Parkinsonism & related disorders最新文献_第5页

RHOBTB2-related paroxysmal hemiparesis: From alternating hemiplegia to hemiplegic migraine

IF 3.1 3区医学

Parkinsonism & related disorders Pub Date : 2025-02-14 DOI: 10.1016/j.parkreldis.2025.107340

Alice Innocenti , Giacomo Garone , Laura Papetti , Camilla Rossi Espagnet , Alessia Carboni , Pasquale Parisi , Massimiliano Valeriani , Nicola Specchio

引用次数: 0

Hypokinetic-rigid gait disorders with balance impairment - A walk through clinical and pathophysiological definitions

IF 3.1 3区医学

Parkinsonism & related disorders Pub Date : 2025-02-14 DOI: 10.1016/j.parkreldis.2025.107339

Constança Jalles , Daniela Guerreiro , Filipa Pona-Ferreira , Rita M. Simões , Sofia Reimão , Joaquim J. Ferreira

{"title":"Hypokinetic-rigid gait disorders with balance impairment - A walk through clinical and pathophysiological definitions","authors":"Constança Jalles , Daniela Guerreiro , Filipa Pona-Ferreira , Rita M. Simões , Sofia Reimão , 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}

引用次数: 0

A case report of palatal tremor in progressive supranuclear palsy.

IF 3.1 3区医学

Parkinsonism & related disorders Pub Date : 2025-02-13 DOI: 10.1016/j.parkreldis.2025.107324

Paulo Cataniag, Jed Noel Ong, Cid Czarina Diesta

{"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}

引用次数: 0

Commentary on "Atypical ADCY5-related movement disorders: Highlighting adolescent/adult-onset cervical dystonia".

IF 3.1 3区医学

Parkinsonism & related disorders Pub Date : 2025-02-13 DOI: 10.1016/j.parkreldis.2025.107327

Belén Ortuño-Yepes, Loreto Martorell, Judith Armstrong, Juan Darío Ortigoza-Escobar

引用次数: 0

Tardive dyskinesia versus tardive syndrome: The name matters

IF 3.1 3区医学

Parkinsonism & related disorders Pub Date : 2025-02-13 DOI: 10.1016/j.parkreldis.2025.107338

Deborah A. Hall MD PhD

引用次数: 0

Dentate calcifications with palatal tremor and facial myorhythmia in adult-onset Cerebral X-linked Adrenoleukodystrophy.

IF 3.1 3区医学

Parkinsonism & related disorders Pub Date : 2025-02-12 DOI: 10.1016/j.parkreldis.2025.107330

Riya Sharma, C V Sai Teja, Aditya Nayan, Manoj K Goyal, Karthik V Mahesh, Ritu Shree, Chirag K Ahuja, Sahil Mehta, Manish Modi

引用次数: 0

Cognitive measures predict falls in Parkinson's disease: Insights from the CYCLE-II cohort

IF 3.1 3区医学

Parkinsonism & related disorders Pub Date : 2025-02-11 DOI: 10.1016/j.parkreldis.2025.107328

Saar Anis , Eric Zimmerman , A. Elizabeth Jansen , Ryan D. Kaya , Hubert H. Fernandez , Cielita Lopez-Lennon , Leland E. Dibble , Anson B. Rosenfeldt , Jay L. Alberts

{"title":"Cognitive measures predict falls in Parkinson's disease: Insights from the CYCLE-II cohort","authors":"Saar Anis , Eric Zimmerman , A. Elizabeth Jansen , Ryan D. Kaya , Hubert H. Fernandez , Cielita Lopez-Lennon , Leland E. Dibble , Anson B. Rosenfeldt , Jay L. Alberts","doi":"10.1016/j.parkreldis.2025.107328","DOIUrl":"10.1016/j.parkreldis.2025.107328","url":null,"abstract":"<div><h3>Background</h3><div>Accurate prediction of falls in patients with Parkinson's disease (PWP) is crucial for effective prevention efforts. Historically, fall risk models have heavily relied on motor features, overlooking the vital cognitive-motor interplay essential for locomotion.</div></div><div><h3>Methods</h3><div>Baseline assessments and year-long fall data from the CYClical Lower Extremity Exercise for Parkinson's disease II (CYCLE-II) trial's control group were utilized. A LASSO logistic regression model assessed thirty-seven demographic, motor, and cognitive variables to identify key fall predictors. To explore the practical implementation of predicting falls in a clinical setting, a second model was developed using a subset of nine candidate measures conducive for retrieval from electronic medical records. Models' accuracy was validated against Paul et al.'s 3-step fall prediction model.</div></div><div><h3>Results</h3><div>Analysis included 123 participants (mean age 65.3 ± 8.3 years, 66 % males, mean disease duration 4.9 ± 4.1 years). Seventy-two participants (58.5 %) fell at least once; with 33.1 % occurring during walking, 34.4 % resulting in injuries. The initial model identified 8 predictors with an AUC of 0.68. The second model, incorporating disease duration and cognitive tests, achieved an AUC of 0.67, comparable to Paul et al.'s validation (AUC 0.66). Participants with poorer information processing and spatial memory were more prone to falling over the 12-month period.</div></div><div><h3>Conclusions</h3><div>Impaired cognitive performance and longer disease duration were powerful predictors in identifying a future fall in PWP. The link between cognitive performance and potential for falling reinforces the strong interplay between gait and cognition.</div></div>","PeriodicalId":19970,"journal":{"name":"Parkinsonism & related disorders","volume":"133 ","pages":"Article 107328"},"PeriodicalIF":3.1,"publicationDate":"2025-02-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143421375","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}

