Clinical Parkinsonism Related Disorders最新文献

{"title":"SPG7 mutation – Novel phenotypic presentation mimicking idiopathic Parkinson’s disease","authors":"Karri Madhavi, Rukmini Mridula Kandadai, Sruthi Kola, Rupam Borgohain, Rajesh Alugolu, VVSRK Prasad","doi":"10.1016/j.prdoa.2024.100280","DOIUrl":"10.1016/j.prdoa.2024.100280","url":null,"abstract":"","PeriodicalId":33691,"journal":{"name":"Clinical Parkinsonism Related Disorders","volume":"11 ","pages":"Article 100280"},"PeriodicalIF":1.9,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142651162","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":"Clinical prediction of GBA carrier status in Parkinson’s disease","authors":"Julia Greenberg ,&nbsp;Kelly Astudillo ,&nbsp;Steven J. Frucht ,&nbsp;Adeen Flinker ,&nbsp;Giulietta M. Riboldi","doi":"10.1016/j.prdoa.2024.100251","DOIUrl":"https://doi.org/10.1016/j.prdoa.2024.100251","url":null,"abstract":"<div><h3>Introduction</h3><p>Given the unique natural history of <em>GBA</em>-related Parkinson’s disease (<em>GBA</em>-PD) and the potential for novel treatments in this population, genetic testing prioritization for the identification of <em>GBA</em>-PD patients is crucial for prognostication, individualizing treatment, and stratification for clinical trials. Assessing the predictive value of certain clinical traits for the <em>GBA</em>-variant carrier status will help target genetic testing in clinical settings where cost and access limit its availability.</p></div><div><h3>Methods</h3><p>In-depth clinical characterization through standardized rating scales for motor and non-motor symptoms and self-reported binomial information of a cohort of subjects with PD (n = 100) from our center and from the larger cohort of the Parkinson’s Progression Marker Initiative (PPMI) was utilized to evaluate the predictive values of clinical traits for <em>GBA</em> variant carrier status. The model was cross-validated across the two cohorts.</p></div><div><h3>Results</h3><p>Leveraging non-motor symptoms of PD, we established successful discrimination of <em>GBA</em> variants in the PPMI cohort and study cohort (AUC 0.897 and 0.738, respectively). The PPMI cohort model successfully generalized to the study cohort data using both MDS-UPDRS scores and binomial data (AUC 0.740 and 0.734, respectively) while the study cohort model did not.</p></div><div><h3>Conclusions</h3><p>We assessed the predictive value of non-motor symptoms of PD for identifying <em>GBA</em> carrier status in the general PD population. These data can be used to determine a simple, clinically oriented model using either the MDS-UPDRS or subjective symptom reporting from patients. Our results can inform patient counseling about the expected carrier risk and test prioritization for the expected identification of <em>GBA</em> variants.</p></div>","PeriodicalId":33691,"journal":{"name":"Clinical Parkinsonism Related Disorders","volume":"10 ","pages":"Article 100251"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2590112524000227/pdfft?md5=b31ac295a3ba583c0d89bd9fdec5c51e&pid=1-s2.0-S2590112524000227-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140551589","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":"Impulse control and related behavioral disorders (ICRD) in Idiopathic Parkinson’s Disease treated with different dopamine agonists in Hong Kong: Is any dopamine agonist better?","authors":"Hiu Fung Wu ,&nbsp;Ellen Lok Man Yu ,&nbsp;Bun Sheng ,&nbsp;Kwok Kui Wong ,&nbsp;Man Au Yeung ,&nbsp;Wa Tai Wong ,&nbsp;Hon Hang Kwan ,&nbsp;Lun Pei Ng ,&nbsp;Chun Hin Cheung ,&nbsp;Yan Lok Lam ,&nbsp;Yat Kwan Chan","doi":"10.1016/j.prdoa.2024.100235","DOIUrl":"https://doi.org/10.1016/j.prdoa.2024.100235","url":null,"abstract":"<div><h3>Objective</h3><p>To assess the incidence of Impulse control and related behavioral disorders (ICRD) in Chinese Idiopathic Parkinson Disease (IPD) patients treated with different dopamine agonists (DA), and their clinical characteristics and associated risk factors.</p></div><div><h3>Methods</h3><p>This was an observational cohort study based on clinical interviews and medical records of IPD patients treated with DA for &gt;6 months in three hospitals in Hong Kong. The short version of Questionnaire for Impulsive-Compulsive Disorders in Parkinson’s Disease (QUIP-S) was used to screen for ICRD. ICRD incidence among different DA, clinical characteristics and risk factors were examined.