Parkinsonism & related disorders最新文献

{"title":"Misleading EEG in CACNA1A mutation: A case of late-onset episodic ataxia type 2","authors":"Yoon Seob Kim ,&nbsp;Tae-Joon Kim ,&nbsp;Jung Han Yoon ,&nbsp;Don Gueu Park","doi":"10.1016/j.parkreldis.2025.108051","DOIUrl":"10.1016/j.parkreldis.2025.108051","url":null,"abstract":"<div><h3>Background</h3><div>Episodic ataxia type 2 (EA2) is a rare, autosomal dominant paroxysmal neurological disorder caused by mutations in the <em>CACNA1A</em> gene. Its hallmark features include transient episodes of ataxia and dysarthria, often responsive to acetazolamide. However, misdiagnosis as epilepsy may occur due to overlapping electroencephalographic findings.</div></div><div><h3>Case presentation</h3><div>We report a 64-year-old woman with no prior history nor family history of neurological illness, who developed daily episodes of dysarthria and ataxic gait. Brain MRI did not show definite signs of cerebellar atrophy. Interictal EEG demonstrated sharp waves in the left temporal region, initially leading to a diagnosis of focal epilepsy. Despite trials of multiple antiseizure medications, symptoms worsened. Subsequent ictal EEG and SPECT showed no definitive seizure activity or clinical correlation. Genetic testing identified a heterozygous <em>CACNA1A</em> splice site variant (NM_001127222.2: c.2280-2A &gt; T), confirming EA2. Tapering of antiseizure therapy and initiation of acetazolamide resulted in sustained symptom resolution.</div></div><div><h3>Discussion</h3><div>This case underscores the diagnostic challenge posed by interictal EEG abnormalities in <em>CACNA1A</em>-related disorders. While such findings may suggest epilepsy, they can be misleading in the absence of clinical epileptic seizures. Recognition of EA2 and judicious use of genetic testing facilitated accurate diagnosis and effective treatment. Clinicians should be cautious in interpreting EEG in patients with paroxysmal neurologic symptoms and prioritize clinical correlation to avoid inappropriate therapy.</div></div>","PeriodicalId":19970,"journal":{"name":"Parkinsonism & related disorders","volume":"146 ","pages":"Article 108051"},"PeriodicalIF":3.4,"publicationDate":"2026-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145102773","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":"Expert commentary for misleading EEG in CACNA1A mutation: A case of late-onset Episodic Ataxia Type 2","authors":"Roberto Erro","doi":"10.1016/j.parkreldis.2026.108267","DOIUrl":"10.1016/j.parkreldis.2026.108267","url":null,"abstract":"","PeriodicalId":19970,"journal":{"name":"Parkinsonism & related disorders","volume":"146 ","pages":"Article 108267"},"PeriodicalIF":3.4,"publicationDate":"2026-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147366268","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":"Point of view: Task-specific movement disorders-time for a reappraisal?","authors":"Steven J Frucht","doi":"10.1016/j.parkreldis.2026.108326","DOIUrl":"https://doi.org/10.1016/j.parkreldis.2026.108326","url":null,"abstract":"","PeriodicalId":19970,"journal":{"name":"Parkinsonism & related disorders","volume":" ","pages":"108326"},"PeriodicalIF":3.4,"publicationDate":"2026-04-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147819415","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":"Expert comment for \"Myoclonus-dystonia due to novel mutation in the guanine nucleotide-binding protein (GNB1) gene\".","authors":"Patricia de Carvalho Aguiar","doi":"10.1016/j.parkreldis.2026.108338","DOIUrl":"https://doi.org/10.1016/j.parkreldis.2026.108338","url":null,"abstract":"","PeriodicalId":19970,"journal":{"name":"Parkinsonism & related disorders","volume":" ","pages":"108338"},"PeriodicalIF":3.4,"publicationDate":"2026-04-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147819498","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":"The influence of beta-amyloid and tau proteins on cognitive changes in Parkinson's disease.","authors":"Berit Abraham, Sophia Carl, Lan Ye, Florian Wegner, Matthias Höllerhage, Martin Schulze Westhoff, Felix Konen, Ishana V Schneidereit, Thomas Skripuletz, Martin Klietz","doi":"10.1016/j.parkreldis.2026.108332","DOIUrl":"https://doi.org/10.1016/j.parkreldis.2026.108332","url":null,"abstract":"<p><strong>Background: </strong>Parkinson's disease (PD) is the second most common neurodegenerative disorder after Alzheimer's dementia (AD), characterized by both motor and non-motor symptoms. Cognitive impairment is frequent and can progress to dementia. Early detection of cognitive dysfunction and timely intervention are crucial for maintaining quality of life. Identifying prognostic biomarkers for cognitive impairment therefore remains a key subject in PD research.