Pub Date : 2025-01-01DOI: 10.1016/j.prdoa.2025.100298
Lea Krey, Annika Heike Ritzrau, Theresa Schnur, Stephan Greten, Florian Wegner, Martin Klietz
The aim of this study was to assess the presence of Alexithymia in Parkinson’s disease (PD) patients compared to their caregivers (CG) and to investigate whether Alexithymia progressed over a 4-year observational period. Alexithymia in PD is a cognitive affective disturbance resulting in difficulty to identify, distinguish and describe feelings and it is known to be strongly associated with health-related quality of life and other cognitive/ neuropsychiatric symptoms. So far, there have been no longitudinal investigations of Alexithymia in PD. We recruited 34 moderately progressed PD patients (mean disease duration of 8.9 ± 5.3 years) and their caregivers in our neurological department and did a baseline and follow-up assessment using the validated Toronto Alexithymia Scale-26 (TAS-26). Our data show that Alexithymia is more abundant in the PD cohort compared to their caregivers (p = 0.007, PD 21 %, CG 6 % at follow-up). In the 4-year observational period, Alexithymia did not increase significantly in PD patients or caregivers. However, there was a high variance in Alexithymia scores in both groups. It remains unclear when Alexithymia appears during the disease course and whether there is a dynamic in Alexithymia scores later in PD progression. This should be the objective for future studies of Alexithymia in advanced PD patients.
{"title":"A four-year trajectory of Alexithymia in Parkinson’s disease patients","authors":"Lea Krey, Annika Heike Ritzrau, Theresa Schnur, Stephan Greten, Florian Wegner, Martin Klietz","doi":"10.1016/j.prdoa.2025.100298","DOIUrl":"10.1016/j.prdoa.2025.100298","url":null,"abstract":"<div><div>The aim of this study was to assess the presence of Alexithymia in Parkinson’s disease (PD) patients compared to their caregivers (CG) and to investigate whether Alexithymia progressed over a 4-year observational period. Alexithymia in PD is a cognitive affective disturbance resulting in difficulty to identify, distinguish and describe feelings and it is known to be strongly associated with health-related quality of life and other cognitive/ neuropsychiatric symptoms. So far, there have been no longitudinal investigations of Alexithymia in PD. We recruited 34 moderately progressed PD patients (mean disease duration of 8.9 ± 5.3 years) and their caregivers in our neurological department and did a baseline and follow-up assessment using the validated Toronto Alexithymia Scale-26 (TAS-26). Our data show that Alexithymia is more abundant in the PD cohort compared to their caregivers (p = 0.007, PD 21 %, CG 6 % at follow-up). In the 4-year observational period, Alexithymia did not increase significantly in PD patients or caregivers. However, there was a high variance in Alexithymia scores in both groups. It remains unclear when Alexithymia appears during the disease course and whether there is a dynamic in Alexithymia scores later in PD progression. This should be the objective for future studies of Alexithymia in advanced PD patients.</div></div>","PeriodicalId":33691,"journal":{"name":"Clinical Parkinsonism Related Disorders","volume":"12 ","pages":"Article 100298"},"PeriodicalIF":1.9,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11782886/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143081274","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2025-01-01DOI: 10.1016/j.prdoa.2025.100331
Amir Hossein Najmi , Armin Ariaei , Mahboobeh Khezri , Masoud Noroozi , Melika Arab Bafrani , Avesta Gheysari , Farideh Sabetghadam , Mehdi Ahmadi , Mohammad Sadeghi , Mahsa Mayeli , The Parkinson’s Progression Markers Initiative
Introduction
Determining Parkinson’s disease (PD) stage and severity are among the factors affecting treatment strategy. Dopamine transporter scan (DaTSCAN) has high efficiency in the diagnosis of PD, while its role in predicting motor function, dyskinesia, and symptoms severity trajectory remains controversial. This study aimed to evaluate the associations between motor symptoms patterns in PD with DaTscan findings.
Methods
A total of 196 patients were included and grouped based on tremor score, postural instability and gait difficulty score, and the presentation of dyskinesia. Multivariate and ordinal logistic regression models were used to investigate the association between two-year follow-up of the PD patients’ motor symptoms assessment scores and DaTSCAN finding patterns.