</p></div><div><h3>Results</h3><p>Incidence of ICRD was analyzed in 311 patients taking their first, single DA. 43 patients (13.8 %) developed ICRD. The mean duration of IPD was 8.5 ± 5.6 years and median HY stage was 2.5. Bromocriptine and rotigotine users had lower ICRD incidence rate. Both pramipexole [adjusted HR 7.28 (2.46–21.54), p &lt; 0.001] and ropinirole [adjusted HR 6.53 (2.67–15.99), p &lt; 0.001] were independently associated with higher risk of ICRD compared to bromocriptine in multivariate analysis. Similarly, pramipexole and ropinirole appeared to carry higher risk compared to rotigotine but did not reach statistical significance. Male [adjusted HR 2.24 (1.07–4.72), p = 0.033], younger IPD onset [adjusted HR 2.99 (1.44–6.19) for onset &lt; 50 year, p = 0.003] and history of psychiatric disorders [adjusted HR 2.80 (1.39–5.62), p = 0.004] were other independent risk factors.</p></div><div><h3>Conclusion</h3><p>Bromocriptine and probably rotigotine carried a lower ICRD risk compared to pramipexole and ropinirole.</p></div>","PeriodicalId":33691,"journal":{"name":"Clinical Parkinsonism Related Disorders","volume":"10 ","pages":"Article 100235"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2590112524000045/pdfft?md5=9fc58f77d2de8691adeff611604c5e99&pid=1-s2.0-S2590112524000045-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139406308","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":"Multiple system atrophy: Diagnostic challenges and a proposed diagnostic algorithm","authors":"Deepmala Nandanwar,&nbsp;Daniel D. Truong","doi":"10.1016/j.prdoa.2024.100271","DOIUrl":"10.1016/j.prdoa.2024.100271","url":null,"abstract":"<div><div>Multiple system atrophy (MSA) is a heterogenous condition, presenting with core clinical features of autonomic dysfunction, parkinsonism, and/or cerebellar ataxia. The presence of alpha-synuclein glial cytoplasmic inclusion is the hallmark of MSA. It shares a common pathological origin with Parkinson’s disease (PD) and Lewy body dementia (DLB) and they are collectively grouped as “synucleinopathies.” The pathological synuclein protein is now well- recognized in skin biopsies of these patients. Besides the pathological findings, radiological investigation is a useful diagnostic tool. Brain MRI helps rule out other etiologies, and findings like the “Hot-cross bun” sign, “putaminal atrophy,” and “infratentorial findings” can assist with the diagnosis of MSA. Cardiac MIBG scan, autonomic testing, urodynamic studies can help differentiate MSA from other conditions. Although diagnostic tools are available for MSA diagnosis, clarity is needed on when to use these tests. We suggest a diagnostic algorithm to navigate the use of these tests. However, this algorithm is not intended to replace the use of current MDS diagnostic criteria of MSA.</div></div>","PeriodicalId":33691,"journal":{"name":"Clinical Parkinsonism Related Disorders","volume":"11 ","pages":"Article 100271"},"PeriodicalIF":1.9,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142323899","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":"Corrigendum to “Recommendations for a paradigm shift in approach to increase the recognition and treatment of sialorrhea in Parkinson’s disease” [Clin. Parkinsonism Related Dis. 9 (2023) 100223]","authors":"Bruno Bergmans ,&nbsp;Veronica Clark ,&nbsp;Stuart H. Isaacson ,&nbsp;Tobias Bäumer","doi":"10.1016/j.prdoa.2024.100250","DOIUrl":"10.1016/j.prdoa.2024.100250","url":null,"abstract":"","PeriodicalId":33691,"journal":{"name":"Clinical Parkinsonism Related Disorders","volume":"10 ","pages":"Article 100250"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2590112524000215/pdfft?md5=048097608faca594fde04c083b24c4b3&pid=1-s2.0-S2590112524000215-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140777761","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":"Retrospective analyses evaluating the mortality risk associated with pimavanserin or other atypical antipsychotics in patients with Parkinson disease psychosis","authors":"Stuart H. Isaacson ,&nbsp;Rajesh Pahwa ,&nbsp;Fernando Pagan ,&nbsp;Victor Abler ,&nbsp;Daniel Truong","doi":"10.1016/j.prdoa.2024.100256","DOIUrl":"https://doi.org/10.1016/j.prdoa.2024.100256","url":null,"abstract":"<div><h3>Introduction</h3><p>Parkinson’s disease (PD) is associated with increased mortality risk (MR), reflecting progression of motor and nonmotor symptoms. PD psychosis (PDP), a common nonmotor symptom, increases with prolonged disease and elevates the MR of PD even further. Pimavanserin is the only FDA–approved treatment for PDP. This review summarizes real-world evidence around the MR of patients with PDP treated with pimavanserin versus off-label atypical antipsychotics.</p></div><div><h3>Methods</h3><p>A PubMed search was conducted using the following search terms: <em>pimavanserin</em> AND <em>antipsychotic</em> AND <em>mortality</em> AND <em>Parkinson’s disease</em> AND <em>psychosis</em>. Inclusion criteria specified the entry of retrospective, observational, and open-label studies comparing pimavanserin to atypical antipsychotics or untreated controls.