</p><p><strong>Objective: </strong>This literature review examines the prognostic value of AD-associated cerebrospinal fluid (CSF) biomarkers (beta-amyloid 1-42, beta-amyloid 1-40, total tau, and phosphorylated tau) in relation to cognitive impairment in patients with PD.</p><p><strong>Methods: </strong>A systematic search was conducted in PubMed. Inclusion criteria required a formal diagnosis of PD, CSF analysis as well as cognitive testing. Studies without longitudinal data were excluded.</p><p><strong>Results: </strong>18 studies met the inclusion criteria, 11 of which utilized data from the Parkinson's Progression Markers Initiative (PPMI). Several studies demonstrated that lower CSF beta-amyloid 1-42 (Aβ42) levels and lower Aβ42:40 ratios were associated with faster cognitive decline. Findings for total tau and phosphorylated tau were inconsistent.</p><p><strong>Conclusion: </strong>Aβ and tau proteins show potential as biomarkers for cognitive decline in PD, but current evidence is insufficient to support their clinical use. Inconsistencies across studies, methodological variability and short follow-up periods limit their predictive value. Future research should include larger cohorts, standardized cognitive testing and extended follow-up periods to clarify their role.</p>","PeriodicalId":19970,"journal":{"name":"Parkinsonism & related disorders","volume":" ","pages":"108332"},"PeriodicalIF":3.4,"publicationDate":"2026-04-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147819439","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":"Expert commentary for \"Episodic cerebellar ataxia mimicking stroke - diagnostic and therapeutic lessons from SCA27B\".","authors":"Pablo Iruzubieta, Bernard Brais, David Pellerin","doi":"10.1016/j.parkreldis.2026.108329","DOIUrl":"https://doi.org/10.1016/j.parkreldis.2026.108329","url":null,"abstract":"","PeriodicalId":19970,"journal":{"name":"Parkinsonism & related disorders","volume":" ","pages":"108329"},"PeriodicalIF":3.4,"publicationDate":"2026-04-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147778260","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":"Expert commentary on \"A novel homozygous SQSTM1 frameshift variant in a Filipino adolescent with childhood-onset ataxia and gaze palsy\".","authors":"Shekeeb S Mohammad, Hugo Morales-Briceno","doi":"10.1016/j.parkreldis.2026.108328","DOIUrl":"https://doi.org/10.1016/j.parkreldis.2026.108328","url":null,"abstract":"","PeriodicalId":19970,"journal":{"name":"Parkinsonism & related disorders","volume":" ","pages":"108328"},"PeriodicalIF":3.4,"publicationDate":"2026-04-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147778289","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":"Episodic cerebellar ataxia mimicking stroke - diagnostic and therapeutic lessons from SCA27B.","authors":"Bruno Carvalho, Inês Margarido, Francisca Ferreira, Pedro Castro, Pedro Abreu, Carolina Soares","doi":"10.1016/j.parkreldis.2026.108303","DOIUrl":"https://doi.org/10.1016/j.parkreldis.2026.108303","url":null,"abstract":"","PeriodicalId":19970,"journal":{"name":"Parkinsonism & related disorders","volume":" ","pages":"108303"},"PeriodicalIF":3.4,"publicationDate":"2026-04-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147639237","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":"Real-world evaluation of Armstrong's criteria in corticobasal degeneration: Phenotypic overlap and diagnostic challenges","authors":"Ryuta Morihara ,&nbsp;Emi Nomura ,&nbsp;Yosuke Osakada,&nbsp;Taijun Yunoki,&nbsp;Mami Takemoto,&nbsp;Toru Yamashita,&nbsp;Hiroyuki Ishiura","doi":"10.1016/j.parkreldis.2026.108229","DOIUrl":"10.1016/j.parkreldis.2026.108229","url":null,"abstract":"<div><h3>Background</h3><div>Corticobasal degeneration (CBD) is a four-repeat tauopathy with heterogeneous clinical manifestations. Armstrong's criteria involve a two-step diagnostic approach: first, classifying patients into five clinical phenotypes—probable/possible corticobasal syndrome (CBS), frontal behavioral-spatial syndrome (FBS), non-fluent/agrammatic variant primary progressive aphasia (naPPA), and progressive supranuclear palsy syndrome (PSPS); second, determining whether they meet the clinical research criteria for probable CBD (cr-CBD) or the clinical criteria for possible CBD (p-CBD), which are distinct from the initial CBS classifications.