages":"Article 107342"},"PeriodicalIF":3.1,"publicationDate":"2025-02-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143483814","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Convergence insufficiency and Parkinson's disease progression","authors":"Alba Herrero-Gracia ,&nbsp;Rosa Hernández-Andrés ,&nbsp;María José Luque ,&nbsp;Kenneth J. Ciuffreda ,&nbsp;M Amparo Díez-Ajenjo","doi":"10.1016/j.parkreldis.2025.107341","DOIUrl":"10.1016/j.parkreldis.2025.107341","url":null,"abstract":"<div><h3>Background</h3><div>Parkinson's disease (PD) is a chronic, neurodegenerative disorder that significantly affects motor, sensory, and vision functions. Convergence insufficiency (CI) may be an indicator of PD progression. This study aimed to explore the relationship between CI and the stages of PD progression, as measured by the Hoehn and Yahr scale, and to compare the prevalence of CI and vision parameters between healthy individuals and PD patients.</div></div><div><h3>Methods</h3><div>Age-matched healthy controls (n = 97) and PD patients (n = 71) underwent medical history evaluations and vision assessments. Statistical analyses were conducted to compare CI prevalence across the Hoehn and Yahr stages between the control and PD groups. Binary logistic regression was used to evaluate the increase in CI prevalence as PD stages advanced.</div></div><div><h3>Results</h3><div>Significant differences in CI prevalence were noted between the control group (CG) and the PD group (PG), particularly in Stage III (p &lt; .001) and overall (p &lt; .001). The prevalence of CI increased with advancing PD stages (p &lt; .001). In Stage I, CI emerged as the only significant factor, while Stages II and III revealed significant differences in multiple vergence-related parameters. Logistic regression revealed increased odds of CI correlating with advancing Hoehn and Yahr stages (p &lt; .007).</div></div><div><h3>Conclusion</h3><div>A significant association was found between CI and PD progression. These findings underscore the importance of standardized assessment methods and the need for longitudinal research. Regular vision evaluations are essential for effectively managing CI and related vergence deficits in patients with PD.</div></div>","PeriodicalId":19970,"journal":{"name":"Parkinsonism & related disorders","volume":"133 ","pages":"Article 107341"},"PeriodicalIF":3.1,"publicationDate":"2025-02-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143436848","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"RHOBTB2-related paroxysmal hemiparesis: From alternating hemiplegia to hemiplegic migraine","authors":"Alice Innocenti ,&nbsp;Giacomo Garone ,&nbsp;Laura Papetti ,&nbsp;Camilla Rossi Espagnet ,&nbsp;Alessia Carboni ,&nbsp;Pasquale Parisi ,&nbsp;Massimiliano Valeriani ,&nbsp;Nicola Specchio","doi":"10.1016/j.parkreldis.2025.107340","DOIUrl":"10.1016/j.parkreldis.2025.107340","url":null,"abstract":"<div><div>We report a young patient harboring a <em>RHOBTB2</em> likely pathogenic variant with recurrent episodes of headache, dysautonomia and hemiplegia consistent with hemiplegic migraine. Such episodes were responsive to flunarizine prophylaxis. Ictal MRI showed contralateral hemispheric hypoperfusion.</div><div>This report expands <em>RHOBTB2</em> spectrum to include hemiplegic migraine and provides insight into the pathophysiology of hemiplegic attacks in this condition.</div></div>","PeriodicalId":19970,"journal":{"name":"Parkinsonism & related disorders","volume":"133 ","pages":"Article 107340"},"PeriodicalIF":3.1,"publicationDate":"2025-02-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143474471","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Hypokinetic-rigid gait disorders with balance impairment - A walk through clinical and pathophysiological definitions","authors":"Constança Jalles ,&nbsp;Daniela Guerreiro ,&nbsp;Filipa Pona-Ferreira ,&nbsp;Rita M. Simões ,&nbsp;Sofia Reimão ,&nbsp;Joaquim J. Ferreira","doi":"10.1016/j.parkreldis.2025.107339","DOIUrl":"10.1016/j.parkreldis.2025.107339","url":null,"abstract":"<div><div>Hypokinetic-rigid gait disorders with balance impairment are a common clinical phenotype of different syndromes and diseases. However, multiple designations are used across the literature with unclear definitions, which brings heterogeneity and subjectivity to the discussion of such gait disorders. Therefore, there is a need for clear concepts to increase accuracy in clinical diagnosis and allow consistent comparisons and reasoning within research data. We performed a review of concepts, including lower body parkinsonism (LBP), higher level gait disorders, frontal gait disorders, gait apraxia, senile gait and cautious gait. Additionally, we reviewed the basic pathophysiological mechanisms underlying these gait disorders.</div><div>LBP was found to be mainly associated with dysfunction of the motor thalamocortical circuit and of the mesencephalic locomotor region. We propose that for research purposes, concepts with greater specificity, such as LBP, should be preferentially used to improve the accuracy of studies involving this population. Considering the significant phenotypic and pathophysiological overlap between hypokinetic-rigid gait disorders, a multi-modal approach would be more pertinent to optimize the differential diagnosis in both clinical and research settings.</div></div>","PeriodicalId":19970,"journal":{"name":"Parkinsonism & related disorders","volume":"133 ","pages":"Article 107339"},"PeriodicalIF":3.1,"publicationDate":"2025-02-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143458947","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A case report of palatal tremor in progressive supranuclear palsy.","authors":"Paulo Cataniag, Jed Noel Ong, Cid Czarina Diesta","doi":"10.1016/j.parkreldis.2025.107324","DOIUrl":"https://doi.org/10.1016/j.parkreldis.2025.107324","url":null,"abstract":"<p><strong>Introduction: </strong>Progressive supranuclear palsy (PSP) is a sporadic, adult-onset neurodegenerative disease and the second most common form of neurodegenerative parkinsonism after idiopathic Parkinson's disease. Palatal tremor (PT), characterized by brief, involuntary, rhythmic contractions of the soft palate, is a rare movement disorder and an even more exceptional finding in PSP.</p><p><strong>Case report: </strong>We present an 85-year-old, Filipino male who manifested with progressive gait imbalance, postural instability leading to multiple falls, ocular motor dysfunction, axial rigidity, bradykinesia, and cognitive impairment. Supporting features were poor levodopa response and midbrain atrophy on brain imaging, particularly the \"hummingbird\" and \"morning glory\" signs. The clinic-radiographic findings were consistent with the diagnosis of probable PSP, particularly the Richardson's syndrome (PSP-RS). During the last consult, there was surprising new-onset palatal tremor in the soft palate and uvula, consisting of rhythmic, oscillatory involuntary movements with a rate of 2-3 Hz per second. Palatal tremor has only been recorded among three PSP cases in the literature (1991, 1997, 2015) as of this writing. Notably, his brain MRI did not show the classic hypertrophy of the inferior olivary nuclei, which is the usual feature of symptomatic PT. But instead, T2 hyperintensity of both inferior olivary nuclei was found.</p><p><strong>Conclusion: </strong>Reporting the presence of this rare movement disorder may raise awareness of the clinical diversity of PSP. Physicians must be diligent in habitually checking the mouth to uncover hidden abnormal movements of the tongue, soft palate and other structures.</p>","PeriodicalId":19970,"journal":{"name":"Parkinsonism & related disorders","volume":" ","pages":"107324"},"PeriodicalIF":3.1,"publicationDate":"2025-02-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143557664","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}