Journal of Movement Disorders

Volume 13(2); May 2020

Review Articles

Long-Term Outcomes of Genetic Parkinson’s Disease: Jan O. Aasly; J Mov Disord. 2020;13(2):81-96. Published online May 29, 2020; DOI: https://doi.org/10.14802/jmd.19080

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Parkinson’s disease (PD) is a progressive neurodegenerative disorder that affects 1–2% of people by the age of 70 years. Age is the most important risk factor, and most cases are sporadic without any known environmental or genetic causes. Since the late 1990s, mutations in the genes SNCA, PRKN, LRRK2, PINK1, DJ-1, VPS35, and GBA have been shown to be important risk factors for PD. In addition, common variants with small effect sizes are now recognized to modulate the risk for PD. Most studies in genetic PD have focused on finding new genes, but few have studied the long-term outcome of patients with the specific genetic PD forms. Patients with known genetic PD have now been followed for more than 20 years, and we see that they may have distinct and different prognoses. New therapeutic possibilities are emerging based on the genetic cause underlying the disease. Future medication may be based on the pathophysiology individualized to the patient’s genetic background. The challenge is to find the biological consequences of different genetic variants. In this review, the clinical patterns and long-term prognoses of the most common genetic PD variants are presented.

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Nutrition and Lifestyle Interventions for Managing Parkinson’s Disease: A Narrative Review: Tracy Lister; J Mov Disord. 2020;13(2):97-104. Published online May 29, 2020; DOI: https://doi.org/10.14802/jmd.20006

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11 Web of Science
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Abstract PDF

The etiology of Parkinson’s disease (PD) is not fully understood, but environmental toxin overexposure, increased intestinal permeability, and dysbiosis related to nutrition and lifestyle habits are thought to be contributors. Considering these nutrition and lifestyle implications, there is a lack of practice-based programs utilizing interventions for managing symptoms or slowing the progression of the disease. The purpose of this narrative review was to identify relevant research related to nutrition and lifestyle interventions for PD, evaluate the research utilizing the evidence analysis process of the Academy of Nutrition and Dietetics to assess the quality of each research article, and group the research into categories. A grading of recommendations assessment, development and evaluation (GRADE) of either good, fair, limited, or not assignable was allocated to each category of research, including diet patterns, vitamin D, B-complex, omega-3 fatty acids, coenzyme Q10, probiotics, physical activity, stress, and sleep. An intervention based on the research presented in the review may be utilized for coaching people with PD on symptom management.

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COVID-19: An Early Review of Its Global Impact and Considerations for Parkinson’s Disease Patient Care: Roongroj Bhidayasiri, Sasivimol Virameteekul, Jong-Min Kim, Pramod Kr. Pal, Sun-Ju Chung; J Mov Disord. 2020;13(2):105-114. Published online April 30, 2020; DOI: https://doi.org/10.14802/jmd.20042

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763 Download
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Abstract PDF

While many infectious disorders are unknown to most neurologists, COVID-19 is very different. It has impacted neurologists and other health care workers, not only in our professional lives but also through the fear and panic within our own families, colleagues, patients and their families, and even in the wider public. COVID-19 affects all sorts of individuals, but the elderly with underlying chronic conditions are particularly at risk of severe disease, or even death. Parkinson’s disease (PD) shares a common profile as an age-dependent degenerative disorder, frequently associated with comorbidities, particularly cardiovascular diseases, so PD patients will almost certainly fall into the high-risk group. Therefore, the aim of this review is to explore the risk of COVID-19 in PD based on the susceptibility to severe disease, its impact on PD disease severity, potential long-term sequelae, and difficulties of PD management during this outbreak, where neurologists face various challenges on how we can maintain effective care for PD patients without exposing them, or ourselves, to the risk of infection. It is less than six months since the identification of the original COVID-19 case on New Year’s Eve 2019, so it is still too early to fully understand the natural history of COVID-19 and the evidence on COVID-19-related PD is scant. Though the possibilities presented are speculative, they are theory-based, and supported by prior evidence from other neurotrophic viruses closely related to SARS-CoV-2. Neurologists should be on high alert and vigilant for potential acute and chronic complications when encountering PD patients who are suspected of having COVID-19.

