Parkinsonism & related disorders最新文献

{"title":"Comment on \"Defining 'OFF' time in device-aided therapy criteria for Parkinson's disease: Gaps and opportunities\".","authors":"Saraswati Sah, Rachana Mehta, Ranjana Sah","doi":"10.1016/j.parkreldis.2025.107955","DOIUrl":"https://doi.org/10.1016/j.parkreldis.2025.107955","url":null,"abstract":"","PeriodicalId":19970,"journal":{"name":"Parkinsonism & related disorders","volume":" ","pages":"107955"},"PeriodicalIF":3.1,"publicationDate":"2025-07-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144626912","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":"Letter to the editor regarding \"Cerebral amyloid angiopathy in patients with Dementia with Lewy Bodies: A clinical and hippocampal morphology study\" recently published by C. Hall and colleagues.","authors":"Polona Rus Prelog, Matija Zupan, Senta Frol","doi":"10.1016/j.parkreldis.2025.107952","DOIUrl":"https://doi.org/10.1016/j.parkreldis.2025.107952","url":null,"abstract":"","PeriodicalId":19970,"journal":{"name":"Parkinsonism & related disorders","volume":" ","pages":"107952"},"PeriodicalIF":3.1,"publicationDate":"2025-07-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144619719","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":"CPT1C-related Spastic-Ataxia: Expanding the clinical spectrum of SPG73","authors":"Jacky Ganguly , Sayoni Roychowdhury , Debayan Dutta , Soumava Mukherjee , Purba Basu , Hrishikesh Kumar","doi":"10.1016/j.parkreldis.2025.107946","DOIUrl":"10.1016/j.parkreldis.2025.107946","url":null,"abstract":"","PeriodicalId":19970,"journal":{"name":"Parkinsonism & related disorders","volume":"137 ","pages":"Article 107946"},"PeriodicalIF":3.1,"publicationDate":"2025-07-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144579299","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":"Clinical feature and alpha-synuclein level of restless legs syndrome with leucine-rich repeat kinase 2 encoding gene mutation","authors":"Xin Guo ,&nbsp;Pei Wang ,&nbsp;Yumeng Huang ,&nbsp;Jianfang Ma","doi":"10.1016/j.parkreldis.2025.107944","DOIUrl":"10.1016/j.parkreldis.2025.107944","url":null,"abstract":"<div><h3>Introduction</h3><div>Restless leg syndrome (RLS) has been reported associated with Parkinson's Disease (PD). However, it remained largely unknown of the mechanism underlying this association between RLS and PD.</div></div><div><h3>Methods</h3><div>199 idiopathic RLS and 114 PD were diagnosed and recruited by neurologists from Ruijin Hospital affiliated to Shanghai Jiao Tong University. And 273 health controls were recruited from community. Eight LRRK2 pathogenic variants were sequenced. Clinical data was collected including symptoms, comorbidities, family history, and iron level. ELISA was used to measure plasma level of α-synuclein.</div></div><div><h3>Results</h3><div>The G2385R variant was found significantly higher in PD group after Bonferroni correction (p = 0.018). Taking all LRRK2 mutations as one risk covariant, further logistic regression analysis showed a marginal association of LRRK2 with RLS (OR = 1.847, 95 %CI:1.022–3.337, p = 0.042) after adjusting age and gender. In terms of clinical feature, it was found that RLS-LRRK2 carriers usually reported a positive family history of neurological or psychiatric disorders including PD, RLS, dementia and depression (48.3 % vs 27.6 %)(p = 0.026) and a higher foot involvement of sensory symptoms (33.3 % vs 14.0 %)(p = 0.042). Plasma α-synuclein level in RLS (p = 0.021) and PD (p = 0.018) was both significantly increased compared to non-manifesting carriers.</div></div><div><h3>Conclusion</h3><div>Our study showed that LRRK2 mutation was associated with Chinese PD patients but only showed a possible trend of association with RLS. Positive neurological or psychiatric family history and foot discomfort in RLS were important features of indication of LRRK2 mutation in RLS. Plasma α-syn was increased in LRRK2-RLS as well as LRRK2-PD, indicating a possible association of RLS with PD in LRRK2 carriers.