Results
Patients with dyskinesia exhibited significantly lower DaTSCAN uptake across all measured regions, with the most pronounced reductions observed in the right caudate and left putamen (p < 0.001). Additionally, DaTSCAN values were strongly associated with overall disease severity (p < 0.001). A notable positive correlation was found between DaTSCAN uptake and Schwab and England Activities of Daily Living (ADL) scores, whereas significant negative correlations were observed between DaTSCAN measures (including the caudate, putamen, and anterior putamen) and clinical motor scores, such as MDS-UPDRS III, MDS-UPDRS II, and PIGD. In contrast, DaTSCAN parameters did not significantly predict tremor-dominant (TD) scores.
Conclusion
Beyond its diagnostic utility, DaTSCAN provides meaningful insights into disease severity and motor dysfunction in PD, with particular relevance to postural instability and gait disturbance.
{"title":"Longitudinal Assessment of Parkinson’s Motor Symptoms and Dopaminergic Dysfunction Patterns Using DaTSCAN","authors":"Amir Hossein Najmi , Armin Ariaei , Mahboobeh Khezri , Masoud Noroozi , Melika Arab Bafrani , Avesta Gheysari , Farideh Sabetghadam , Mehdi Ahmadi , Mohammad Sadeghi , Mahsa Mayeli , The Parkinson’s Progression Markers Initiative","doi":"10.1016/j.prdoa.2025.100331","DOIUrl":"10.1016/j.prdoa.2025.100331","url":null,"abstract":"<div><h3>Introduction</h3><div>Determining Parkinson’s disease (PD) stage and severity are among the factors affecting treatment strategy. Dopamine transporter scan (DaTSCAN) has high efficiency in the diagnosis of PD, while its role in predicting motor function, dyskinesia, and symptoms severity trajectory remains controversial. This study aimed to evaluate the associations between motor symptoms patterns in PD with DaTscan findings.</div></div><div><h3>Methods</h3><div>A total of 196 patients were included and grouped based on tremor score, postural instability and gait difficulty score, and the presentation of dyskinesia. Multivariate and ordinal logistic regression models were used to investigate the association between two-year follow-up of the PD patients’ motor symptoms assessment scores and DaTSCAN finding patterns.</div></div><div><h3>Results</h3><div>Patients with dyskinesia exhibited significantly lower DaTSCAN uptake across all measured regions, with the most pronounced reductions observed in the right caudate and left putamen (p < 0.001). Additionally, DaTSCAN values were strongly associated with overall disease severity (p < 0.001). A notable positive correlation was found between DaTSCAN uptake and Schwab and England Activities of Daily Living (ADL) scores, whereas significant negative correlations were observed between DaTSCAN measures (including the caudate, putamen, and anterior putamen) and clinical motor scores, such as MDS-UPDRS III, MDS-UPDRS II, and PIGD. In contrast, DaTSCAN parameters did not significantly predict tremor-dominant (TD) scores.</div></div><div><h3>Conclusion</h3><div>Beyond its diagnostic utility, DaTSCAN provides meaningful insights into disease severity and motor dysfunction in PD, with particular relevance to postural instability and gait disturbance.</div></div>","PeriodicalId":33691,"journal":{"name":"Clinical Parkinsonism Related Disorders","volume":"12 ","pages":"Article 100331"},"PeriodicalIF":1.9,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143864226","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2025-01-01DOI: 10.1016/j.prdoa.2025.100391
Steven Lehrer , Peter Rheinstein
Background
SGIP1 (SH3GL Interacting Endocytic Adaptor 1) at 1p31.3 has been implicated in early-onset Parkinsonism in a rare familial case. We investigated the nearby intronic SNP rs7549881 (A > G, MAF 0.43) for association with Parkinson’s disease (PD) and other traits in the UK Biobank.
Methods
A total of 385,629 UK Biobank participants with ≥7 years of education were included. Logistic regression adjusted for age, sex, smoking, and constipation evaluated the association between rs7549881 and PD. PheWAS was performed using PheWeb to identify additional phenotypic associations.
Results
Among females, 26.0 % of rs7549881 GG homozygotes had PD, compared to 22.2 % without PD (p = 0.004). No significant genotype-PD association was observed in males. Logistic regression showed that age (OR 1.14), male sex (OR 1.83), and constipation (OR 4.73) increased PD risk, while smoking was protective (OR 0.75). GG genotype conferred increased PD risk versus AA (OR 1.21, p = 0.015). PheWAS identified significant associations with gastrointestinal phenotypes, including functional digestive disorders and noninfectious gastroenteritis.