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Viewpoint

Future of Tanscranial Magnetic Stimulation in Movement Disorders: Introduction of Novel Methods: Yoshikazu Ugawa, Yasushi Shimo, Yasuo Terao; J Mov Disord. 2020;13(2):115-117. Published online April 6, 2020; DOI: https://doi.org/10.14802/jmd.19083

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Original Articles

The Non-Motor Symptom Profile of Progressive Supranuclear Palsy: Sudhakar Pushpa Chaithra, Shweta Prasad, Vikram Venkappayya Holla, Albert Stezin, Nitish Kamble, Ravi Yadav, Pramod Kumar Pal; J Mov Disord. 2020;13(2):118-126. Published online April 6, 2020; DOI: https://doi.org/10.14802/jmd.19066

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Abstract PDF

Objective
Non-motor symptoms (NMSs) significantly contribute to increased morbidity and poor quality of life in patients with parkinsonian disorders. This study aims to explore the profile of NMSs in patients with progressive supranuclear palsy (PSP) using the validated Non-Motor Symptom Scale (NMSS).
Methods
Seventy-six patients with PSP were evaluated in this study. Motor symptoms and NMSs were evaluated using the PSP Rating Scale (PSPRS), Unified Parkinson’s Disease Rating Scale-III, Montreal Cognitive Assessment, Hamilton Depression (HAMD) and Anxiety Rating Scales, Parkinson’s Disease Sleep Scale (PDSS) and NMSS. NMS severity and prevalence were also compared between patients with PSP-Richardson syndrome (PSP-RS) and those with PSP-parkinsonism.
Results
All subjects in this cohort reported at least 2 NMSs. The most prevalent NMSs in patients with PSP were in the domains of sleep/fatigue, mood/cognition, and sexual function. The least prevalent NMSs were in the domains of cardiovascular including falls, and perceptual problems/hallucinations. Significant correlations were observed between the NMSS scores and HAM-D, PDSS, PSPRS scores and PSPRS sub-scores. The severity of NMSs was unrelated to the duration of illness. Patients with PSP-RS reported a higher severity of drooling, altered smell/taste, depression and altered interest in sex and a higher prevalence of sexual dysfunction.
Conclusion
NMSs are commonly observed in patients with PSP, and the domains of sleep, mood and sexual function are most commonly affected. These symptoms contribute significantly to disease morbidity, and clinicians should pay adequate attention to identifying and addressing these symptoms.

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Long-term Effects of Bilateral Subthalamic Deep Brain Stimulation on Postural Instability and Gait Difficulty in Patients with Parkinson’s Disease: Hae-Won Shin, Mi Sun Kim, Sung Reul Kim, Sang Ryong Jeon, Sun Ju Chung; J Mov Disord. 2020;13(2):127-132. Published online May 29, 2020; DOI: https://doi.org/10.14802/jmd.19081

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Abstract PDF

Objective
The long-term effects of bilateral subthalamic nucleus deep brain stimulation (STN-DBS) on postural instability and gait difficulty (PIGD) in patients with Parkinson’s disease (PD) remain unclear. In this study, we aimed to evaluate the longterm effects of STN-DBS surgery on PIGD symptoms in patients with advanced-stage PD. Methods This study included 49 consecutively included patients with PD who underwent bilateral STN-DBS. The Unified Parkinson’s Disease Rating Scale (UPDRS) scores and subscores for PIGD were assessed at baseline and at 1, 3, and 5 years postoperatively. The PIGD subscore was divided into PIGD-motor and PIGD-activities of daily living (ADL) scores according to parts III and II of the UPDRS, respectively. Results The PIGD-motor and PIGD-ADL scores at the “medication-off” state improved at 3 and 5 years, respectively. Overall, the UPDRS III and II scores at “medication-off” improved at 5 years. The UPDRS IV score also significantly improved and the levodopa equivalent daily dosage decreased at all follow-ups. Finally, the PIGD-motor score at baseline was able to predict long-term improvement in the PIGD-motor score at the 5-year follow-up. Conclusion The STN-DBS has both short- and long-term effects on PIGD, as well as overall motor function, in patients with advanced PD. The degree of PIGD at the preoperative evaluation can be used to predict long-term outcomes after STN-DBS surgery.

