Yubo Hu, Haochen Sun, Qin Jiang, Juan Wang, Shugang Zhang, Xingjian Lin
{"title":"Diagnostic analysis of adult neuronal ceroid lipofuscinosis caused by CLN6 gene mutation: a case report.","authors":"Yubo Hu, Haochen Sun, Qin Jiang, Juan Wang, Shugang Zhang, Xingjian Lin","doi":"10.1016/j.prdoa.2025.100384","DOIUrl":"10.1016/j.prdoa.2025.100384","url":null,"abstract":"<p><p>Neuronal ceroid lipofuscinosis is a rare lysosomal storage disorder that is difficult to distinguish from other diseases with similar clinical symptoms in its early stages. This article analyzes and summarizes the diagnostic process of a family affected by adult neuronal ceroid lipofuscinosis caused by CLN6 gene mutation. We collected clinical data from a 48-year-old female patient with neuronal ceroid lipofuscinosis who visited Nanjing Brain Hospital in March 2024. She has presented with corresponding symptoms since 2020. The patient underwent whole exome sequencing (WES) and other examinations. WES showed that both the patient and her elder brother, who exhibited similar symptoms of walking instability, were homozygous for a mutation in the CLN6 gene. This variant (c.856C > T: p.Leu286Phe) has not been previously reported and is classified as a Variant of Uncertain Significance (VUS) based on current American College of Medical Genetics and Genomics/Association for Molecular Pathology(ACMG/AMP) guidelines. Both of the patient's parents displayed normal phenotypes but were found to have heterozygous mutations in the CLN6 gene. Additionally, no nuclear inclusion bodies were found in the patient's skin tissue.</p>","PeriodicalId":33691,"journal":{"name":"Clinical Parkinsonism Related Disorders","volume":"13 ","pages":"100384"},"PeriodicalIF":1.8,"publicationDate":"2025-08-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12355483/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144875574","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}
Melissa Luque-Llano, Maria Angelica-Coronel, Yulexy T Alvarado-Vanegas, Floralinda García Puello, Laura Arzuza Ortega, Gustavo B Vincos
{"title":"Beyond the needle: how clinician expertise affects outcomes in the treatment of hemifacial spasm.","authors":"Melissa Luque-Llano, Maria Angelica-Coronel, Yulexy T Alvarado-Vanegas, Floralinda García Puello, Laura Arzuza Ortega, Gustavo B Vincos","doi":"10.1016/j.prdoa.2025.100383","DOIUrl":"10.1016/j.prdoa.2025.100383","url":null,"abstract":"<p><strong>Background: </strong>Hemifacial spasm (HFS) is characterized by abnormal contraction of the muscles innervated by the seventh cranial nerve. It is usually benign and diagnosed clinically. The effectiveness of botulinum toxin (BoNT) for its treatment has been well demonstrated. However, adverse events (AEs) resulting from its administration remain a concern, and some patients express reluctance to be treated by resident physicians, even when under expert supervision.</p><p><strong>Objective: </strong>To determine the association between the level of expertise of the neurology professional and the presence of AEs following BoNT administration in patients with HFS.</p><p><strong>Methods: </strong>A cross-sectional descriptive study with an analytical phase conducted at Hospital Occidente de Kennedy (Bogotá, Colombia). Out of 88 medical records reviewed, 73 met all inclusion criteria. Data analysis was performed using SPSS software version 22.</p><p><strong>Results: </strong>A predominance of female patients was observed, accounting for 74 % of the study population. The mean age of symptom onset was 54.5 ± 12.7 years, with a median symptom duration of 9 years. In most cases, the left side was affected (53.4 %). The average number of botulinum toxin applications per patient was 2.6 during the study period. Adverse events occurred in 12.6 % of cases, primarily mild facial paresis (7.9 %), hematoma (2.6 %), and eyelid ptosis (2.1 %).</p><p><strong>Conclusions: </strong>The results did not show a statistically significant association between the level of expertise and the occurrence of adverse events. The frequency of observed adverse events was similar between the groups. This suggests that the occurrence of adverse events following BoNT administration was comparable regardless of whether the procedure was performed by a neurologist or a resident under supervision.</p>","PeriodicalId":33691,"journal":{"name":"Clinical Parkinsonism Related Disorders","volume":"13 ","pages":"100383"},"PeriodicalIF":1.8,"publicationDate":"2025-08-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12355150/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144875573","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}
