Journal of Movement Disorders

Clinical and Genetic Characterization of Woodhouse-Sakati Syndrome in Iranian Patients: A Case Series: Sepehr Khosravi, Toktam Moosavian, Shadab Salehpour, Seyed Amir Hassan Habibi, Afagh Alavi, Mohammad Rohani; Received February 17, 2025 Accepted April 15, 2025 Published online April 16, 2025; DOI: https://doi.org/10.14802/jmd.25043 [Accepted]

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Abstract PDF: 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.

Comparison of Impact of Various Exercise Modalities on Parkinson’s Disease: Jinse Park, Sang-Myung Cheon, Myung Jun Lee, Dong-Woo Rhu, Dallah Yoo; Received February 13, 2025 Accepted April 15, 2025 Published online April 15, 2025; DOI: https://doi.org/10.14802/jmd.25038 [Accepted]

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Abstract PDF: 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

Late-onset Ataxia, Chorea, Cognitive impairment, and Insomnia: Expanding the phenotype of IRF2BPL-related disease: Salhin Alatrash, Mary O’Driscoll, Amrit-Deep Samra; Received February 5, 2025 Accepted April 15, 2025 Published online April 15, 2025; DOI: https://doi.org/10.14802/jmd.25030 [Accepted]

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Current status of pelvic lateral shift in patients with Parkinson’s disease and its relation to lateral trunk flexion: Kyohei Mikami, Makoto Shiraishi, Akika Yoshimoto, Tsutomu Kamo; Received January 25, 2025 Accepted April 15, 2025 Published online April 15, 2025; DOI: https://doi.org/10.14802/jmd.25017 [Accepted]

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Abstract PDF: 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.

Shoulder Dysfunction in Parkinson's Disease: Implications of Motor Subtypes, Disease Severity, and Spinopelvic Alignment: Sieh Yang Lee, Lay San Lim, Yun-Ru Lai, Cheng-Hsien Lu; Received February 6, 2025 Accepted April 8, 2025 Published online April 8, 2025; DOI: https://doi.org/10.14802/jmd.25032 [Accepted]

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Abstract PDF: 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.

Is there a link between progressive supranuclear palsy and bullous pemphigoid?: Winn Hui Han, Shin Shen Yong, Zhenli Kwan, Shen-Yang Lim; Received January 27, 2025 Accepted April 8, 2025 Published online April 8, 2025; DOI: https://doi.org/10.14802/jmd.25019 [Accepted]

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A Cautionary Note on the Indication for Deep Brain Stimulation in Parkinsonism Patients with SLC9A6 Gene Mutations: Shohei Okusa, Toshiki Tezuka, Kenzo Kosugi, Yasuharu Yamamoto, Keisuke Takahata, Makoto Higuchi, Takenori Akiyama, Masahito Kobayashi, Masahiro Toda, Daisuke Ito, Jin Nakahara, Morinobu Seki; Received March 6, 2025 Accepted April 2, 2025 Published online April 2, 2025; DOI: https://doi.org/10.14802/jmd.25054 [Accepted]

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Early onset cataracts as a clinical clue to DJ-1-related parkinsonism: Sahil Mehta, Jagdeep Singh, Saurabh Mishra, Vivek Lal; Received January 22, 2025 Accepted March 24, 2025 Published online March 24, 2025; DOI: https://doi.org/10.14802/jmd.25016 [Accepted]

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Feasibility of a Multidomain Intervention for Safe Mobility in People with Parkinson’s Disease and Recurrent Falls: Natalie E Allen, Lina Goh, Colleen G Canning, Catherine Sherrington, Lindy Clemson, Jacqueline CT Close, Stephen R Lord, Simon J G Lewis, Simone Edwards, Susan Harkness, Roslyn Savage, Lyndell Webster, Genevieve Zelma, Serene S Paul; Received November 19, 2024 Accepted March 14, 2025 Published online March 14, 2025; DOI: https://doi.org/10.14802/jmd.24237 [Accepted]