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Association between Olfactory Deficit and Motor and Cognitive Function in Parkinson’s Disease: Han Soo Yoo, Seok Jong Chung, Yang Hyun Lee, Byoung Seok Ye, Young H. Sohn, Phil Hyu Lee; J Mov Disord. 2020;13(2):133-141. Published online April 6, 2020; DOI: https://doi.org/10.14802/jmd.19082

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Objective
To investigate whether baseline olfactory dysfunction in Parkinson’s disease (PD) patients is associated with baseline and longitudinal motor and cognitive function.
Methods
We recruited 228 drug-naïve PD patients who were followed for a mean of 6 years. Patients underwent the Cross-Cultural Smell Identification Test (CCSIT), a neuropsychological test, and N-(3-[18F]fluoropropyl)-2β-carbomethoxy-3β-(4-iodophenyl) nortropane positron emission tomography within 6 months of the baseline evaluation. Olfactory dysfunction was categorized as normosmia (CCSIT score ≥ 9), hyposmia (CCSIT score 5–8), and anosmia (CCSIT score ≤ 4). During the follow-up period, we investigated changes in the levodopa-equivalent dose (LED) and the occurrence of wearing-off, levodopa-induced dyskinesia, and dementia.
Results
Among the PD patients, 80.7% were hyposmic at the time of diagnosis, and 26.1% were anosmic. Baseline olfactory dysfunction was not associated with either initial parkinsonian motor symptoms or with the longitudinal LED increment and motor complications. Meanwhile, the anosmic group had lower baseline scores on the Korea version of the Boston Naming Test and Stroop color reading test than the normosmic and hyposmic groups. The anosmic group exhibited a higher rate of conversion to dementia than the normosmic [adjusted hazard ratio (HR) 3.99, 95% confidence interval (CI) 1.08–14.72] and hyposmic (adjusted HR 2.48, 95% CI 1.15–5.32) PD groups, regardless of baseline motor deficits and cognitive status.
Conclusion
Baseline olfactory dysfunction was not associated with motor deficits and complications, but it was associated with cognitive dysfunction and prognosis, suggesting that severe olfactory impairment may reflect early cortical involvement, probably in the frontotemporal region, and rapid spreading of Lewy body pathology.

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Brief communications

Risk Factors for Falls in Patients with de novo Parkinson’s Disease: A Focus on Motor and Non-Motor Symptoms: Kyum-Yil Kwon, Mina Lee, Hyunjin Ju, Kayeong Im; J Mov Disord. 2020;13(2):142-145. Published online May 29, 2020; DOI: https://doi.org/10.14802/jmd.20009

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Abstract PDF

Objective
We aimed to identify risk factors for falls in patients with de novo Parkinson’s disease (PD). Methods Forty-six patients with de novo PD were retrospectively included in the study. We assessed details on the patients’ motor symptoms as well as non-motor symptoms using several representative scales for global cognition, depression, fatigue, and dysautonomia. Fallers and non-fallers were identified according to their history of falls during the preceding year. Results Twenty-two patients (45.8%) with de novo PD had a history of falls. Compared with the non-faller group, the faller group exhibited higher scores for postural instability/gait difficulty (PIGD), anxiety, fatigue, total dysautonomia, gastrointestinal dysfunction, and thermoregulatory dysfunction. Moreover, logistic regression analysis showed that falling was positively correlated with anxiety and gastrointestinal symptoms but negatively associated with the tremor scores. Conclusion Our findings suggest that falling in patients with de novo PD is significantly associated with PIGD/non-tremor symptoms, anxiety, and gastrointestinal dysfunction.