{"title":"The impact of pregabalin and gabapentin on essential tremor: a systematic review and meta-analysis.","authors":"Hooman Pourbala, Zhale Nahavandi, Arash Maghsoudlou, Melina Gazerani Farahani, Avin Khallaghi, Sepehr Izadi, Mehrdad Faizi, Mehran Ghaffari, Hadi Esmaily","doi":"10.1016/j.prdoa.2025.100381","DOIUrl":"10.1016/j.prdoa.2025.100381","url":null,"abstract":"<p><strong>Introduction: </strong>Essential tremor (ET) is a common neurological disorder characterized by involuntary rhythmic oscillations. Emerging evidence suggests that gabapentinoids, including gabapentin and pregabalin, may be effective in managing ET. This study aimed to assess the efficacy of gabapentinoids in treating ET by analyzing data from randomized controlled trials (RCTs).</p><p><strong>Methods: </strong>A systematic search was conducted across various databases to identify relevant RCTs utilizing gabapentin or pregabalin. Tremor severity was evaluated using the total tremor score (TTS) and accelerometry.</p><p><strong>Results: </strong>In a between-group <i>meta</i>-analysis of seven RCTs (N = 235), gabapentinoids did not significantly outperform placebo in reducing TTS or its subscales. Accelerometry data suggested a non-significant trend favoring gabapentinoids.However, within-group analyses demonstrated a significant reduction in TTS from baseline with gabapentinoids overall (P = 0.016), an effect driven by gabapentin (P = 0.021) but not pregabalin. No significant within-group improvements were observed for TTS subscales or accelerometry measures post-treatment.</p><p><strong>Conclusion: </strong>This <i>meta</i>-analysis found no significant advantage of gabapentinoids over placebo in ET. However, within-group analyses demonstrated that gabapentin-but not pregabalin-significantly reduced tremor severity from baseline, suggesting a potential therapeutic signal that warrants further investigation. Larger, standardized trials are needed to identify which patient subgroups, if any, may benefit from gabapentin therapy.</p>","PeriodicalId":33691,"journal":{"name":"Clinical Parkinsonism Related Disorders","volume":"13 ","pages":"100381"},"PeriodicalIF":1.8,"publicationDate":"2025-07-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12355546/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144875575","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}
Matthew D Smith , Anisha Cullen , Gabriella E Portlock , Marcus J Drake , Yoav Ben-Shlomo , Emily J Henderson
{"title":"Nocturnal polyuria is common in Parkinson’s and is associated with orthostatic hypotension","authors":"Matthew D Smith , Anisha Cullen , Gabriella E Portlock , Marcus J Drake , Yoav Ben-Shlomo , Emily J Henderson","doi":"10.1016/j.prdoa.2025.100334","DOIUrl":"10.1016/j.prdoa.2025.100334","url":null,"abstract":"<div><h3>Background</h3><div>Nocturia is the most common lower urinary tract symptom (LUTS) in Parkinson’s disease (PD) and impacts sleep and subsequent daytime function. Often nocturia in PD is attributed to overactive bladder, however we explored the contribution of the over-production of urine at night, nocturnal polyuria (NP), as another factor.</div></div><div><h3>Objectives</h3><div>To assess the prevalence and severity of NP in a PD cohort with LUTS and explore associations with autonomic and other patient characteristics.</div></div><div><h3>Methods</h3><div>Sub-study nested within a trial for LUTS in PD. All participants performed 72-hour bladder diaries. Nocturnal polyuria index (NPi) was calculated from diaries and key associations were explored.