Conclusion
SNP rs7549881 is associated with PD in females and with gastrointestinal disorders across both sexes. These findings reinforce the role of SGIP1 in synaptic endocytosis and suggest its contribution to gut-brain axis dysfunction in PD.
{"title":"SNP rs7549881, near SGIP1 at 1p31.3, is significantly associated with digestive disorders and Parkinsonism in women","authors":"Steven Lehrer , Peter Rheinstein","doi":"10.1016/j.prdoa.2025.100391","DOIUrl":"10.1016/j.prdoa.2025.100391","url":null,"abstract":"<div><h3>Background</h3><div>SGIP1 (SH3GL Interacting Endocytic Adaptor 1) at 1p31.3 has been implicated in early-onset Parkinsonism in a rare familial case. We investigated the nearby intronic SNP rs7549881 (A > G, MAF 0.43) for association with Parkinson’s disease (PD) and other traits in the UK Biobank.</div></div><div><h3>Methods</h3><div>A total of 385,629 UK Biobank participants with ≥7 years of education were included. Logistic regression adjusted for age, sex, smoking, and constipation evaluated the association between rs7549881 and PD. PheWAS was performed using PheWeb to identify additional phenotypic associations.</div></div><div><h3>Results</h3><div>Among females, 26.0 % of rs7549881 GG homozygotes had PD, compared to 22.2 % without PD (p = 0.004). No significant genotype-PD association was observed in males. Logistic regression showed that age (OR 1.14), male sex (OR 1.83), and constipation (OR 4.73) increased PD risk, while smoking was protective (OR 0.75). GG genotype conferred increased PD risk versus AA (OR 1.21, p = 0.015). PheWAS identified significant associations with gastrointestinal phenotypes, including functional digestive disorders and noninfectious gastroenteritis.</div></div><div><h3>Conclusion</h3><div>SNP rs7549881 is associated with PD in females and with gastrointestinal disorders across both sexes. These findings reinforce the role of SGIP1 in synaptic endocytosis and suggest its contribution to gut-brain axis dysfunction in PD.</div></div>","PeriodicalId":33691,"journal":{"name":"Clinical Parkinsonism Related Disorders","volume":"13 ","pages":"Article 100391"},"PeriodicalIF":1.8,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144987987","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"A case of Frégoli syndrome following 24-hour levodopa-carbidopa intestinal gel infusion in a patient with Parkinson’s disease undergoing STN-DBS","authors":"Shunsuke Ogata , Katsuo Kimura , Katsuya Abe , Yumeko Urago , Noriko Hayashi , Misako Kunii , Naohisa Ueda , Fumiaki Tanaka","doi":"10.1016/j.prdoa.2025.100364","DOIUrl":"10.1016/j.prdoa.2025.100364","url":null,"abstract":"","PeriodicalId":33691,"journal":{"name":"Clinical Parkinsonism Related Disorders","volume":"13 ","pages":"Article 100364"},"PeriodicalIF":1.9,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144534125","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2025-01-01DOI: 10.1016/j.prdoa.2025.100366
Paresh K. Doshi , Bhagyashree Mehrotra , Neha Rai , M.R. Rajani , Aparna Budhakar , Ritika Aggarwal , Mona Thomas , Sampada Patole , Raj V. Agarbattiwala
Background
Parkinson’s disease (PD) significantly impairs motor and cognitive functions, reducing quality of life. Non-pharmacological interventions, such as dance/music therapy combined with meditation, may offer potential benefits in managing symptoms of PD.
Methods
A parallel, single-blinded, randomized, controlled pilot study was conducted from March to August 2023 with a six-month follow-up. Thirty patients with mild to moderate PD under 80 years and capable of participating were included. Exclusion criteria were deep brain stimulation and high fall risk. The intervention group received dance/music therapy with meditation sessions, while the control group continued regular activities. Medications remained unchanged in both groups. Primary outcomes were changes in UPDRS I-III and PDQ-39 scores. Secondary outcomes included a mini-mental state examination, Beck’s Depression Inventory, Parkinson’s Anxiety Scale, Questionnaire for Impulsive-Compulsive Disorders in Parkinson’s Disease-Rating Scale, Berg Balance Test, Time Up and Go Test, and Parkinson’s disease Questionnaire-Carer (PDQ-Carer), Zarit-Caregiver Burden Interview (ZBI).