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Seon-Min Lee, Mina Lee, Eun Ji Lee, Rae On Kim, Yongduk Kim, Kyum-Yil Kwon
Journal of Movement Disorders.2023; 16(1): 59. CrossRef
Fluctuations in Upper and Lower Body Movement during Walking in Normal Pressure Hydrocephalus and Parkinson’s Disease Assessed by Motion Capture with a Smartphone Application, TDPT-GT
Chifumi Iseki, Shou Suzuki, Tadanori Fukami, Shigeki Yamada, Tatsuya Hayasaka, Toshiyuki Kondo, Masayuki Hoshi, Shigeo Ueda, Yoshiyuki Kobayashi, Masatsune Ishikawa, Shigenori Kanno, Kyoko Suzuki, Yukihiko Aoyagi, Yasuyuki Ohta
Sensors.2023; 23(22): 9263. CrossRef
Associations of cognitive dysfunction with motor and non-motor symptoms in patients with de novo Parkinson’s disease
Kyum-Yil Kwon, Suyeon Park, Rae On Kim, Eun Ji Lee, Mina Lee
Scientific Reports.2022;[Epub] CrossRef
Initial Vestibular Function May Be Associated with Future Postural Instability in Parkinson’s Disease
Jeong Ho Park, Min Seung Kim, Suk Yun Kang
Journal of Clinical Medicine.2022; 11(19): 5608. CrossRef
Association of fall risk factors and non-motor symptoms in patients with early Parkinson’s disease
Kyum-Yil Kwon, Suyeon Park, Eun Ji Lee, Mina Lee, Hyunjin Ju
Scientific Reports.2021;[Epub] CrossRef
Understanding the Influence of Pain and Fatigue On Physical performance, Fear of Falling and Falls in People With Parkinson’s Disease: A Pilot Study
Hanan Khalil, Nesreen Alissa, Alham Al-Sharman, Islam E’leimat, Majdi Al Qawasmeh, Khalid El-Salem
Neurodegenerative Disease Management.2021; 11(2): 113. CrossRef
Assessment of Risk Factors for Falls among Patients with Parkinson’s Disease
Jacek Wilczyński, Magdalena Ścipniak, Kacper Ścipniak, Kamil Margiel, Igor Wilczyński, Rafał Zieliński, Piotr Sobolewski, Stefano Brunelli
BioMed Research International.2021; 2021: 1. CrossRef

Sedentary Time is Associated with Worse Attention in Parkinson’s Disease: A Pilot Study: Sara B. W. Troutman, Kirk I. Erickson, George Grove, Andrea M. Weinstein; J Mov Disord. 2020;13(2):146-149. Published online May 29, 2020; DOI: https://doi.org/10.14802/jmd.20015

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Objective
Cognitive symptoms of Parkinson’s disease (PD) may be alleviated by moderate-to-vigorous physical activity (MVPA), but no published research has characterized the relationship between objectively measured sedentary behavior and cognitive symptoms of PD. Therefore, the objective of this study was to assess the cross-sectional relationship between sedentary time and cognitive performance in a small pilot sample of individuals with mild-to-moderate PD. Methods Objective measures of sedentary time were obtained using an armband accelerometer. Cognition was assessed with the Parkinson’s Disease Cognitive Rating Scale and a computerized task-switching paradigm. Results The percentage of awake time spent in sedentary activities was negatively correlated with attention (β = -14.20, t(12) = -2.47, p = 0.03) but not other cognitive domains (p > 0.05) after controlling for MVPA and medication dosage. Conclusion Sedentary activity may have unique associations with cognition, particularly attention, over and above MVPA in individuals with PD.