</div></div><div><h3>Results</h3><div>62.6 % of participants had NP based on the NPi33 threshold (producing > 33 % urine at night). Increasing NPi was strongly significantly associated with greater nocturia (OR 1.7 per 5 % NPi unit; 1.5–2.0; <em>P < 0.001</em>). A significant association was observed between NPi and orthostatic hypotension (OR 1.2 per 5 % NPi unit increase; 1.0–1.4; <em>P = 0.03</em>) and reported cardiovascular symptoms (coefficient 0.07; 0.03–0.11; <em>P = 0.002</em>). A marked association was seen with severe NP and orthostatic hypotension (OR 4.9; 1.56–15.57; <em>P = 0.006</em>).</div></div><div><h3>Conclusion</h3><div>NP is very common in this PD cohort symptomatic for LUTS, and is closely associated with increasing rate of nocturia. NP is linked to cardiovascular symptoms and autonomic dysfunction, particularly blood pressure lability which may be causal or simply reflect advanced disease state.</div></div>","PeriodicalId":33691,"journal":{"name":"Clinical Parkinsonism Related Disorders","volume":"12 ","pages":"Article 100334"},"PeriodicalIF":1.9,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143881498","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}
Saeed Vaheb , Danial Dehghani Firouzabadi , Hamed Ghoshouni , Mohammad Yazdan Panah , Vahid Shaygannejad , Omid Mirmosayyeb
{"title":"Frequency of tremor in people with multiple sclerosis: A systematic review and meta-analysis","authors":"Saeed Vaheb , Danial Dehghani Firouzabadi , Hamed Ghoshouni , Mohammad Yazdan Panah , Vahid Shaygannejad , Omid Mirmosayyeb","doi":"10.1016/j.prdoa.2025.100315","DOIUrl":"10.1016/j.prdoa.2025.100315","url":null,"abstract":"<div><h3>Background</h3><div>Multiple sclerosis (MS) is a chronic neurodegenerative disorder causing various symptoms, including tremors, which significantly affect the quality of life and disability in people with MS (PwMS). Previous studies report a wide range of tremor frequency in PwMS, necessitating a comprehensive review for reliable estimates.</div></div><div><h3>Objectives</h3><div>This review aimed to elucidate the frequency rate of tremor among PwMS.</div></div><div><h3>Method</h3><div>A systematic search was conducted in PubMed/MEDLINE, Embase, Scopus, and Web of Science up to April 27, 2024, to identify studies evaluating various types of tremors in PwMS. The Meta-proportion method implemented in R software version 4.0.0, utilizing a random-effects model, was employed to estimate the pooled frequency rates of tremor, with its 95% confidence interval (CI), among PwMS.</div></div><div><h3>Results</h3><div>From 3780 studies, 14 studies encompassing 17,458 PwMS (71.5 % female) were included. The mean age was 46.4 years, with a disease duration of 9.3 years and an Expanded Disability Status Scale (EDSS) score of 3.4. The pooled frequency of tremor was 33.32 % (95 % CI: 23.47 % to 44.88 %; I<sup>2</sup> = 98 %; <em>p</em>-heterogeneity < 0.01). Subgroup analysis by sample size revealed that the pooled frequency of tremor in PwMS was significantly lower (<em>p</em>-value < 0.01) in studies with over 200 participants (22.46, 95 % CI: 15.69 % to 31.08 %, I<sup>2</sup> = 99 %; <em>p</em>-heterogeneity < 0.01) compared to those with fewer than 200 participants (47.65, 95 % CI: 31.97 % to 63.81 %, I<sup>2</sup> = 91 %; <em>p</em>-heterogeneity < 0.01)</div></div><div><h3>Conclusion</h3><div>Tremor is a prevalent complaint in PwMS. These findings highlight the necessity for targeted supportive, therapeutic, and rehabilitative interventions to effectively address this prevalent issue in PwMS.</div></div>","PeriodicalId":33691,"journal":{"name":"Clinical Parkinsonism Related Disorders","volume":"12 ","pages":"Article 100315"},"PeriodicalIF":1.9,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143679783","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}
