Maria Chiara Malaguti, Alessio Di Fonzo, Chiara Longo, Raffaella Di Giacopo, Costanza Papagno, Davide Donner, Umberto Rozzanigo, Edoardo Monfrini
{"title":"A Novel Pathogenic PSEN1 Variant in a Patient With Dystonia-Parkinsonism Without Dementia.","authors":"Maria Chiara Malaguti, Alessio Di Fonzo, Chiara Longo, Raffaella Di Giacopo, Costanza Papagno, Davide Donner, Umberto Rozzanigo, Edoardo Monfrini","doi":"10.14802/jmd.23125","DOIUrl":"10.14802/jmd.23125","url":null,"abstract":"","PeriodicalId":16372,"journal":{"name":"Journal of Movement Disorders","volume":" ","pages":"102-105"},"PeriodicalIF":3.9,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10846968/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10233319","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Yueting Chen, Haotian Wang, Bo Wang, Wenbo Li, Panpan Ye, Wen Xu, Peng Liu, Xinhui Chen, Zhidong Cen, Zhiyuan Ouyang, Sheng Wu, Xiaofeng Dou, Yi Liao, Hong Zhang, Mei Tian, Wei Luo
{"title":"Retinal Thinning as a Marker of Disease Severity in Progressive Supranuclear Palsy.","authors":"Yueting Chen, Haotian Wang, Bo Wang, Wenbo Li, Panpan Ye, Wen Xu, Peng Liu, Xinhui Chen, Zhidong Cen, Zhiyuan Ouyang, Sheng Wu, Xiaofeng Dou, Yi Liao, Hong Zhang, Mei Tian, Wei Luo","doi":"10.14802/jmd.23102","DOIUrl":"10.14802/jmd.23102","url":null,"abstract":"<p><strong>Objective: </strong>Progressive supranuclear palsy (PSP) involves a variety of visual symptoms that are thought to be partially caused by structural abnormalities of the retina. However, the relationship between retinal structural changes, disease severity, and intracranial alterations remains unknown. We investigated distinct retinal thinning patterns and their relationship with clinical severity and intracranial alterations in a PSP cohort.</p><p><strong>Methods: </strong>We enrolled 19 patients with PSP (38 eyes) and 20 age-matched healthy controls (40 eyes). All of the participants underwent peripapillary and macular optical coherence tomography. Brain 11C-2β-carbomethoxy-3β-(4-fluorophenyl) tropane (11C-CFT) and 18F-fluorodeoxyglucose (18F-FDG) positron emission tomography imaging were also performed in patients with PSP. We investigated the association between retinal thickness changes and clinical features, striatal dopamine transporter availability, and cerebral glucose metabolism.</p><p><strong>Results: </strong>The peripapillary retinal nerve fiber layer (pRNFL) and macula were significantly thinner in patients with PSP than in controls. The thickness of the superior sector of the pRNFL demonstrated a significant negative relationship with the Movement Disorder Society-Unified Parkinson's Disease Rating Scale part III and Hoehn and Yahr staging scale scores. A significant negative correlation was found between outer inferior macular thickness and disease duration. Outer temporal macular thickness was positively correlated with Montreal Cognitive Assessment scores. In PSP, lower outer temporal macular thickness was also positively correlated with decreased dopamine transporter binding in the caudate.</p><p><strong>Conclusion: </strong>The pRNFL and macular thinning may be candidate markers for monitoring disease severity. Additionally, macular thinning may be an in vivo indicator of nigrostriatal dopaminergic cell degeneration in PSP patients.</p>","PeriodicalId":16372,"journal":{"name":"Journal of Movement Disorders","volume":" ","pages":"55-63"},"PeriodicalIF":3.9,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10846978/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41130532","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
In Hee Kwak, Young Eun Kim, Suk Yun Kang, Joong Seob Lee, Jeongjae Lee, Min Seung Kim, Dong A Yea, Hyeo-Il Ma
{"title":"Comparative Olfactory Profiles in Parkinson's Disease and Drug-Induced Parkinsonism.","authors":"In Hee Kwak, Young Eun Kim, Suk Yun Kang, Joong Seob Lee, Jeongjae Lee, Min Seung Kim, Dong A Yea, Hyeo-Il Ma","doi":"10.14802/jmd.23105","DOIUrl":"10.14802/jmd.23105","url":null,"abstract":"<p><strong>Objective: </strong>Drug-induced parkinsonism (DIP) is a frequently encountered diagnostic possibility when considering Parkinson's disease (PD). While olfactory dysfunction is a common clinical feature in PD, the comparison of olfactory function between the two conditions remains insufficient. This study aimed to compare olfactory function, including threshold, discrimination, and identification (TDI) profiles, between PD and DIP.</p><p><strong>Methods: </strong>Consecutive patients with drug-naïve PD (n = 78) or DIP (n = 31) confirmed through dopamine transporter imaging were enrolled in this study. The YSK olfactory function (YOF) test, composed of TDI domains culturally familiar odorants to Koreans, was administered to all patients.