</div></div>","PeriodicalId":19970,"journal":{"name":"Parkinsonism & related disorders","volume":"138 ","pages":"Article 107944"},"PeriodicalIF":3.1,"publicationDate":"2025-07-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144604804","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":"Does duration Matter? Evaluating the impact of short- and long-term telemedicine in functional motor disorders","authors":"Angela Sandri ,&nbsp;Ilaria Antonella Di Vico ,&nbsp;Christian Geroin ,&nbsp;Federica Bombieri ,&nbsp;Vittoria Vandelli ,&nbsp;Michele Tinazzi ,&nbsp;Marialuisa Gandolfi","doi":"10.1016/j.parkreldis.2025.107948","DOIUrl":"10.1016/j.parkreldis.2025.107948","url":null,"abstract":"<div><h3>Introduction</h3><div>Functional motor disorders (FMDs) are chronic neurological conditions characterized by altered expectations, disrupted attention, and a sense of agency, requiring long-term management. While 12-week telemedicine programs have shown effectiveness, the optimal duration for sustaining benefits remains unclear. We therefore aim to compare the effects of an extended 24-week telemedicine program with a standard 12-week program in managing FMDs.</div></div><div><h3>Methods</h3><div>52 consecutive patients with FMDs completed a five-day intensive, multidisciplinary rehabilitation program followed by a standard 12-week telemedicine program. Participants were then allocated consecutively to either a self-management program without telemedicine support (control group, CG, n = 26) or an extended 24-week telemedicine program with biweekly sessions (experimental group, EG, n = 26). Motor and non-motor symptoms, Quality of Life (QoL), and self-perception of change were assessed at baseline (T0), after 12 weeks (T1), and 36 weeks (T2).</div></div><div><h3>Results</h3><div>Significant time effects were found for all outcomes except the Mental Health QoL. Significant Time × Group interaction was observed for TAS-20 (p &lt; 0.001), where the CG reported a reduction both at T1 (p = 0.003) and T2 (p &lt; 0.001), not observed in the EG. The CG reported a significant worsening in their self-perception of improvement at nine months (T2) compared to the EG (p = 0.015).</div></div><div><h3>Conclusions</h3><div>Extending the telemedicine program, even at a reduced biweekly frequency, may help sustain perceived improvements despite the absence of additional motor benefits. Such disconnection might be related to the strong role of altered expectations and attention within this disorder.</div></div>","PeriodicalId":19970,"journal":{"name":"Parkinsonism & related disorders","volume":"137 ","pages":"Article 107948"},"PeriodicalIF":3.1,"publicationDate":"2025-07-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144579298","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":"Effect of dopaminergic medications on Montreal Cognitive Assessment in Parkinson's disease patients","authors":"Tao Xie ,&nbsp;Chuanhong Liao ,&nbsp;Jonathan Bundy ,&nbsp;Widad Abou Chaar ,&nbsp;Hanna Lancerio ,&nbsp;Maureen Lacy ,&nbsp;Kaitlin Seibert ,&nbsp;Brian C. Chiu ,&nbsp;Mahesh Padmanaban","doi":"10.1016/j.parkreldis.2025.107951","DOIUrl":"10.1016/j.parkreldis.2025.107951","url":null,"abstract":"<div><h3>Background</h3><div>It is unknown whether dopaminergic medications affect the overall and individual cognitive function scores of the Montreal Cognitive Assessment (MoCA) in White and Black patients with Parkinson's disease (PD). A study on this would have significant implications in clinical practice and research.</div></div><div><h3>Methods</h3><div>We compared the overall and individual cognitive function scores of the MoCA and the Unified PD Rating Scale motor (UPDRS-III) scores at medications Off/On status in White patients and Black patients with PD in any individual or combined groups. We also compared other motor, non-motor (UPDRS-I/-II/-IV, depression/anxiety) and quality of life (PD-QoL-39) scale scores between White patients and Black patients.