{"title":"Impact of istradefylline on motor and non-motor symptoms in patients with Parkinson’s disease: Subanalysis of the ISTRA ADJUST PD","authors":"Hiroshi Nagayama , Osamu Kano , Renpei Sengoku , Naotake Yanagisawa , Asako Yoritaka , Keisuke Suzuki , Noriko Nishikawa , Yohei Mukai , Kyoichi Nomura , Norihito Yoshida , Morinobu Seki , Miho Kawabe Matsukawa , Hiroo Terashi , Katsuo Kimura , Jun Tashiro , Shigeki Hirano , Hidetomo Murakami , Hideto Joki , Tsuyoshi Uchiyama , Hideki Shimura , Taku Hatano","doi":"10.1016/j.prdoa.2025.100327","DOIUrl":"10.1016/j.prdoa.2025.100327","url":null,"abstract":"<div><h3>Introduction</h3><div>Parkinson’s disease (PD) presents with diverse motor and non-motor symptoms, some of which do not fully respond to dopamine replacement therapy. To clarify the effects of the adenosine A<sub>2A</sub> receptor antagonist istradefylline (IST) on PD symptoms, we conducted a subanalysis of the 37-week ISTRA ADJUST PD randomized controlled trial.</div></div><div><h3>Methods</h3><div>Patients with PD experiencing wearing-off with levodopa at 300–400 mg/day were randomized 1:1 to receive IST or no IST (control). Levodopa doses were titrated according to clinical severity throughout the study. PD symptoms were assessed using the Movement Disorder Society Unified Parkinson’s Disease Rating Scale (MDS-UPDRS) and Parkinson’s Disease Questionnaire-39 (PDQ-39).</div></div><div><h3>Results</h3><div>The efficacy analyses included 105 patients (IST, n = 52; control, n = 53). Regarding MDS-UPDRS subitems in patients in the IST group, significant improvements (<em>p</em> < 0.05) were observed at week 36 compared with baseline for both motor (e.g., facial expression, rigidity, finger tapping, toe tapping, time spent in the off state, and complexity of motor fluctuation) and non-motor (e.g., daytime sleepiness, fatigue, and doing hobbies and other activities) symptoms. In patients in the control group, significant improvements (<em>p</em> < 0.05) were observed for motor symptoms only. Regarding PDQ-39 subitems in patients in the IST group, significant improvements (<em>p</em> < 0.05) were observed at week 36 compared with baseline in doing up buttons or shoelaces, writing, feeling angry or bitter, and unexpectedly falling asleep during the day.</div></div><div><h3>Conclusion</h3><div>IST can improve motor and non-motor symptoms and quality of life suggesting that it provides more comprehensive improvement in PD symptoms than increasing the levodopa dose alone.</div></div><div><h3>Clinical trial registration:</h3><div>Japan Registry of Clinical Trials; study ID: jRCTs031180248.</div></div>","PeriodicalId":33691,"journal":{"name":"Clinical Parkinsonism Related Disorders","volume":"12 ","pages":"Article 100327"},"PeriodicalIF":1.9,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143859562","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}
Thanh Phuong Pham Nguyen , Vy Le , Daniel Weintraub , Allison W. Willis
{"title":"Impact of pimavanserin on prescribing practices in parkinson disease","authors":"Thanh Phuong Pham Nguyen , Vy Le , Daniel Weintraub , Allison W. Willis","doi":"10.1016/j.prdoa.2025.100317","DOIUrl":"10.1016/j.prdoa.2025.100317","url":null,"abstract":"<div><h3>Introduction</h3><div>Parkinson disease psychosis (PDP) is a common complication of PD. Until 2016, the only drugs available to treat PDP in the U.S. were antipsychotics with variable degrees of dopamine-receptor antagonism (DRA) that may worsen PD motor symptoms. We evaluated the impact that pimavanserin, a selective serotonin receptor inverse agonist/antagonist atypical antipsychotic (AAP) with no known DRA, had on PDP treatment practices in a commercially insured population.</div></div><div><h3>Methods</h3><div>We included adults diagnosed with PD who filled at least one AAP prescription from 2016 to 2022. AAP dispensings were categorized into (1) pimavanserin, (2) clozapine and quetiapine (i.e., PDP-“preferred” mixed receptor antagonist AAPs), and (3) the remaining AAPs (i.e., PDP-“nonpreferred” mixed receptor antagonist AAPs). Trends in quarterly dispensing rates per 1000 persons treated were compared across categories. Secondary analyses focused on the 65+ subpopulations insured by Medicare Advantage programs.</div></div><div><h3>Results</h3><div>Dispensing rates varied between 4 and 697/1000 persons treated for pimavanserin, 1434–1821 for preferred, and 394–746 for nonpreferred AAPs. Pimavanserin dispensings surpassed the nonpreferred category after quarter 3 of 2018. However, preferred AAPs, particularly quetiapine, remained the most dispensed category in the sixth year after pimavanserin’s approval. We observed similar trends among Medicare Advantage enrollees.</div></div><div><h3>Conclusion</h3><div>The availability of pimavanserin was followed by a decline in the use of the most harmful AAPs in persons living with PD. Quetiapine remained the most prescribed AAP. Comparative safety and effectiveness studies are needed to define the relative risks and benefits of treatment options in PDP.</div></div>","PeriodicalId":33691,"journal":{"name":"Clinical Parkinsonism Related Disorders","volume":"12 ","pages":"Article 100317"},"PeriodicalIF":1.9,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143643126","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}