</p><p><strong>Results: </strong>In the study population, patients with DIP were significantly older than patients with PD. Over 70% of patients in each group had hyposmia or anosmia, and there was no significant difference in the occurrence of olfactory dysfunction between the two groups. In addition, there were no differences in the total YOF score and threshold score between the two groups. Meanwhile, the PD group had a significantly lower discrimination and identification score than the DIP group after adjusting for age, sex, the existence of diabetes, disease duration, and cognitive function.</p><p><strong>Conclusion: </strong>This study demonstrated that detailed olfactory profiles are different in PD and DIP, even though olfactory dysfunction can be observed in both conditions.</p>","PeriodicalId":16372,"journal":{"name":"Journal of Movement Disorders","volume":" ","pages":"64-70"},"PeriodicalIF":3.9,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10846967/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41133583","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Vikram V Holla, Manjunath Netravathi, Nitish Kamble, Jitender Saini, Pramod Kumar Pal
{"title":"\"Face of the Giant Panda\" Sign and Bilateral Thalamic Hyperintensity in Isoniazid-Induced Ataxia.","authors":"Vikram V Holla, Manjunath Netravathi, Nitish Kamble, Jitender Saini, Pramod Kumar Pal","doi":"10.14802/jmd.23112","DOIUrl":"10.14802/jmd.23112","url":null,"abstract":"","PeriodicalId":16372,"journal":{"name":"Journal of Movement Disorders","volume":" ","pages":"99-101"},"PeriodicalIF":3.9,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10846966/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9920289","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Victoria Sidoroff, Federico Carbone, Philipp Ellmerer, Stefanie Bair, Alexandra Hoffmann, Thomas Maran, Florian Krismer, Philipp Mahlknecht, Katherina Mair, Cecilia Raccagni, Jean-Pierre Ndayisaba, Klaus Seppi, Gregor K Wenning, Atbin Djamshidian
{"title":"Emotion Recognition in Multiple System Atrophy: An Exploratory Eye-Tracking Study.","authors":"Victoria Sidoroff, Federico Carbone, Philipp Ellmerer, Stefanie Bair, Alexandra Hoffmann, Thomas Maran, Florian Krismer, Philipp Mahlknecht, Katherina Mair, Cecilia Raccagni, Jean-Pierre Ndayisaba, Klaus Seppi, Gregor K Wenning, Atbin Djamshidian","doi":"10.14802/jmd.23090","DOIUrl":"10.14802/jmd.23090","url":null,"abstract":"<p><strong>Objective: </strong>Emotional processing is a core feature of social interactions and has been well studied in patients with idiopathic Parkinson's disease (PD), albeit with contradictory.</p><p><strong>Results: </strong>. However, these studies excluded patients with atypical parkinsonism, such as multiple system atrophy (MSA). The objective of this exploratory study was to provide better insights into emotion processing in patients with MSA using eye tracking data.</p><p><strong>Methods: </strong>We included 21 MSA patients, 15 PD patients and 19 matched controls in this study. Participants performed a dynamic and a static emotion recognition task, and gaze fixations were analyzed in different areas of interest. Participants underwent neuropsychological testing and assessment of depression and alexithymia.</p><p><strong>Results: </strong>MSA patients were less accurate in recognizing anger than controls (p = 0.02) and had overall fewer fixations than controls (p = 0.001). In the static task, MSA patients had fewer fixations (p < 0.001) and a longer time to first fixation (p = 0.026) on the eye region. Furthermore, MSA patients had a longer fixation duration overall than PD patients (p = 0.004) and longer fixations on the nose than controls (p = 0.005). Alexithymia scores were higher in MSA patients compared to controls (p = 0.038).</p><p><strong>Conclusion: </strong>This study demonstrated impaired recognition of anger in MSA patients compared to HCs. Fewer and later fixations on the eyes along with a center bias suggest avoidance of eye contact, which may be a characteristic gaze behavior in MSA patients.</p>","PeriodicalId":16372,"journal":{"name":"Journal of Movement Disorders","volume":" ","pages":"38-46"},"PeriodicalIF":3.9,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10846972/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41121027","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Jungyeun Lee, Hwa Jung Ryu, Soon Young Hwang, Seong-Beom Koh
{"title":"Hair Loss: A Well-Known Yet Understudied Symptom in Parkinson's Disease Patients During Dopaminergic Therapy.","authors":"Jungyeun Lee, Hwa Jung Ryu, Soon Young Hwang, Seong-Beom Koh","doi":"10.14802/jmd.23088","DOIUrl":"10.14802/jmd.23088","url":null,"abstract":"<p><strong>Objective: </strong>Hair loss has been reported to occur during dopaminergic therapy in patients with Parkinson's disease. The mechanism by which dopaminergic therapy induces hair loss is not well understood. Dopamine receptors are present in the hair follicle, where they regulate melanin production. However, the role of dopamine receptors in hair growth is still not well understood. This study aimed to evaluate the prevalence of hair loss and identify factors associated with complaints of hair loss in patients with Parkinson's disease.