Results
Twenty-eight participants were analyzed, with 15 in the intervention group and 13 in the control group. Significant improvement {difference of 8 points, P = 0.013} was noted in UPDRS I-III scores in the intervention group (n = 15). PDQ-39 scores improved in the intervention group {6.82 points reduction, P = 0.0057}. Caregivers in the intervention group showed a significant decrease in PDQ-Carer (1.5 points, P = 0.008) and ZBI scores (1.0 points, P = 0.005). There were no significant changes in other secondary outcome measures.
Conclusions
The study’s findings showed potential benefits from these non-pharmacological interventions, warranting a more extensive study.
帕金森病（PD）严重损害运动和认知功能，降低生活质量。非药物干预，如舞蹈/音乐疗法结合冥想，可能在控制PD症状方面提供潜在的益处。方法于2023年3月至8月进行一项平行、单盲、随机、对照的先导研究，随访6个月。30例轻至中度PD患者，年龄在80岁以下，有参与能力。排除标准为深部脑刺激和高跌倒风险。干预组接受舞蹈/音乐治疗和冥想课程，而对照组继续常规活动。两组患者的用药情况保持不变。主要结局是UPDRS I-III和PDQ-39评分的变化。次要结果包括简易精神状态检查、贝克抑郁量表、帕金森焦虑量表、帕金森病冲动性强迫症量表、伯格平衡测试、Time Up and Go测试、帕金森病护理者问卷（PDQ-Carer）、扎里特-照顾者负担访谈（ZBI）。结果共分析受试者28例，其中干预组15例，对照组13例。干预组UPDRS I-III评分显著改善{差异8分，P = 0.013} （n = 15）。干预组患者的PDQ-39评分较对照组有所改善，降低6.82分，P = 0.0057。干预组护理人员的PDQ-Carer评分（1.5分，P = 0.008）和ZBI评分（1.0分，P = 0.005）均显著降低。其他次要结局指标无显著变化。结论：研究结果显示了这些非药物干预的潜在益处，值得进行更广泛的研究。
{"title":"Impact of dance/music and meditation on the progression of Parkinson’s disease with mild/ moderate severity: a single-blinded randomized controlled pilot study","authors":"Paresh K. Doshi , Bhagyashree Mehrotra , Neha Rai , M.R. Rajani , Aparna Budhakar , Ritika Aggarwal , Mona Thomas , Sampada Patole , Raj V. Agarbattiwala","doi":"10.1016/j.prdoa.2025.100366","DOIUrl":"10.1016/j.prdoa.2025.100366","url":null,"abstract":"<div><h3>Background</h3><div>Parkinson’s disease (PD) significantly impairs motor and cognitive functions, reducing quality of life. Non-pharmacological interventions, such as dance/music therapy combined with meditation, may offer potential benefits in managing symptoms of PD.</div></div><div><h3>Methods</h3><div>A parallel, single-blinded, randomized, controlled pilot study was conducted from March to August 2023 with a six-month follow-up. Thirty patients with mild to moderate PD under 80 years and capable of participating were included. Exclusion criteria were deep brain stimulation and high fall risk. The intervention group received dance/music therapy with meditation sessions, while the control group continued regular activities. Medications remained unchanged in both groups. Primary outcomes were changes in UPDRS I-III and PDQ-39 scores. Secondary outcomes included a mini-mental state examination, Beck’s Depression Inventory, Parkinson’s Anxiety Scale, Questionnaire for Impulsive-Compulsive Disorders in Parkinson’s Disease-Rating Scale, Berg Balance Test, Time Up and Go Test, and Parkinson’s disease Questionnaire-Carer (PDQ-Carer), Zarit-Caregiver Burden Interview (ZBI).</div></div><div><h3>Results</h3><div>Twenty-eight participants were analyzed, with 15 in the intervention group and 13 in the control group. Significant improvement {difference of 8 points, <em>P</em> = <em>0.013</em>} was noted in UPDRS I-III scores in the intervention group (n = 15). PDQ-39 scores improved in the intervention group {6.82 points reduction, P = 0.0057}. Caregivers in the intervention group showed a significant decrease in PDQ-Carer (1.5 points, P = 0.008) and ZBI scores (1.0 points, P = 0.005). There were no significant changes in other secondary outcome measures.</div></div><div><h3>Conclusions</h3><div>The study’s findings showed potential benefits from these non-pharmacological interventions, warranting a more extensive study.</div></div>","PeriodicalId":33691,"journal":{"name":"Clinical Parkinsonism Related Disorders","volume":"13 ","pages":"Article 100366"},"PeriodicalIF":1.9,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144634485","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2025-01-01DOI: 10.1016/j.prdoa.2025.100376
Jiaji Lin , Haoxuan Lu , Xianbing Bian , Jianxing Hu , Longsheng Pan , Xin Lou
Introduction
Magnetic resonance-guided focused ultrasound (MRgFUS) thalamotomy is safe and effective for tremor disorders such as essential tremor (ET), but whether preoperative serum profiles mediate tremor recurrence after treatment requires further investigation.