Sagari Betté , Joyce Qian , Hannah Cummings , Hiroo Shimoda , Katsumi Shinoda , Ashley Thai , Sarah Batson , Gabrielle Redhead , Alexander Hodkinson , Daniel Truong
{"title":"Comparative safety of istradefylline in Parkinson’s disease: A systematic review of randomized controlled trials and real-world studies","authors":"Sagari Betté , Joyce Qian , Hannah Cummings , Hiroo Shimoda , Katsumi Shinoda , Ashley Thai , Sarah Batson , Gabrielle Redhead , Alexander Hodkinson , Daniel Truong","doi":"10.1016/j.prdoa.2025.100307","DOIUrl":"10.1016/j.prdoa.2025.100307","url":null,"abstract":"<div><h3>Introduction</h3><div>Istradefylline offers a novel mechanism (adenosine A<sub>2A</sub> receptor antagonism) to treat OFF episodes in Parkinson’s disease (PD). It may potentially offer improved tolerability versus other adjuncts, but comparative safety data are lacking.</div></div><div><h3>Methods</h3><div>A systematic review and Bayesian network <em>meta</em>-analysis (NMA) incorporating RCTs of PD adjuncts until January 10, 2024, was conducted to estimate relative safety. Inconsistency was assessed and heterogeneity evaluated by global I<sup>2</sup>-statistic and between-study heterogeneity. Incidences of safety outcomes were summarized from RWE identified according to the same criteria.</div></div><div><h3>Results</h3><div>100 RCTs and 55 RWE publications were identified; 76 RCTs were included in NMAs. Istradefylline demonstrated lower odds of serious AEs (odds ratio [OR] = 0.56; 95 % CrI: 0.32, 0.99), treatment-emergent AEs (0.43; 0.25, 0.73), treatment-related AEs (0.33; 0.19, 0.56), hallucinations (0.25; 0.06, 0.97), and withdrawal due to AEs (0.37; 0.19, 0.68) versus amantadine. Istradefylline showed lower odds of dyskinesia (0.63; 0.41, 0.99) and hypotension (0.19; 0.03, 0.82) versus catechol-<em>O</em>-methyl transferase inhibitors (COMTi), lower odds of nausea (0.58; 0.33, 0.99) versus dopamine agonists (DA), and lower odds of hypotension (0.09; 0.01, 0.52) versus monoamine oxidase-B inhibitors (MAO-Bi). Sensitivity analysis of RCTs published since 2000 found a reduction in odds of dyskinesia and hallucinations for istradefylline versus DA. RWE were heterogeneous but demonstrated lower incidence of certain AEs with istradefylline, specifically dyskinesia (versus MAO-Bi), somnolence (versus DA and COMTi), peripheral edema and hallucinations (versus amantadine), and nausea (versus all comparators).</div></div><div><h3>Conclusion</h3><div>Istradefylline exhibits a favorable safety profile versus other PD adjuncts, as demonstrated by RCTs and RWE.</div></div>","PeriodicalId":33691,"journal":{"name":"Clinical Parkinsonism Related Disorders","volume":"12 ","pages":"Article 100307"},"PeriodicalIF":1.9,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143463456","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}
{"title":"Paroxysmal abdominalgia as a non-motor wearing off phenomenon in Parkinson’s disease. A case series and literature review","authors":"Abdalmalik Bin Khunayfir, Stewart A. Factor","doi":"10.1016/j.prdoa.2025.100368","DOIUrl":"10.1016/j.prdoa.2025.100368","url":null,"abstract":"<div><h3>Background</h3><div>Paroxysmal abdominalgia (PxA) is an underrecognized, debilitating form of abdominal pain that manifests during wearing-off (WO) periods in Parkinson’s disease (PD). Despite its profound impact, PxA remains poorly described, complicating diagnosis and management.</div></div><div><h3>Methods</h3><div>We conducted a retrospective case series of patients with PD and recurrent abdominal pain linked to WO episodes. Demographic, clinical, and detailed pain data were extracted from records. Patients with alternative gastrointestinal (GI) causes were excluded. Data were analyzed descriptively and compared with existing literature.