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A systematic review of the associations between sedentary behavior, physical inactivity, and non-motor symptoms of Parkinson’s disease
Aiza Khan, Joy Ezeugwa, Victor E. Ezeugwu, Michael Francis Salvatore
PLOS ONE.2024; 19(3): e0293382. CrossRef
A blood-based marker of mitochondrial DNA damage in Parkinson’s disease
Rui Qi, Esther Sammler, Claudia P. Gonzalez-Hunt, Ivana Barraza, Nicholas Pena, Jeremy P. Rouanet, Yahaira Naaldijk, Steven Goodson, Marie Fuzzati, Fabio Blandini, Kirk I. Erickson, Andrea M. Weinstein, Michael W. Lutz, John B. Kwok, Glenda M. Halliday, N
Science Translational Medicine.2023;[Epub] CrossRef

Case Reports

Dopa-Responsive Dystonia: A Male Patient Inherited a Novel GCH1 Deletion from an Asymptomatic Mother: Wendi Wang, Baozhong Xin, Heng Wang; J Mov Disord. 2020;13(2):150-153. Published online March 18, 2020; DOI: https://doi.org/10.14802/jmd.19069

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Dopa-responsive dystonia (DRD) is a complex genetic disorder with either autosomal dominant or autosomal recessive inheritance, with autosomal dominant being more frequent. Autosomal dominant DRD is known to be caused by mutations in the GCH1 gene, with incomplete penetrance frequently reported, particularly in males. Here, we report a male patient with DRD caused by exon 1 deletion in the GCH1 gene inherited from the asymptomatic mother. The patient had an atypical presentation, notably with no dystonia, and underwent extensive workup for a myriad of neuromuscular disorders before a low-dose L-dopa trial and confirmatory genetic testing were performed. Our experience with this family highlights an atypical presentation of DRD and prompts us to consider the genetic complexity of DRD.

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Detection of Single-Nucleotide and Copy Number Defects Underlying Hyperphenylalaninemia by Next-Generation Sequencing
Elisabetta Anna Tendi, Giovanna Morello, Maria Guarnaccia, Valentina La Cognata, Salvatore Petralia, Maria Anna Messina, Concetta Meli, Agata Fiumara, Martino Ruggieri, Sebastiano Cavallaro
Biomedicines.2023; 11(7): 1899. CrossRef
Study on Mechanism of Cumulative Directional Blasting of Brittle Karst Limestone in the Guizhou Province
Jie Hu, Yiping Zhang, Chengcheng Fang, Yusong Miao, Xin Zhao, Dengguo Liu, José António Fonseca de Oliveira Correia
Advances in Materials Science and Engineering.2023; 2023: 1. CrossRef

Successful Pallidal Stimulation in a Patient with KMT2B-Related Dystonia: Jun Kyu Mun, Ah Reum Kim, Jong Hyeon Ahn, Minkyeong Kim, Jin Whan Cho, Jung-Il Lee, Kyung Rae Cho, Jinyoung Youn; J Mov Disord. 2020;13(2):154-158. Published online April 6, 2020; DOI: https://doi.org/10.14802/jmd.19087

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Although the KMT2B gene was identified as a causative gene for early-onset generalized dystonia, the efficacy of deep brain stimulation (DBS) in KMT2B-related dystonia has not been clearly elucidated. Here, we describe a 28-year-old woman who developed generalized dystonia with developmental delay, microcephaly, short stature, and cognitive decline. She was diagnosed with KMT2B- related dystonia using whole-exome sequencing with a heterozygous frameshift insertion of c.515dupC (p.T172fs) in the KMT2B gene. Oral medications and botulinum toxin injection were not effective. The dystonia markedly improved with bilateral pallidal DBS (the Burke-Fahn-Marsden Dystonia Rating Scale score was reduced from 30 to 5 on the dystonia movement scale and from 11 to 1 on the disability scale), and she could walk independently. From this case, we suggest that bilateral globus pallidus internus DBS can be an effective treatment option for patients with KMT2B-related generalized dystonia.

