Journal of Movement Disorders最新文献_第2页

Dopamine Transporter Deficiency Syndrome: A Rare Case of Infantile-Onset Dystonia-Parkinsonism. 多巴胺转运蛋白缺乏综合征：一例罕见的婴儿起病性肌张力障碍-帕金森病。

IF 2.5 4区医学

Journal of Movement Disorders Pub Date : 2025-04-22 DOI: 10.14802/jmd.25057

Bhavani Madduluri, Garapati Divyateja, Sireesha Yareeda

引用次数: 0

Rare Yet Real: Rheumatic Chorea's Burden in the Modern Era- Case series from a Tertiary Health Care Centre in South India. 罕见但真实：风湿舞蹈病的负担在现代时代-案例系列从三级卫生保健中心在印度南部。

IF 2.5 4区医学

Journal of Movement Disorders Pub Date : 2025-04-22 DOI: 10.14802/jmd.25018

M K Farsana, Vikram V Holla, Nitish Kamble, Rohan R Mahale, Faheem Arshad, Pramod Kumar Pal, Ravi Yadav

引用次数: 0

Clinical and Genetic Characterization of Woodhouse-Sakati Syndrome in Iranian Patients: A Case Series. 伊朗患者Woodhouse-Sakati综合征的临床和遗传特征：一个病例系列。

IF 2.5 4区医学

Journal of Movement Disorders Pub Date : 2025-04-16 DOI: 10.14802/jmd.25043

Sepehr Khosravi, Toktam Moosavian, Shadab Salehpour, Seyed Amir Hassan Habibi, Afagh Alavi, Mohammad Rohani

{"title":"Clinical and Genetic Characterization of Woodhouse-Sakati Syndrome in Iranian Patients: A Case Series.","authors":"Sepehr Khosravi, Toktam Moosavian, Shadab Salehpour, Seyed Amir Hassan Habibi, Afagh Alavi, Mohammad Rohani","doi":"10.14802/jmd.25043","DOIUrl":"https://doi.org/10.14802/jmd.25043","url":null,"abstract":"Objective: Woodhouse-Sakati syndrome (WSS) is a rare autosomal recessive neuroendocrine disorder characterized by a variety of endocrine and neurological involvement, including extrapyramidal symptoms and intellectual disability.Methods: This report presents five Iranian patients with WSS with their genetic characterizations, also reporting the first Iranian patient to undergo Deep Brain Stimulation (DBS).Result: We highlight five Iranian patients with mutations in DCAF17 gene presenting with variable features of WSS, with symptom onset in early adolescence. Whole exome sequencing identified four homozygous variants (c.436delC, c.982-2A>G, c.580C>T, and c.838+1G>A) within the DCAF17 gene in the probands. Patients had variable responses to common therapies, and one patient achieved significant improvement following DBS.Conclusion: We expand the clinical and genetic heterogeneity among Iranian patients and suggest the c.436delC variant as a founder mutation in the region. We highlight the importance of considering WSS in patients with both neurological and endocrine symptoms and suggest DBS as a potential treatment option.","PeriodicalId":16372,"journal":{"name":"Journal of Movement Disorders","volume":" ","pages":""},"PeriodicalIF":2.5,"publicationDate":"2025-04-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143999456","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Current status of pelvic lateral shift in patients with Parkinson's disease and its relation to lateral trunk flexion. 帕金森病患者骨盆外侧移位的现状及其与躯干外侧屈曲的关系