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Abstract PDF: Objective
Mobility limitations and falls are common in people with Parkinson’s disease (PwP). A tailored, multidomain intervention has the potential to be more effective in improving mobility safety and preventing falls than exercise alone. This study aimed to explore the feasibility and potential effectiveness of a multidomain fall prevention intervention (Integrate) designed for PwP who fall frequently.
Methods
The home-based intervention was delivered over 6 months by occupational therapists and physiotherapists. The personalized intervention incorporated home fall-hazard reduction, exercise and safer mobility behavior training. Participants received 8 to 12 home visits, and where required, were supported by care-partners to undertake the intervention.
Results
Twenty-nine people (49% recruitment rate, 10% drop-out rate) with moderate to advanced Parkinson’s disease, a history of recurrent falls and mild to moderate cognitive impairment participated, with 26 completing the study. Adherence was moderate to high and there were no adverse events related to the intervention. Twenty-one (81%) participants met or exceeded their safer mobility goal on the Goal Attainment Scale. Participants had a median 1.0 point clinically meaningful improvement on the Short Physical Performance Battery. An exploratory analysis indicated fall rates reduced by almost 50% in the six-month follow-up period (IRR 0.51, 95% CI 0.28 – 0.92).
Conclusions
A multidomain occupational therapy and physiotherapy intervention for PwP with recurrent falls was feasible and appeared to improve mobility safety. A randomized trial powered to detect effects on falls and mobility is warranted.

The association between the triglyceride-glucose index and the incidence risk of Parkinson’s disease: A nationwide cohort study: Yoonkyung Chang, Ju-young Park, Ji Young Yun, Tae-Jin Song; Received June 9, 2024 Accepted February 26, 2025 Published online February 27, 2025; DOI: https://doi.org/10.14802/jmd.24131 [Accepted]

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Abstract PDF: Objective
We aimed to investigate the association between the triglyceride-glucose index, which measures insulin resistance, and the incidence risk of Parkinson’s disease.
Methods
Our study used the Health Screening Cohort database of the National Health Insurance Service of South Korea (2002–2019). We included 310,021 participants who had no previous history of Parkinson’s disease and for which more than 3 triglyceride-glucose index measurements were available. A diagnosis of Parkinson’s disease was determined using the code of the International Classification of Diseases 10th edition (G20) with a specific reimbursement code for rare intractable diseases and a history of prescriptions for anti-Parkinsonism drugs.
Results
During a median of 9.64 years (interquartile range 8.72–10.53), 4,587 individuals (1.48%) had Parkinson’s disease. Based on a multivariable time-dependent Cox proportional hazards model, a per-unit increase in triglyceride-glucose index scores was associated with a significantly increased risk of Parkinson’s disease (Hazard ratio (HR): 1.062, 95% confidence interval (CI): 1.007–1.119). In a sensitivity analysis, the triglyceride-glucose index was associated with the incidence risk of Parkinson’s disease in a non–diabetes mellitus cohort (HR: 1.093. 95% CI: 1.025–1.165), but not in a diabetes mellitus cohort (HR: 0.990, 95% CI: 0.902–1.087). In a restricted cubic spline analysis, the association between the triglyceride-glucose index and the incidence risk of Parkinson’s disease showed a non-linear increasing (J-shape) trend.
Conclusion
Our study demonstrated that higher triglyceride-glucose index scores were associated with the incidence risk of Parkinson’s disease in the general population, particularly in a non-diabetes mellitus cohort.

A Chinese Child With Dystonia Linked to the EIF2AK2 Missense Variant: A Case Report: Lifang Dai, Changhong Ren, Shenghan Guan, Xiaojuan Tian, Hui Xiong, Changhong Ding; Received October 20, 2024 Accepted February 19, 2025 Published online February 20, 2025; DOI: https://doi.org/10.14802/jmd.24215 [Epub ahead of print]