Methods
We retrospectively analyzed the data of 59 ET patients who underwent unilateral MRgFUS thalamotomy during 2018–2020. Tremor severity was assessed off-medication using the Clinical Rating Scale for Tremor (CRST), with contralateral hand tremor measured via a derived CRST subscale. Short-term tremor relief was defined as ≥ 50 % reduction at 1-month postoperatively, and tremor recurrence was defined as a worsening by 25 % and at least 8 points within 12 months. Multivariate logistic regression analyses were performed to identify predictors of tremor relief and recurrence, and variables with P < 0.05 were used to construct nomograms for tremor relief and recurrence. Receiver operating characteristic curves, calibration analysis, and the Hosmer-Lemeshow test were conducted to evaluate the nomograms.
Results
At 1-month after MRgFUS thalamotomy, hand tremor scores were decreased by > 50 % relative to the preoperative score in all patients and by > 75 % in 39 (66.10 %) patients. However, 9 (15.25 %) patients developed tremor recurrence within 12 months. Multivariate analysis showed that fibrinogen was independently linked to short-term tremor relief (odds ratio [OR]: 0.18) and long-term tremor recurrence (OR: 1.620). The nomograms for tremor relief and recurrence showed high performance (areas under the curve: 0.82 and 0.83, respectively); the Hosmer-Lemeshow test yielded P values of 0.54 and 0.498, respectively. The calibration curves exhibited high consistency.
Conclusion
Serum fibrinogen is a key factor for tremor relief and recurrence in ET patients undergoing unilateral MRgFUS thalamotomy.
{"title":"Fibrinogen is the key factor associated with tremor relief and recurrence after magnetic resonance-guided focused ultrasound thalamotomy","authors":"Jiaji Lin , Haoxuan Lu , Xianbing Bian , Jianxing Hu , Longsheng Pan , Xin Lou","doi":"10.1016/j.prdoa.2025.100376","DOIUrl":"10.1016/j.prdoa.2025.100376","url":null,"abstract":"<div><h3>Introduction</h3><div>Magnetic resonance-guided focused ultrasound (MRgFUS) thalamotomy is safe and effective for tremor disorders such as essential tremor (ET), but whether preoperative serum profiles mediate tremor recurrence after treatment requires further investigation.</div></div><div><h3>Methods</h3><div>We retrospectively analyzed the data of 59 ET patients who underwent unilateral MRgFUS thalamotomy during 2018–2020. Tremor severity was assessed off-medication using the Clinical Rating Scale for Tremor (CRST), with contralateral hand tremor measured via a derived CRST subscale. Short-term tremor relief was defined as ≥ 50 % reduction at 1-month postoperatively, and tremor recurrence was defined as a worsening by 25 % and at least 8 points within 12 months. Multivariate logistic regression analyses were performed to identify predictors of tremor relief and recurrence, and variables with <em>P</em> < 0.05 were used to construct nomograms for tremor relief and recurrence. Receiver operating characteristic curves, calibration analysis, and the Hosmer-Lemeshow test were conducted to evaluate the nomograms.</div></div><div><h3>Results</h3><div>At 1-month after MRgFUS thalamotomy, hand tremor scores were decreased by > 50 % relative to the preoperative score in all patients and by > 75 % in 39 (66.10 %) patients. However, 9 (15.25 %) patients developed tremor recurrence within 12 months. Multivariate analysis showed that fibrinogen was independently linked to short-term tremor relief (odds ratio [OR]: 0.18) and long-term tremor recurrence (OR: 1.620). The nomograms for tremor relief and recurrence showed high performance (areas under the curve: 0.82 and 0.83, respectively); the Hosmer-Lemeshow test yielded <em>P</em> values of 0.54 and 0.498, respectively. The calibration curves exhibited high consistency.</div></div><div><h3>Conclusion</h3><div>Serum fibrinogen is a key factor for tremor relief and recurrence in ET patients undergoing unilateral MRgFUS thalamotomy.</div></div>","PeriodicalId":33691,"journal":{"name":"Clinical Parkinsonism Related Disorders","volume":"13 ","pages":"Article 100376"},"PeriodicalIF":1.9,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144714198","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
A patient with early-onset PARK14 and novel PLA2G6 variants underwent globus pallidus internus deep brain stimulation, achieving sustained three-year motor and quality-of-life improvements. Although a literature review supports motor benefits, our case’s cognitive decline highlights the need for comprehensive assessment of non-motor symptoms and quality-of-life in this rare disorder.