IF 2.5 4区医学

Journal of Movement Disorders Pub Date : 2025-04-15 DOI: 10.14802/jmd.25017

Kyohei Mikami, Makoto Shiraishi, Akika Yoshimoto, Tsutomu Kamo

{"title":"Current status of pelvic lateral shift in patients with Parkinson's disease and its relation to lateral trunk flexion.","authors":"Kyohei Mikami, Makoto Shiraishi, Akika Yoshimoto, Tsutomu Kamo","doi":"10.14802/jmd.25017","DOIUrl":"https://doi.org/10.14802/jmd.25017","url":null,"abstract":"Objectives: A lack of standardized methods for evaluating postural abnormalities hinders treatment progress. The role of pelvic lateral shift (PLS) in patients with Parkinson's disease (PwP) exhibiting lateral trunk flexion (LTF) remains unclear. We hypothesized that PLS is related to LTF and investigated its characteristics and relationship to LTF angle.Methods: PwP attending outpatient rehabilitation (March 2018-March 2023) were assessed using still images. PLS direction, its relationship with LTF angle, and LTF angle by PLS side were analysed.Results: Among 158 patients, PLS was contralateral in 80 (50.6%), ipsilateral in 43 (27.2%), and absent in 35 (22.2%). In contralateral PLS, but not ipsilateral, PLS angle correlated with LTF angle (r=0.48, p<0.001). LTF angle was greater in contralateral (8.5±9.6°) than ipsilateral shift (2.8±4.2°, p<0.001).Conclusions: Because of the positive relationship between LTF angle and contralateral shift angle, evaluation criteria that include PLS are needed for PwP with LTF.","PeriodicalId":16372,"journal":{"name":"Journal of Movement Disorders","volume":" ","pages":""},"PeriodicalIF":2.5,"publicationDate":"2025-04-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144015779","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Comparison of Impact of Various Exercise Modalities on Parkinson's Disease. 不同运动方式对帕金森病影响的比较

IF 2.5 4区医学

Journal of Movement Disorders Pub Date : 2025-04-15 DOI: 10.14802/jmd.25038

Jinse Park, Sang-Myung Cheon, Myung Jun Lee, Dong-Woo Rhu, Dallah Yoo

{"title":"Comparison of Impact of Various Exercise Modalities on Parkinson's Disease.","authors":"Jinse Park, Sang-Myung Cheon, Myung Jun Lee, Dong-Woo Rhu, Dallah Yoo","doi":"10.14802/jmd.25038","DOIUrl":"https://doi.org/10.14802/jmd.25038","url":null,"abstract":"Background and purpose: Exercise is a critical non-pharmacological intervention for Parkinson's disease (PD); however, comparative evidence on the efficacy of different exercise modalities is limited. This study aimed to compare the effects of tai chi, strength training, yoga, and home-based exercises on motor in patients with Parkinson's disease (PD).Subject and methods: In this multicenter, open-label, randomized clinical trial, 99 patients with PD were allocated to one of four exercise interventions: tai chi, strength training, yoga, or home-based exercises. Each intervention consisted of 12 weeks of supervised sessions, followed by 12 weeks of independent practice. The primary outcomes included the MDS-UPDRS Part III and timed up-and-go (TUG) test parameters. The secondary outcomes assessed included physical activity (SPPB and 6 MWT), balance (Mini-BEST), and freezing of gait (NFOGQ).Results: Home exercise and tai chi demonstrated significant improvements in the MDS-UPDRS Part III scores over 24 weeks. 6 minutes walking test was improved by home exercises, tai chi, and MiniBest was enhanced by strength exercises and yoga. The total duration and forward movement of TUG and turning duration measuring by wearable sensor were markedly improved in yoga group.Conclusion: Our results support that various in adherence and outcomes of exercise have been observed in real-world setting even though effectiveness of exercise is well established. These findings highlighted the importance of tailoring exercise regimens considering individual patients in PD management.","PeriodicalId":16372,"journal":{"name":"Journal of Movement Disorders","volume":" ","pages":""},"PeriodicalIF":2.5,"publicationDate":"2025-04-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144063891","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Late-onset Ataxia, Chorea, Cognitive impairment, and Insomnia: Expanding the phenotype of IRF2BPL-related disease. 迟发性共济失调、舞蹈病、认知障碍和失眠：扩大irf2bpl相关疾病的表型

IF 2.5 4区医学

Journal of Movement Disorders Pub Date : 2025-04-15 DOI: 10.14802/jmd.25030

Salhin Alatrash, Mary O'Driscoll, Amrit-Deep Samra

引用次数: 0

Shoulder Dysfunction in Parkinson's Disease: Implications of Motor Subtypes, Disease Severity, and Spinopelvic Alignment. 帕金森病的肩部功能障碍：运动亚型、疾病严重程度和脊柱骨盆对齐的含义。