</p></div><div><h3>Results</h3><p>A total of 10 of the 32 articles met inclusion criteria. Among five comparisons of pimavanserin with atypical antipsychotics, two were large (n = 21,719; n = 21,975), representative, Medicare-database studies, which demonstrated comparable or lower all-cause pimavanserin MR. Among three pimavanserin versus control studies, two reported lower or comparable pimavanserin MR and one, long-term care study reported higher MR for pimavanserin versus non-pimavanserin treated patients with unknown PDP status. Two open-label extensions reported pimavanserin mortality rates of 6.45 and 18.8 deaths per 100 patient-years, which are comparable to, or lower than, mortality rates for PD, PDP, and other atypical antipsychotics. Most studies (70 %; 7 of 10) demonstrated pimavanserin’s MR was lower than or similar to other atypical antipsychotics or untreated controls.</p></div><div><h3>Conclusions</h3><p>Pimavanserin did not increase the MR in PDP. Pimavanserin’s MR appears to be comparable to or lower than other atypical antipsychotics prescribed for PDP, including quetiapine.</p></div>","PeriodicalId":33691,"journal":{"name":"Clinical Parkinsonism Related Disorders","volume":"10 ","pages":"Article 100256"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2590112524000276/pdfft?md5=80617a944c3e1b63d785e65ea66903a6&pid=1-s2.0-S2590112524000276-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140902258","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":"Bowel movement frequency and difficult defecation using constipation assessment scale in patients with isolated REM sleep behavior disorder","authors":"Tomoyuki Miyamoto ,&nbsp;Itsuo Nakajima ,&nbsp;Takuo Arikawa ,&nbsp;Masayuki Miyamoto","doi":"10.1016/j.prdoa.2024.100269","DOIUrl":"10.1016/j.prdoa.2024.100269","url":null,"abstract":"<div><h3>Introduction</h3><p>This study evaluated constipation, including reduced bowel movement frequency and difficult defecation, in patients with isolated rapid eye movement sleep behavior disorder (IRBD), which is prodromal Parkinson’s disease (PD) or dementia with Lewy bodies (DLB) in middle-aged and older adults.</p></div><div><h3>Methods</h3><p>We used a validated Japanese version of the Constipation Assessment Scale (CAS-J) to evaluate bowel habits over 1 month in 117 men aged 50–86 years and 34 women aged 56–86 years with video-polysomnography-confirmed IRBD and 22 controls. Furthermore, we performed a longitudinal assessment of outcomes at follow-up visits.</p></div><div><h3>Results</h3><p>The CAS-J score was higher in the 22 IRBD patients than in 22 age- and gender-matched paired controls. In 151 IRBD patients, the CAS-J score was higher for women than for men. At baseline, the CAS-J score was similar between patients who developed PD and DLB, but the three IRBD patients who developed multiple system atrophy had a low CAS-J score. Those with constipation (CAS-J score ≥ 2) converted to PD or DLB in a significantly shorter time duration (i.e., time frame for phenoconversion) than those with CAS-J score &lt; 2 (log-rank test, p &lt; 0.001). When adjusted for age and gender, Cox hazards analysis revealed that the CAS-J score significantly predicted phenoconversion to PD or DLB (hazard ratio: 5.9, 95 % confidence interval: 1.8–19.1, p = 0.003).</p></div><div><h3>Conclusions</h3><p>Constipation, i.e., reduced bowel movement frequency and difficult defecation, was common in middle-aged and elderly patients with IRBD, and CAS-J score predicted phenoconversion to PD or DLB.</p></div>","PeriodicalId":33691,"journal":{"name":"Clinical Parkinsonism Related Disorders","volume":"11 ","pages":"Article 100269"},"PeriodicalIF":1.9,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2590112524000409/pdfft?md5=c5545a14e1c40bf7c693efe11531c826&pid=1-s2.0-S2590112524000409-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142136911","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":"Overview of management of infection-related movement disorders with focus on specific-infections","authors":"Vikram V Holla,&nbsp;Pramod Kumar Pal","doi":"10.1016/j.prdoa.2024.100233","DOIUrl":"https://doi.org/10.1016/j.prdoa.2024.100233","url":null,"abstract":"<div><p>Infections are important treatable causes of secondary movement disorders (MD) that can have heterogeneous presentations. According to various studies, infection-related movement disorders (IRMD) account for around 10–20% of secondary MD. Certain infections have a predilection for causing various MD, and some MD phenomenologies, such as acute cerebellar ataxia and opsoclonus-myoclonus-ataxia syndromes (OMAS), suggest a strong possibility of an underlying infectious cause. The underlying pathophysiology is multifaceted, including direct neuronal damage due to neurotropism, granulomas, abscesses causing structural damage, and inflammatory and autoimmune responses triggered by infections. Understanding the prevalence, spectrum, and pattern of these IRMD and common infections that are responsible helps in early diagnosis, and instituting appropriate, timely treatment, thereby improving the overall prognosis and avoiding unnecessary investigations. In this review, we aim to provide a brief overview of common infections associated with MD, common clinical presentations of IRMD, their underlying pathophysiology, and overall approach to their treatment, with a focus on specific treatments of prevalent and treatable IRMD.