{"title":"Long-term efficacy of deep brain stimulation in PLA2G6-related Parkinson’s disease: A case report with literature review","authors":"Takashi Tsuboi , Takashi Uematsu , Yoshiki Ito , Tomotaka Ishizaki , Satoshi Maesawa , Ryuta Saito , Hiroyo Yoshino , Nobutaka Hattori , Adolfo Ramirez-Zamora , Michael S. Okun , Masahisa Katsuno","doi":"10.1016/j.prdoa.2025.100377","DOIUrl":"10.1016/j.prdoa.2025.100377","url":null,"abstract":"<div><div>A patient with early-onset PARK14 and novel <em>PLA2G6</em> variants underwent globus pallidus internus deep brain stimulation, achieving sustained three-year motor and quality-of-life improvements. Although a literature review supports motor benefits, our case’s cognitive decline highlights the need for comprehensive assessment of non-motor symptoms and quality-of-life in this rare disorder.</div></div>","PeriodicalId":33691,"journal":{"name":"Clinical Parkinsonism Related Disorders","volume":"13 ","pages":"Article 100377"},"PeriodicalIF":1.8,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144748596","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2025-01-01DOI: 10.1016/j.prdoa.2025.100399
Nadeen Youhanan , Japleen Kaur , Andrew Hall , Krisha Bagga , Sean Patel , Anvit Sidhu , Ramez Alskaf , Zafeer Shaik , Paul E. Gilbert , Daniel J Goble , Jody Corey-Bloom
Background
Balance impairment may begin prior to motor diagnosis in Huntington’s disease (HD) and is associated with an increased risk of falls—an important predictor of nursing home placement.
Objective
To evaluate the ability of three balance measures to discriminate between Fallers and Non-Fallers and to estimate the likelihood of falling in HD patients.
Methods
125 gene-positive individuals were stratified into Fallers (n = 30) and Non-Fallers (n = 95) based on fall history. Participants completed a Total Body Sway (TBS) assessment using the BTrackS™ Balance Plate, Timed Up-and-Go (TUG), and Chair Sit-to-Stand Test (CST). Group differences were analyzed with Mann–Whitney U test. ROC curve analysis was used to calculate likelihood ratios (LRs) for each assessment’s ability to distinguish Fallers from Non-Fallers.
Results
Fallers demonstrated significantly higher TBS scores compared to Non-Fallers (p < 0.001), while differences on TUG (p = 0.098) and CST (p = 1.00) were not significant. TBS yielded the highest area under the curve (AUC = 0.89, p < 0.001), followed by TUG (AUC = 0.66, p = 0.008), while CST did not discriminate between groups (AUC = 0.47, p = 0.617). TBS also demonstrated superior diagnostic utility (LR+ = 5.06; LR– = 0.24) compared to TUG (LR+ = 3.41; LR– = 0.62) and CST (LR+ = 1.59; LR– = 0.90).
Conclusion
TBS and, to a lesser extent, TUG are valid tools for identifying individuals at risk of falling in HD. In contrast, the CST may not be an effective clinical measure in this regard.