IF 2.5 4区医学

Journal of Movement Disorders Pub Date : 2025-04-08 DOI: 10.14802/jmd.25032

Sieh Yang Lee, Lay San Lim, Yun-Ru Lai, Cheng-Hsien Lu

{"title":"Shoulder Dysfunction in Parkinson's Disease: Implications of Motor Subtypes, Disease Severity, and Spinopelvic Alignment.","authors":"Sieh Yang Lee, Lay San Lim, Yun-Ru Lai, Cheng-Hsien Lu","doi":"10.14802/jmd.25032","DOIUrl":"https://doi.org/10.14802/jmd.25032","url":null,"abstract":"Purpose: To investigate shoulder function and muscle alterations in patients with Parkinson's disease (PD) and to determine their association with spinopelvic parameters and clinical status.Methods: This prospective cohort study included 62 PD patients (divided into PIGD [n=30] and non-PIGD [n=32] groups) and 35 controls. The American Shoulder and Elbow Surgeons score (ASES), range of motion (ROM), and shoulder muscle stiffness were assessed for each group. Data on clinical demographics, PD disease severity, and shoulder parameters were extracted and analyzed.Results: The PIGD group had significantly lower ASES total and sub-scores (all p < 0.05) compared to the controls. Both PIGD and non-PIGD groups demonstrated reduced abduction and forward flexion (all p < 0.05) compared to controls. The PIGD group also had decreased external rotation compared to the non-PIGD group and controls (all p < 0.05). Infraspinatus muscle stiffness was higher in the PIGD group than in controls (p = 0.012). Correlation analysis revealed that shoulder condition was significantly associated with PD disease severity and PIGD score, while muscle stiffness was linked to spinopelvic alignment and PIGD score. Various clinical factors, including PD disease severity, PIGD score, tremor score, and spinopelvic alignment, significantly correlated with shoulder ROM.Conclusion: PD patients experienced shoulder dysfunction in various ways, including decreased ASES scores, limited ROM, and increased shoulder muscle stiffness. Our study highlighted the impact of PD motor subtype, disease severity, and spinopelvic alignment on the development of shoulder dysfunction, offering deeper insights into the pathophysiological basis of shoulder disorders in PD.","PeriodicalId":16372,"journal":{"name":"Journal of Movement Disorders","volume":" ","pages":""},"PeriodicalIF":2.5,"publicationDate":"2025-04-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143803550","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Is there a link between progressive supranuclear palsy and bullous pemphigoid? 进行性核上性麻痹与大疱性类天疱疮之间是否存在联系？

IF 2.5 4区医学

Journal of Movement Disorders Pub Date : 2025-04-08 DOI: 10.14802/jmd.25019

Winn Hui Han, Shin Shen Yong, Zhenli Kwan, Shen-Yang Lim

引用次数: 0

A Cautionary Note on the Indication for Deep Brain Stimulation in Parkinsonism Patients with SLC9A6 Gene Mutations. SLC9A6基因突变帕金森病患者脑深部电刺激适应症的警示

IF 2.5 4区医学

Journal of Movement Disorders Pub Date : 2025-04-02 DOI: 10.14802/jmd.25054

Shohei Okusa, Toshiki Tezuka, Kenzo Kosugi, Yasuharu Yamamoto, Keisuke Takahata, Makoto Higuchi, Takenori Akiyama, Masahito Kobayashi, Masahiro Toda, Daisuke Ito, Jin Nakahara, Morinobu Seki

引用次数: 0

A Chinese Child With Dystonia Linked to the EIF2AK2 Missense Variant: A Case Report. 与EIF2AK2错义变异相关的中国儿童肌张力障碍1例报告。

IF 2.5 4区医学

Journal of Movement Disorders Pub Date : 2025-04-01 Epub Date: 2025-02-20 DOI: 10.14802/jmd.24215

Lifang Dai, Changhong Ren, Shenghan Guan, Xiaojuan Tian, Hui Xiong, Changhong Ding

引用次数: 0