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Volume 13(2); May 2020
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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
  • 8,815 View
  • 346 Download
  • 6 Citations
AbstractAbstract PDF
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.
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
  • 8,486 View
  • 465 Download
  • 2 Citations
AbstractAbstract 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.
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
  • 11,338 View
  • 719 Download
  • 40 Citations
AbstractAbstract 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.
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
  • 3,242 View
  • 186 Download
  • 3 Citations
PDFSupplementary Material
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
  • 4,766 View
  • 217 Download
  • 6 Citations
AbstractAbstract 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.
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
  • 3,964 View
  • 182 Download
AbstractAbstract 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.
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
  • 5,712 View
  • 232 Download
  • 11 Citations
AbstractAbstract PDFSupplementary Material
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.
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
  • 3,271 View
  • 157 Download
  • 3 Citations
AbstractAbstract 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.
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
  • 5,325 View
  • 101 Download
AbstractAbstract PDFSupplementary Material
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.
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
  • 3,857 View
  • 121 Download
AbstractAbstract PDF
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.
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
  • 4,359 View
  • 144 Download
  • 8 Citations
AbstractAbstract PDFSupplementary Material
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.
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
  • 4,289 View
  • 113 Download
  • 1 Citations
AbstractAbstract PDF
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.
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
  • 4,273 View
  • 162 Download
  • 2 Citations
PDFSupplementary Material
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
  • 3,032 View
  • 55 Download
PDF
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
  • 3,462 View
  • 178 Download
PDFSupplementary Material

JMD : Journal of Movement Disorders