背景：平衡障碍可能在亨廷顿舞蹈病（HD）的运动诊断之前就开始了，并且与跌倒的风险增加有关——这是养老院安置的重要预测因素。目的评价三种平衡指标区分跌倒者和非跌倒者的能力，并估计HD患者跌倒的可能性。方法125例基因阳性个体按跌倒史分为跌倒者（n = 30）和非跌倒者（n = 95）。参与者使用BTrackS™平衡板、定时起身（TUG）和椅子坐立测试（CST）完成了全身摇摆（TBS）评估。采用Mann-Whitney U检验分析组间差异。ROC曲线分析用于计算每个评估区分患者和非患者的能力的似然比（LRs）。结果跌倒组TBS评分显著高于非跌倒组（p < 0.001），而TUG （p = 0.098）和CST （p = 1.00）评分差异无统计学意义。TBS的曲线下面积最高（AUC = 0.89, p < 0.001）， TUG次之（AUC = 0.66, p = 0.008）， CST组间无差异（AUC = 0.47, p = 0.617）。与TUG （LR+ = 3.41, LR - = 0.62）和CST （LR+ = 1.59, LR - = 0.90）相比，TBS也显示出更高的诊断价值（LR+ = 5.06, LR - = 0.24）。结论tbs和TUG（在较小程度上）是识别HD患者跌倒风险个体的有效工具。相比之下，CST在这方面可能不是一种有效的临床措施。
{"title":"Examining Balance and the Likelihood of Falls in Huntington’s Disease","authors":"Nadeen Youhanan , Japleen Kaur , Andrew Hall , Krisha Bagga , Sean Patel , Anvit Sidhu , Ramez Alskaf , Zafeer Shaik , Paul E. Gilbert , Daniel J Goble , Jody Corey-Bloom","doi":"10.1016/j.prdoa.2025.100399","DOIUrl":"10.1016/j.prdoa.2025.100399","url":null,"abstract":"<div><h3>Background</h3><div>Balance impairment may begin prior to motor diagnosis in Huntington’s disease (HD) and is associated with an increased risk of falls—an important predictor of nursing home placement.</div></div><div><h3>Objective</h3><div>To evaluate the ability of three balance measures to discriminate between Fallers and Non-Fallers and to estimate the likelihood of falling in HD patients.</div></div><div><h3>Methods</h3><div>125 gene-positive individuals were stratified into Fallers (n = 30) and Non-Fallers (n = 95) based on fall history. Participants completed a Total Body Sway (TBS) assessment using the BTrackS™ Balance Plate, Timed Up-and-Go (TUG), and Chair Sit-to-Stand Test (CST). Group differences were analyzed with Mann–Whitney <em>U</em> test. ROC curve analysis was used to calculate likelihood ratios (LRs) for each assessment’s ability to distinguish Fallers from Non-Fallers.</div></div><div><h3>Results</h3><div>Fallers demonstrated significantly higher TBS scores compared to Non-Fallers (p < 0.001), while differences on TUG (p = 0.098) and CST (p = 1.00) were not significant. TBS yielded the highest area under the curve (AUC = 0.89, p < 0.001), followed by TUG (AUC = 0.66, p = 0.008), while CST did not discriminate between groups (AUC = 0.47, p = 0.617). TBS also demonstrated superior diagnostic utility (LR+ = 5.06; LR– = 0.24) compared to TUG (LR+ = 3.41; LR– = 0.62) and CST (LR+ = 1.59; LR– = 0.90).</div></div><div><h3>Conclusion</h3><div>TBS and, to a lesser extent, TUG are valid tools for identifying individuals at risk of falling in HD. In contrast, the CST may not be an effective clinical measure in this regard.</div></div>","PeriodicalId":33691,"journal":{"name":"Clinical Parkinsonism Related Disorders","volume":"13 ","pages":"Article 100399"},"PeriodicalIF":1.8,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145332110","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Circadian rhythm sleep disorders may occur after memantine administration. We describe a 49-year-old woman with Huntington’s disease, who complained of sleep onset insomnia following the administration of memantine. Memantine reduced hyperkinetic movements but led to delayed sleep phases, that were dose-dependent and reversible, confirmed by sleep logs and actigraphy.