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CSF1R-related adult-onset leukoencephalopathy with axonal spheroids: A case series of four Asian Indian patients: Divyani Garg, Abhishek Vaingankar, Anu Gupta, Roopa Rajan, Ajay Garg, Ayush Agarwal, Farsana Mustafa, Divya M Radhakrishnan, Awadh Kishor Pandit, Venugopalan Y Vishnu, Mamta Bhushan Singh, Rohit Bhatia, Achal Kumar Srivastava; Received January 4, 2025 Accepted February 17, 2025 Published online February 17, 2025; DOI: https://doi.org/10.14802/jmd.25004 [Accepted]

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Abstract PDF: Background
Colony stimulating factor 1 receptor-related leukoencephalopathy (CSF1R-L) is a rare, adult onset leukoencephalopathy. Descriptions from the Indian subcontinent remain limited.
Objective
To report four patients with genetically confirmed CSF1R-L from four Asian Indian families, describing clinical, molecular and radiological features.
Methods
All patients underwent clinical examination, MRI brain, and whole exome sequencing to identify causative variants in CSF1R gene. We also reviewed published Indian cases with CSF1R-L.
Results
Age at enrolment ranged from 34-40 years. Duration of symptoms ranged from 11 months to 2 years. The chief clinical phenotype in three patients was a rapidly evolving cognitive-behavioural syndrome combined with atypical parkinsonism, and asymmetrical spastic tetraparesis in one patient. We identified four different variants (three missense, one inframe deletion). Radiological findings demonstrated white matter involvement, and diffusion restriction involving subcortical white matter and pyramidal tracts.
Conclusions
We expand the literature from India with four new cases of CSF1R-L.

Drug Repositioning and Repurposing for Disease-Modifying Effects in Parkinson’s Disease: Seong Ho Jeong, Phil Hyu Lee; Received January 15, 2025 Accepted February 7, 2025 Published online February 7, 2025; DOI: https://doi.org/10.14802/jmd.25008 [Epub ahead of print]

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Abstract PDF: Parkinson’s disease (PD) is the second most prevalent neurodegenerative disorder and is characterized by progressive dopaminergic and nondopaminergic neuronal loss and the presence of Lewy bodies, which are primarily composed of aggregated α-synuclein. Despite advancements in symptomatic therapies, such as dopamine replacement and deep brain stimulation, no disease-modifying therapies (DMTs) have been identified to slow or arrest neurodegeneration in patients with PD. Challenges in DMT development include disease heterogeneity, the absence of reliable biomarkers, and the multifaceted pathophysiology of PD, encompassing neuroinflammation, mitochondrial dysfunction, lysosomal impairment, and oxidative stress. Drug repositioning and repurposing strategies using existing drugs for new therapeutic applications offer promising approaches to accelerate the development of DMTs for PD. These strategies minimize time, cost, and risk by using compounds with established safety profiles. Prominent candidates include glucagon-like peptide-1 receptor agonists, dipeptidyl peptidase-4 inhibitors, ambroxol, calcium channel blockers, statins, iron-chelating agents, c-Abl inhibitors, and memantine. Although preclinical and early clinical studies have demonstrated encouraging results, numerous phase III trials have yielded unfavorable outcomes, elucidating the complexity of PD pathophysiology and the need for innovative trial designs. This review evaluates the potential of prioritized repurposed drugs for PD, focusing on their mechanisms, preclinical evidence, and clinical trial outcomes, and highlights the ongoing challenges and opportunities in this field.

Spastic Paraplegia 82 in Two Asian Indian Siblings With PCYT2 Mutations: Anil Dash, Farsana Mustafa, Divyani Garg, Sreeja Samineni, Ayush Agarwal, Ajay Garg, Achal Kumar Srivastava; Received December 16, 2024 Accepted January 24, 2025 Published online January 31, 2025; DOI: https://doi.org/10.14802/jmd.24259 [Epub ahead of print]

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Diagnosing Cerebrotendinous Xanthomatosis in a Middle-Aged Woman With Cervical Dystonia: Wei-Sheng Wang, Yu-Ping Chiu, Meng-Han Tsai, Shey-Lin Wu, Yen-Chung Chen; Received September 28, 2024 Accepted January 17, 2025 Published online January 20, 2025; DOI: https://doi.org/10.14802/jmd.24202 [Epub ahead of print]

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