引用次数: 0

Infantile-onset choreo-dystonia due to a novel homozygous truncating HPCA variant: A first report from India.

IF 3.1 3区医学

Parkinsonism & related disorders Pub Date : 2025-02-11 DOI: 10.1016/j.parkreldis.2025.107329

Vikram V Holla, Sandeep Gurram, Sneha D Kamath, Nitish Kamble, Ravi Yadav, Pramod Kumar Pal

引用次数: 0

TAOK1-related neurodevelopmental disorder: A new differential diagnosis for childhood-onset tremor!

IF 3.1 3区医学

Parkinsonism & related disorders Pub Date : 2025-02-10 DOI: 10.1016/j.parkreldis.2025.107323

Magdalena Krygier , Monika Limanówka , Marta Pietruszka , Magdalena Chylińska , Maria Mazurkiewicz-Bełdzińska , Michael Zech

引用次数: 0

Eye movement disorders in genetic dystonia syndromes: A literature overview

IF 3.1 3区医学

Parkinsonism & related disorders Pub Date : 2025-02-10 DOI: 10.1016/j.parkreldis.2025.107325

Luca Pollini , Ilaria Pettenuzzo , Marina A.J. Tijssen , Lisette H. Koens , Tom J. De Koning , Vincenzo Leuzzi , Hendriekje Eggink

{"title":"Eye movement disorders in genetic dystonia syndromes: A literature overview","authors":"Luca Pollini , Ilaria Pettenuzzo , Marina A.J. Tijssen , Lisette H. Koens , Tom J. De Koning , Vincenzo Leuzzi , Hendriekje Eggink","doi":"10.1016/j.parkreldis.2025.107325","DOIUrl":"10.1016/j.parkreldis.2025.107325","url":null,"abstract":"<div><div>With the growing possibilities in genetic testing, the number of genetic disorders associated with dystonia has constantly increased over the last few years. Accurate phenotyping is crucial to guide and interpret genetic analyses in the search for an etiological diagnosis. Although eye movements examination has proven a valuable tool in the assessment of patients with inherited movement disorders such as ataxia or parkinsonism, less is known about the association between eye movement disorders and genetic dystonia. This study aimed to summarize the most frequent eye movement disorders in monogenetic forms of dystonia as classified by the Movement Disorders Society (MDS). More than sixty genetic disorders causing dystonia were repeatedly associated with eye movement disorders. Among these, 24 are classified as DYT genes, 22 were classified by MDS as having another prominent movement disorder, and 19 are genetic disorders that manifest with dystonia but are not included in the MDS classification. Six different eye movement disorders have consistently been reported (saccadic slowing and supranuclear gaze palsy, saccadic initiation failure and oculomotor apraxia, saccadic dysmetria, oculogyric crisis, nystagmus and ophthalmoplegia). The phenotypic association of each disorder with monogenic dystonic diseases, as well as the possible underlying pathophysiological mechanisms, is described here. Our findings suggest that eye movement disorders, along with the movement phenotype, may help delineate subgroups of dystonia by reflecting disruptions in specific brain networks. Therefore, eye movement examination is a crucial part of the neurological evaluation, providing valuable insights into patients with inherited forms of dystonia.</div></div>","PeriodicalId":19970,"journal":{"name":"Parkinsonism & related disorders","volume":"133 ","pages":"Article 107325"},"PeriodicalIF":3.1,"publicationDate":"2025-02-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143449907","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}

引用次数: 0