</div></div><div><h3>Results</h3><div>Five patients (3 males, mean disease duration 14.4 years) met inclusion criteria. PxA was characterized by severe abdominal pain—described as twisting, squeezing, or tightness—that consistently occurred during WO states and frequently led to emergency department visits and repeated GI evaluations which were unremarkable. Symptoms were often associated with anxiety and panic attacks. Standard analgesics and GI therapies were largely ineffective. Extra carbidopa/levodopa doses provided variable relief; apomorphine bolus injections and continuous subcutaneous foslevodopa/foscarbidopa infusion appeared to offer significant benefit in eligible patients. PxA symptoms aligned best with the nociplastic category of the PD Pain Classification System.</div></div><div><h3>Conclusions</h3><div>PxA is a severe, non-motor complication of PD that likely represents a form of nociplastic pain linked to dopaminergic fluctuations. Increased awareness is needed to reduce misdiagnosis and inappropriate interventions. Further research is required to elucidate underlying mechanisms and guide targeted therapy.</div></div>","PeriodicalId":33691,"journal":{"name":"Clinical Parkinsonism Related Disorders","volume":"13 ","pages":"Article 100368"},"PeriodicalIF":1.9,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144654343","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":"“Does speech in patients with different Parkinson’s disease subtypes decline over time?”","authors":"Vanessa Brzoskowski dos Santos , Fernanda Venzke Zardin , Rui Rothe-Neves , Maira Rozenfeld Olchik","doi":"10.1016/j.prdoa.2025.100372","DOIUrl":"10.1016/j.prdoa.2025.100372","url":null,"abstract":"<div><h3>Purpose</h3><div>This study investigates whether speech changes over time in patients with different motor subtypes of Parkinson’s disease (PD).</div></div><div><h3>Methods</h3><div>This longitudinal study included 60 individuals with PD, classified into tremor-dominant (n = 42) and non-tremor-dominant (n = 18) subtypes according to the Movement Disorder Society Unified Parkinson’s Disease Rating Scale. Participants were assessed at three points: baseline, 12 months, and 24 months. Speech samples were collected from diadochokinesis (/pataka/) and 60-second monologue tasks. The analyzed acoustic variables included syllable number, duration, phonation time, articulation rate, average syllable duration (ASD), and pause ratio.</div></div><div><h3>Results</h3><div>There were no statistically significant differences between groups regarding age (p = 0.298), disease duration (p = 0.098), age at symptom onset (p = 0.879), HY (p = 0.895), and UPDRS (p = 0.224) at baseline. The tremor- and non-tremor-dominant subtypes did not show significant differences over time when analyzed separately in articulation time metrics. However, significant differences were observed between the subtypes in all variables of the diadochokinesia task, including the number of syllables (p < 0.001), phonation time (p < 0.001), articulation rate (p = 0.002), and ASD (p = 0.028). Regarding the trend analysis, for the monologue, the following were observed: dominant non-tremor [number of syllables (R<sup>2</sup> = 0.978), phonation time (R<sup>2</sup> = 0.860) and pause ratio (R<sup>2</sup> = 0.766)] and tremor [number of syllables (R<sup>2</sup> = 0.989) and phonation time (R<sup>2</sup> = 0.974)]. For the diadochokinesis: dominant non-tremor [number of syllables (R2 = 0.934) and phonation time (R<sup>2</sup> = 0.977)] and tremor [ASD (R<sup>2</sup> = 0.787)]</div></div><div><h3>Conclusion</h3><div>Over three years, the speech revealed that individuals with tremor and non-tremor subtypes exhibited stable patterns over time. Distinct speech differences emerged between the two groups, and articulation time metrics proved to be an effective tool for distinguishing between subtypes.This task emerged as a relevant approach from which biomarkers can be derived.</div></div>","PeriodicalId":33691,"journal":{"name":"Clinical Parkinsonism Related Disorders","volume":"13 ","pages":"Article 100372"},"PeriodicalIF":1.9,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144713042","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}