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The role of genetics in the treatment of dystonia with deep brain stimulation: Systematic review and Meta-analysis
Harini Sarva, Federico Rodriguez-Porcel, Francisco Rivera, Claudio Daniel Gonzalez, Samantha Barkan, Susmit Tripathi, Emilia Gatto, Pedro Garcia Ruiz
Journal of the Neurological Sciences.2024; 459: 122970. CrossRef
GPi DBS treatment outcome in children with monogenic dystonia: a case series and review of the literature
Darko Chudy, Marina Raguž, Vladimira Vuletić, Valentino Rački, Eliša Papić, Nataša Nenadić Baranašić, Nina Barišić
Frontiers in Neurology.2023;[Epub] CrossRef
KMT2B-Related Dystonia in Indian Patients With Literature Review and Emphasis on Asian Cohort
Debjyoti Dhar, Vikram V Holla, Riyanka Kumari, Neeharika Sriram, Jitender Saini, Ravi Yadav, Akhilesh Pandey, Nitish Kamble, Babylakshmi Muthusamy, Pramod Kumar Pal
Journal of Movement Disorders.2023; 16(3): 285. CrossRef
Transcriptional co-activators: emerging roles in signaling pathways and potential therapeutic targets for diseases
Priyanka Dey Talukdar, Urmi Chatterji
Signal Transduction and Targeted Therapy.2023;[Epub] CrossRef
GPi‐DBS for KMT2B‐Associated Dystonia: Systematic Review and Meta‐Analysis
Roopa Rajan, Kanwaljeet Garg, Arti Saini, Divya M. Radhakrishnan, Miryam Carecchio, Binukumar BK, Manmohan Singh, Achal K. Srivastava
Movement Disorders Clinical Practice.2022; 9(1): 31. CrossRef
Dystonic Tremor in Adult-onset DYT-KMT2B
Rui Shimazaki, Jun Ikezawa, Ryoichi Okiyama, Kenko Azuma, Hiroyuki Akagawa, Kazushi Takahashi
Internal Medicine.2022; 61(15): 2357. CrossRef
Dystonia type 28 with early onset (DYT-KMT2B): a clinical case
V. A. Bulanova, M. A. Bykanova, N. А. Kuleva
Russian Journal of Child Neurology.2022; 17(3): 79. CrossRef
Identification of a novel de novo KMT2B variant in a Greek dystonia patient via exome sequencing genotype–phenotype correlations of all published cases
Chrysoula Marogianni, Despoina Georgouli, Katerina Dadouli, Panagiotis Ntellas, Dimitrios Rikos, Georgios M. Hadjigeorgiou, Cleanthi Spanaki, Georgia Xiromerisiou
Molecular Biology Reports.2021; 48(1): 371. CrossRef
Arching deep brain stimulation in dystonia types
Han-Joon Kim, Beomseok Jeon
Journal of Neural Transmission.2021; 128(4): 539. CrossRef
Deep Brain Stimulation for Pediatric Dystonia
Travis Larsh, Steve W. Wu, Sudhakar Vadivelu, Gerald A. Grant, Jennifer A. O'Malley
Seminars in Pediatric Neurology.2021; 38: 100896. CrossRef
Deep Brain Stimulation in KMT2B-Related Dystonia: Case Report and Review of the Literature With Special Emphasis on Dysarthria and Speech
Maria Abel, Robert Pfister, Iman Hussein, Fahd Alsalloum, Christina Onyinzo, Simon Kappl, Michael Zech, Walter Demmel, Martin Staudt, Manfred Kudernatsch, Steffen Berweck
Frontiers in Neurology.2021;[Epub] CrossRef
Radiofrequency ablation for DYT‐28 dystonia: short term follow‐up of three adult cases
Shiro Horisawa, Kenkou Azuma, Hiroyuki Akagawa, Taku Nonaka, Takakazu Kawamata, Takaomi Taira
Annals of Clinical and Translational Neurology.2020; 7(10): 2047. CrossRef
KMT2B-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation
Laura Cif, Diane Demailly, Jean-Pierre Lin, Katy E Barwick, Mario Sa, Lucia Abela, Sony Malhotra, Wui K Chong, Dora Steel, Alba Sanchis-Juan, Adeline Ngoh, Natalie Trump, Esther Meyer, Xavier Vasques, Julia Rankin, Meredith W Allain, Carolyn D Applegate,
Brain.2020; 143(11): 3242. CrossRef

Treatment of Acute Delirium in a Patient with Parkinson’s Disease by Transfer to the Intensive Care Unit and Administration of Dexmedetomidine: Morgan Lombardo, Amanda DiPiazza, Kelly Rippey, Naomi Lubarr, Elana Clar, Hooman Azmi; J Mov Disord. 2020;13(2):159-162. Published online May 29, 2020; DOI: https://doi.org/10.14802/jmd.20005