</p><p><strong>Methods: </strong>A cross-sectional design involving 495 Parkinson's disease patients was applied to evaluate hair loss status. Patients completed a questionnaire, and scalp/hair examinations were performed. Patients with underlying conditions that could affect hair loss and those prescribed medications known to increase the risk of hair loss were excluded. Finally, 291 patients (58.8%) were included for analysis.</p><p><strong>Results: </strong>Among the 495 patients, 138 (27.9%) reported hair loss. Interestingly, more than half of the patients who complained of hair loss (79 out of 138) did not utilize treatments such as hair products, massage, dietary modifications, or alopecia medications. Hair inspection by a single investigator revealed objective hair loss in 263 patients (53.1%). An analysis of factors associated with hair loss complaints showed that the intake of dopaminergic medications with a levodopa-equivalent daily dose > 448 mg was associated with complaints of hair loss.</p><p><strong>Conclusion: </strong>Dopaminergic medication is associated with hair loss complaints in Parkinson's disease patients.</p>","PeriodicalId":16372,"journal":{"name":"Journal of Movement Disorders","volume":" ","pages":"47-54"},"PeriodicalIF":3.9,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10846976/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41148096","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Jun Seok Lee, Seongmi Kim, Jongmok Ha, Jinyoung Youn, Jin Whan Cho, Jong Hyeon Ahn
{"title":"A Case of Post-Malaria Neurological Syndrome Presenting With Cortical Tremor.","authors":"Jun Seok Lee, Seongmi Kim, Jongmok Ha, Jinyoung Youn, Jin Whan Cho, Jong Hyeon Ahn","doi":"10.14802/jmd.23164","DOIUrl":"10.14802/jmd.23164","url":null,"abstract":"","PeriodicalId":16372,"journal":{"name":"Journal of Movement Disorders","volume":" ","pages":"115-117"},"PeriodicalIF":3.9,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10846977/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"71424298","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Analysis of Semiology, Lesion Topography and Treatment Outcomes: A Prospective Study on Post Thalamic Stroke Holmes Tremor.","authors":"Amlan Kusum Datta, Adreesh Mukherjee, Sudeshna Malakar, Atanu Biswas","doi":"10.14802/jmd.23095","DOIUrl":"10.14802/jmd.23095","url":null,"abstract":"<p><strong>Objective: </strong>Holmes tremor (HT) comprises rest, postural and intention tremor subtypes, usually involving both proximal and distal musculature. Perturbations of nigro-striatal pathways might be fundamental in the pathogenesis of HT along with cerebello-thalamic connections.</p><p><strong>Methods: </strong>Nine patients with an HT phenotype secondary to thalamic stroke were included. Epidemiological and clinical records were obtained. Structural and functional brain imaging were performed with magnetic resonance imaging (MRI) or computed tomography (CT) and positron emission tomography (PET), respectively. Levodopa was administered in sequentially increasing dosage, with various other drugs in case of inadequate response. Longitudinal follow-up was performed for at least three months. The essential tremor rating assessment scale (TETRAS) was used for assessment.</p><p><strong>Results: </strong>The mean latency from stroke to tremor onset was 50.4 ± 30.60 days (range 21-90 days). Dystonia was the most frequently associated hyperkinetic movement (88.8%). Tremor was bilateral in 22.2% of participants. Clinical response was judged based on a reduction in the TETRAS score by a prefixed value (≥ 30%), pertaining to which 55.5% (n = 5) of subjects were classified as responders and the rest as non-responders. The responders showed improvement with significantly lower doses of levodopa than the remaining nonresponders (240 ± 54.7 mg vs. 400 ± 40.8 mg; p = 0.012).</p><p><strong>Conclusion: </strong>Although levodopa is useful in HT, augmenting the dosage of levodopa beyond a certain point might not benefit patients clinically. Topography of vascular lesions within the thalamus might additionally influence the phenomenology of HT.</p>","PeriodicalId":16372,"journal":{"name":"Journal of Movement Disorders","volume":" ","pages":"71-81"},"PeriodicalIF":3.9,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10846970/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"49678466","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Jaw Opening Myoclonus in Subacute Sclerosing Panencephalitis: A New Phenotypic Observation.","authors":"Divyani Garg, Vanshika Kakkar, Suvasini Sharma","doi":"10.14802/jmd.23158","DOIUrl":"10.14802/jmd.23158","url":null,"abstract":"","PeriodicalId":16372,"journal":{"name":"Journal of Movement Disorders","volume":" ","pages":"106-108"},"PeriodicalIF":3.9,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10846980/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10286248","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}