</div></div><div><h3>Objective</h3><div>To investigate how real-world patients with suspected CBD fulfill Armstrong's clinical phenotypes and diagnostic criteria, and to compare clinical and imaging features between the Alzheimer's disease (AD) group and the non-AD group defined by CSF amyloid biomarkers.</div></div><div><h3>Methods</h3><div>We retrospectively reviewed 137 patients undergoing differential diagnosis for CBS, frontotemporal dementia, primary progressive aphasia, or PSPS. Of these, 78 met the criteria for cr-CBD (n = 36) or p-CBD (n = 42). CSF was examined in 32 patients, and based on the CSF Aβ42/40 ratio, patients were classified into an AD-group (AD-CBS; n = 6) and a non-AD group (n = 26).</div></div><div><h3>Results</h3><div>Among patients classified as cr-CBD or p-CBD, 79% fulfilled two or more clinical phenotypes, with FBS and PSPS most commonly. Compared with the AD group, the non-AD group showed more parkinsonian features and frontal hypoperfusion on [¹²³I]-IMP SPECT.</div></div><div><h3>Conclusion</h3><div>Armstrong's criteria captured a spectrum of overlapping clinical features. While helpful in clinical phenotyping, further validation with biomarkers is essential to distinguish CBD from AD and related disorders. Prospective studies with pathological confirmation are warranted.</div></div>","PeriodicalId":19970,"journal":{"name":"Parkinsonism & related disorders","volume":"145 ","pages":"Article 108229"},"PeriodicalIF":3.4,"publicationDate":"2026-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146147481","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":"Susceptibility mapping of deep gray matter in Wilson’s disease: A systematic review and meta-analysis","authors":"Laís Silva Santana ,&nbsp;Guilherme José da Costa Borsatto ,&nbsp;Marianna Leite ,&nbsp;Maressa Mouty Rabello ,&nbsp;Eberval Gadelha Figueiredo ,&nbsp;João Paulo Mota Telles","doi":"10.1016/j.parkreldis.2026.108235","DOIUrl":"10.1016/j.parkreldis.2026.108235","url":null,"abstract":"<div><div>Quantitative susceptibility mapping (QSM) enables assessment of brain metal deposition. This meta-analysis evaluated QSM alterations in Wilson's disease (WD). PubMed, Embase, and Web of Science were searched up to September 2025 for studies reporting QSM measurements in neurological or hepatic WD and healthy controls (HCs). Twelve studies were included (325 WD, 254 HCs). Neurological WD showed higher susceptibility than HCs in the caudate (mean difference [MD] = 33.92, 95% CI: 18.14–49.70, p &lt; .001), putamen (MD = 48.42, 95% CI: 29.66–67.17, p &lt; .001), globus pallidus (MD = 62.24, 95% CI: 39.74–84.73, p &lt; .001), thalamus (MD = 15.15, 95% CI: 10.15–20.15, p &lt; .001), red nucleus (MD = 30.25, 95% CI: 12.57–47.93, p &lt; .001), and dentate nucleus (MD = 16.65, 95% CI: 2.52–30.78, p = .02). Compared with hepatic-onset WD, neurological presentations showed higher susceptibility in the caudate nucleus (MD = 23.45, 95% CI: 1.17–45.73, p = .04), putamen (MD = 43.20, 95% CI: 2.62–83.78, p = .04), and thalamus (MD = 11.11, 95% CI: 7.53–14.69, p &lt; .001). Hepatic-onset WD showed milder increases versus HCs in the globus pallidus (MD = 18.13, 95% CI: 4.42–31.85, p = .01), red nucleus (MD = 16.87, 95% CI: 12.11–21.63, p &lt; .001) and dentate nucleus (MD = 11.61, 95% CI: 8.28–14.95, p &lt; .001). QSM reveals marked susceptibility elevations in neurological WD and mild changes in hepatic WD.</div></div><div><h3>Trial registration</h3><div>CRD420251232999, <span><span>https://www.crd.york.ac.uk/PROSPERO/view/CRD420251232999</span><svg><path></path></svg></span>.</div></div>","PeriodicalId":19970,"journal":{"name":"Parkinsonism & related disorders","volume":"145 ","pages":"Article 108235"},"PeriodicalIF":3.4,"publicationDate":"2026-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146195403","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}