</div></div><div><h3>Results</h3><div>In 68 patients recruited (40/28 White/Black, comparable in ages and disease durations), dopaminergic medications did not make significant differences in overall MoCA scores but significantly improved the UPDRS-III motor scores at similar magnitudes in all groups. There was a slight improvement in naming and abstraction and worsening in delayed recall when on medications among these groups. There was no difference in other motor, non-motor, and QoL scores, except less social support in Black patients compared to White patients.</div></div><div><h3>Conclusions</h3><div>Dopaminergic medications do not significantly affect the overall MoCA score (except a few individual cognitive functions) in White and Black patients with PD despite significant improvement in motor symptoms in all groups in this study. There is no difference in other motor, non-motor, and QoL scores, except less social support in Black patients compared to White patients. This study has significant implications in practice and research.</div></div>","PeriodicalId":19970,"journal":{"name":"Parkinsonism & related disorders","volume":"138 ","pages":"Article 107951"},"PeriodicalIF":3.1,"publicationDate":"2025-07-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144596471","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":"Cognitive function, psychobehavioral symptoms, and MRI features in patients with non-demented Parkinson's disease, Parkinson's disease with dementia, and dementia with Lewy bodies","authors":"Tian Xu ,&nbsp;Yong Ji ,&nbsp;Pan Wang ,&nbsp;Hao Wu ,&nbsp;Shuai Liu ,&nbsp;Zhaoyang Lv ,&nbsp;Xiaoqiao Ren ,&nbsp;Jia Liu ,&nbsp;Zihan Wang ,&nbsp;Hao Lu ,&nbsp;Zhihong Shi","doi":"10.1016/j.parkreldis.2025.107953","DOIUrl":"10.1016/j.parkreldis.2025.107953","url":null,"abstract":"<div><h3>Introduction</h3><div>Parkinson's disease without dementia (PD-ND), Parkinson's disease with dementia (PDD), and dementia with Lewy bodies (DLB) are Lewy body disorders characterized by intraneuronal Lewy body pathology. Although the sequence of motor and cognitive symptom onset assists in differentiating PDD from DLB, overlapping clinical features often complicate diagnosis. This study compared cognitive profiles, neuropsychiatric symptoms, and magnetic resonance imaging (MRI) characteristics among PD-ND, PDD, and DLB to identify potential diagnostic markers.</div></div><div><h3>Methods</h3><div>A retrospective review was conducted of 213 patients with PD-ND, 85 with PDD, 140 with DLB, and 86 age-matched cognitively normal controls seen between 2011 and 2025. Cognitive performance was assessed using the Mini-Mental State Examination (MMSE) and Montreal Cognitive Assessment (MoCA). Neuropsychiatric symptoms and MRI visual rating scales, including ventricular enlargement, global cortical atrophy, medial temporal atrophy, parietal atrophy (Koedam score), white matter hyperintensities, Fazekas scale, Evans Index, and width of the third ventricle, were evaluated.</div></div><div><h3>Results</h3><div>PDD patients exhibited longer disease duration than those with DLB (P &lt; 0.001). DLB cases demonstrated lower MMSE and MoCA scores and greater neuropsychiatric symptom severity (all P &lt; 0.01). DLB showed more extensive structural brain changes compared to both PD-ND and PDD. A combined imaging model yielded an AUC of 0.768.</div></div><div><h3>Conclusion</h3><div>DLB is associated with more rapid cognitive decline, greater neuropsychiatric burden, and more pronounced atrophy compared to PDD. Combined imaging measures may improve differential diagnosis.