{"title":"Memantine-induced delayed sleep phase in Huntington’s disease: A case report","authors":"Youshi Fujita , Toshio Hamada , Satoshi Kubota , Tomomi Sakoh-Goshima , Hirotaka Shirasaki","doi":"10.1016/j.prdoa.2025.100306","DOIUrl":"10.1016/j.prdoa.2025.100306","url":null,"abstract":"<div><div>Circadian rhythm sleep disorders may occur after memantine administration. We describe a 49-year-old woman with Huntington’s disease, who complained of sleep onset insomnia following the administration of memantine. Memantine reduced hyperkinetic movements but led to delayed sleep phases, that were dose-dependent and reversible, confirmed by sleep logs and actigraphy.</div></div>","PeriodicalId":33691,"journal":{"name":"Clinical Parkinsonism Related Disorders","volume":"12 ","pages":"Article 100306"},"PeriodicalIF":1.9,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143519318","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2025-01-01DOI: 10.1016/j.prdoa.2025.100325
Carlos Pérez-López , Nuria Caballol , Mariateresa Buongiorno , María Asunción Ávila Rivera , Núria López Ariztegui , Lydia López-Manzanares , Jorge Hernández-Vara , Àngels Bayes Rusiñol , Alexandre Gironell Carreró , María Álvarez Saúco , Elisabet Franquet Gomez , David A Pérez-Martínez , Sonia Escalante Arroyo , Silvia Martí Martínez , Pablo Mir , José Mª Salom Juan , Juan Carlos Martínez-Castrillo , Alejandro Rodríguez-Molinero
Background
Parkinson’s disease (PD) is a significant global health challenge, affecting millions worldwide. This sub-study aims to explore the potential of ambulatory monitoring devices in identifying disease severity and progression in patients. As part of the MOMOPA-EC clinical trial, 156 patients with moderate to severe PD underwent 435 assessments using clinical scales and ambulatory monitoring devices (Parkinson’s Holter). This sub-study seeks to establish relations between parameters derived from Holter monitors and clinical severity measures to enhance personalized disease management strategies. Methods: In the MOMOPA-EC trial, 435 patient monitoring sessions were conducted, during which patients wore Parkinson’s Holter monitors for a week before completing clinical assessments, including the Unified Parkinson’s Disease Rating Scale (UPDRS), Parkinson’s Disease Questionnaire (PDQ-39), and Freezing of Gait Questionnaire (FoG-Q). Results: The reports obtained during the monitoring of the patients were classified into three groups based on the greater or lesser gait fluidity (according to the measurements from the Parkinson’s Holter). All clinical scales were significantly different in each of these groups, indicating that patients with lower stride fluidity had poorer outcomes across the different clinical scales. Conclusions: The findings of this study underscore the potential of Parkinson’s Holters in providing objective data for personalized disease management in PD patients. Integrating such technologies into routine clinical practice could enhance patient care and treatment strategies by offering clinicians objective insights into both disease progression and therapeutic response.
{"title":"Comparison of clinical measures of motor function with a Holter monitor in Parkinson’s disease","authors":"Carlos Pérez-López , Nuria Caballol , Mariateresa Buongiorno , María Asunción Ávila Rivera , Núria López Ariztegui , Lydia López-Manzanares , Jorge Hernández-Vara , Àngels Bayes Rusiñol , Alexandre Gironell Carreró , María Álvarez Saúco , Elisabet Franquet Gomez , David A Pérez-Martínez , Sonia Escalante Arroyo , Silvia Martí Martínez , Pablo Mir , José Mª Salom Juan , Juan Carlos Martínez-Castrillo , Alejandro Rodríguez-Molinero","doi":"10.1016/j.prdoa.2025.100325","DOIUrl":"10.1016/j.prdoa.2025.100325","url":null,"abstract":"<div><h3>Background</h3><div>Parkinson’s disease (PD) is a significant global health challenge, affecting millions worldwide. This sub-study aims to explore the potential of ambulatory monitoring devices in identifying disease severity and progression in patients. As part of the MOMOPA-EC clinical trial, 156 patients with moderate to severe PD underwent 435 assessments using clinical scales and ambulatory monitoring devices (Parkinson’s Holter). This sub-study seeks to establish relations between parameters derived from Holter monitors and clinical severity measures to enhance personalized disease management strategies. Methods: In the MOMOPA-EC trial, 435 patient monitoring sessions were conducted, during which patients wore Parkinson’s Holter monitors for a week before completing clinical assessments, including the Unified Parkinson’s Disease Rating Scale (UPDRS), Parkinson’s Disease Questionnaire (PDQ-39), and Freezing of Gait Questionnaire (FoG-Q). Results: The reports obtained during the monitoring of the patients were classified into three groups based on the greater or lesser gait fluidity (according to the measurements from the Parkinson’s Holter). All clinical scales were significantly different in each of these groups, indicating that patients with lower stride fluidity had poorer outcomes across the different clinical scales. Conclusions: The findings of this study underscore the potential of Parkinson’s Holters in providing objective data for personalized disease management in PD patients. Integrating such technologies into routine clinical practice could enhance patient care and treatment strategies by offering clinicians objective insights into both disease progression and therapeutic response.</div></div>","PeriodicalId":33691,"journal":{"name":"Clinical Parkinsonism Related Disorders","volume":"12 ","pages":"Article 100325"},"PeriodicalIF":1.9,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143851984","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
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