</p></div>","PeriodicalId":33691,"journal":{"name":"Clinical Parkinsonism Related Disorders","volume":"10 ","pages":"Article 100233"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2590112524000021/pdfft?md5=ca70abdf85ebe008ab63006d440c55ea&pid=1-s2.0-S2590112524000021-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139493773","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":"Parkinsonism-hyperpyrexia, a rare consequence of deep brain stimulator malfunction in advanced Parkinson’s disease","authors":"Manuel Díaz Castela ,&nbsp;Patricia Prendes Fernández ,&nbsp;Sonia Heres Bruck ,&nbsp;Esther Suárez San Martín ,&nbsp;Ciara García Fernández ,&nbsp;Javier Sol Álvarez ,&nbsp;Beatriz Lozano Aragoneses ,&nbsp;Antonio Sáiz Ayala ,&nbsp;Elena Santamarta Liébana ,&nbsp;Juan Álvarez Carriles ,&nbsp;Lorena González Álvarez ,&nbsp;Marta Blázquez Estrada","doi":"10.1016/j.prdoa.2024.100246","DOIUrl":"https://doi.org/10.1016/j.prdoa.2024.100246","url":null,"abstract":"<div><p>Parkinsonism-hyperpyrexia syndrome (PHS) is a rare neurological emergency that shares clinical features with neuroleptic malignant syndrome. It is usually due to sudden deprivation of dopaminergic treatment, although there are cases related to failure of the deep brain stimulation system.</p></div>","PeriodicalId":33691,"journal":{"name":"Clinical Parkinsonism Related Disorders","volume":"10 ","pages":"Article 100246"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S259011252400015X/pdfft?md5=ff117bd2722a35e563a085562755c8cc&pid=1-s2.0-S259011252400015X-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139999110","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":"Determination of optimal vibration dose to treat Parkinson's disease gait symptoms: A clinical trial","authors":"Ingrid Pretzer-Aboff ,&nbsp;R.K. Elswick ,&nbsp;Arnaud Gouelle ,&nbsp;Noah Helm ,&nbsp;GinaMari Blackwell ,&nbsp;Leslie Cloud","doi":"10.1016/j.prdoa.2024.100248","DOIUrl":"https://doi.org/10.1016/j.prdoa.2024.100248","url":null,"abstract":"<div><h3>Introduction</h3><p>Most people with Parkinson's disease (PD) will experience gait problems. Previous studies demonstrated improved gait and balance after vibration stimulation was applied to the feet of PD patients. However, not all study participants showed improvement, perhaps due to sub-optimal vibration stimulus. Thus far, the optimal frequency and amplitude of vibration for mitigating gait dysfunction in PD have yet to be systematically explored. This study aimed to deliver vibration to the feet of 26 people with PD gait disturbances. We hypothesized that a global frequency, amplitude, and minimum duration of vibration therapy are required to improve PD gait issues.</p></div><div><h3>Methods</h3><p>This was a phase Ib trial to identify optimal vibration parameters. Thirteen participants were recruited at Hoehn &amp; Yahr (H&amp;Y) stage II and 13 participants at stage III. Each group was randomly assigned to different frequency and amplitude settings prescribed by the central composite design methodology. Each participant received vibration for 18 min per walking session, for eight sessions spread over one week.</p></div><div><h3>Results</h3><p>Results showed an optimal response to treatment for frequency (Hz) and amplitude (mm) of vibration based on the Functional Ambulation Performance score for stages II and III. In the H&amp;Y stage II group, stabilization of outcomes occurred after the 4th treatment. This stabilization was not seen in stage III participants.</p></div><div><h3>Conclusions</h3><p>A global frequency and vibration amplitude have been identified for treating PD gait disorders. Patients with more advanced disease may require a longer duration of therapy.</p></div>","PeriodicalId":33691,"journal":{"name":"Clinical Parkinsonism Related Disorders","volume":"10 ","pages":"Article 100248"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2590112524000173/pdfft?md5=97c93fb562bc1a677ea7f53ace4eb5bd&pid=1-s2.0-S2590112524000173-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140180019","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}