</div></div>","PeriodicalId":19970,"journal":{"name":"Parkinsonism & related disorders","volume":"138 ","pages":"Article 107953"},"PeriodicalIF":3.1,"publicationDate":"2025-07-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144587838","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":"Should old acquaintance be forgot: A call for recognition and inclusion of advanced Parkinson's disease patients & care partners in evolving research models.","authors":"Jade S Park, Claire Pensyl, Thomas J Manak, Jori E Fleisher","doi":"10.1016/j.parkreldis.2025.107949","DOIUrl":"https://doi.org/10.1016/j.parkreldis.2025.107949","url":null,"abstract":"","PeriodicalId":19970,"journal":{"name":"Parkinsonism & related disorders","volume":" ","pages":"107949"},"PeriodicalIF":3.1,"publicationDate":"2025-07-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144619720","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":"FGF14 (GAA∙TTC) repeat expansion-related ataxia SCA27B is common in Northern Finland","authors":"Laura Kytövuori ,&nbsp;David Pellerin ,&nbsp;Mikko Kärppä ,&nbsp;Jussi O.T. Sipilä ,&nbsp;Marie-Josée Dicaire ,&nbsp;Pablo Iruzubieta ,&nbsp;Bernard Brais ,&nbsp;Kari Majamaa","doi":"10.1016/j.parkreldis.2025.107943","DOIUrl":"10.1016/j.parkreldis.2025.107943","url":null,"abstract":"<div><h3>Introduction</h3><div>An intronic repeat expansion (GAA∙TTC)_exp in the <em>FGF14</em> gene (<em>FGF14</em> (GAA∙TTC)_exp) has recently been found to cause dominantly inherited ataxia SCA27B. The core phenotype consists of late-onset and slowly progressing ataxia with down-beat nystagmus and episodic features. Disease penetrance depends on the number of repeat units and ≥300 is widely used pathogenic threshold for complete penetrance. The Finnish population is genetically unique and SCA27B has not previously been reported in Finland.</div></div><div><h3>Methods</h3><div>We investigated <em>FGF14</em> (GAA∙TTC)_exp in a cohort of 96 Finnish patients with suspected hereditary ataxia or ataxia of unknown etiology, of whom 62 patients had no previous genetic diagnosis. We also assessed <em>FGF14</em> (GAA∙TTC)_exp in 561 controls in order to estimate its population prevalence in North Ostrobothnia.</div></div><div><h3>Results</h3><div>We found five patients with <em>FGF14</em> (GAA∙TTC)_≥250 giving a frequency of 5.2 % in the ataxia cohort. One patient had a rare biallelic genotype. Four patients had the classical SCA27B phenotype with no atypical features. Two of the patients had a previous genetic diagnosis and digenic contribution could not be excluded. Moreover, we found one patient with suspected <em>FGF14</em> disease and with (GAA∙TTC)₂₄₈, but the segregation analysis remained inconclusive. The (GAA∙TTC)_≥250 frequency was 2.7 % in the general population. Population prevalence was 1.7 per 100 000 in North Ostrobothnia. The frequency of alleles harboring 200–249 repeats was 2.2 % in patients and 1.5 % in controls.</div></div><div><h3>Conclusion</h3><div>Our results suggest that screening of <em>FGF14</em> expansion should be carried out in Finnish patients with suspected hereditary ataxia or ataxia of unknown etiology.</div></div>","PeriodicalId":19970,"journal":{"name":"Parkinsonism & related disorders","volume":"137 ","pages":"Article 107943"},"PeriodicalIF":3.1,"publicationDate":"2025-07-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144570916","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":"Exploring pallidothalamic tractotomy for refractory cervical dystonia: A case study from India with a review of literature","authors":"Archita Makharia ,&nbsp;Thoibisana Ashem ,&nbsp;Manda Goveen ,&nbsp;Roopa Rajan ,&nbsp;Divyani Garg ,&nbsp;Ayush Agarwal ,&nbsp;Animesh Das ,&nbsp;Awadh Kishor Pandit ,&nbsp;Manmohan Singh ,&nbsp;Achal Kumar Srivastava ,&nbsp;Vinay Goyal ,&nbsp;Kanwaljeet Garg ,&nbsp;Divya M. Radhakrishnan","doi":"10.1016/j.parkreldis.2025.107941","DOIUrl":"10.1016/j.parkreldis.2025.107941","url":null,"abstract":"","PeriodicalId":19970,"journal":{"name":"Parkinsonism & related disorders","volume":"137 ","pages":"Article 107941"},"PeriodicalIF":3.1,"publicationDate":"2025-07-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144563375","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}