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The treatment of delirium or psychosis in patients with Parkinson’s disease (PD) can be complicated by the limited number of pharmacological agents that can be used in this population. Typical and atypical antipsychotics are contraindicated, as they can worsen motor symptoms. The treatment of acute delirium is even more complicated in the hospital setting, as many medications deemed safer in this population are only available in oral form. We present a case of acute delirium in a patient with PD, likely precipitated by a polypharmacy interaction of new medications, that was successfully managed by transferring the patient to the intensive care unit and administering dexmedetomidine for 72 hours.

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Jana Hroudová
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Kenneth R. Dalton, Charles J. Kidd, Nawaz Hack
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Fountain of youth—Targeting autophagy in aging
Lea Danics, Anna Anoir Abbas, Balázs Kis, Karolina Pircs
Frontiers in Aging Neuroscience.2023;[Epub] CrossRef
Effect of dexmedetomidine on postoperative delirium in patients undergoing brain tumour resections: study protocol of a randomised controlled trial
Dexiang Wang, Ruowen Li, Shu Li, Juan Wang, Min Zeng, Jia Dong, Xiaoyuan Liu, Nan Lin, Yuming Peng
BMJ Open.2021; 11(11): e051584. CrossRef

Letters to the editor

A Rare Case of Late Adult-Onset Niemann-Pick Disease Type C: Ryul Kim, Dallah Yoo, Sangmin Park, Jung Hwan Shin, Ji-Hyun Choi, Han-Joon Kim, Beomseok Jeon; J Mov Disord. 2020;13(2):163-165. Published online March 18, 2020; DOI: https://doi.org/10.14802/jmd.19077

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Lysosomal storage disorders identified in adult population from India: Experience of a tertiary genetic centre and review of literature
Jayesh Sheth, Aadhira Nair, Riddhi Bhavsar, Koumudi Godbole, Chaitanya Datar, Sheela Nampoothiri, Inusha Panigrahi, Heli Shah, Shruti Bajaj, Naresh Tayade, Naveen Bhardwaj, Harsh Sheth
JIMD Reports.2024; 65(2): 85. CrossRef
Genetic and phenotypic variability in adult patients with Niemann Pick type C from Serbia: single-center experience
Nikola Kresojević, Valerija Dobričić, Milica Ječmenica Lukić, Aleksandra Tomić, Igor Petrović, Nataša Dragašević, Ivana Perović, Ana Marjanović, Marija Branković, Milena Janković, Ivana Novaković, Marina Svetel, Vladimir S. Kostić
Journal of Neurology.2022; 269(6): 3167. CrossRef
Two Patients with Niemann Pick Disease Type C Diagnosed in the Seventh Decade of Life
Melanie Wu, Rita Ceponiene, Ece Bayram, Irene Litvan
Movement Disorders Clinical Practice.2020; 7(8): 961. CrossRef

The Utility of Serial Cerebrospinal Fluid Removal in Elderly Patients with Idiopathic Normal-Pressure Hydrocephalus?: Halil Onder, Guven Arslan; J Mov Disord. 2020;13(2):166-167. Published online May 29, 2020; DOI: https://doi.org/10.14802/jmd.20012

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X-linked hydrocephalus genes: Their proximity to telomeres and high A + T content compared to Parkinson's disease
Madeline Hart, Joshua Conrad, Emma Barrett, Kaitlyn Legg, Gabrielle Ivey, Peter H.U. Lee, Yun C. Yung, Joon W. Shim
Experimental Neurology.2023; 366: 114433. CrossRef

Focal Muscle Spasms after Thoracic Spine Surgery for Schwannoma: The Twitching Scar: Paulo Eduardo Mestrinelli Carrilho, Marcius Benigno Marques dos Santos; J Mov Disord. 2020;13(2):168-170. Published online May 29, 2020; DOI: https://doi.org/10.14802/jmd.20017

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