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Volume 9(3); September 2016
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Review Articles
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Episodic Ataxias: Clinical and Genetic Features
Kwang-Dong Choi, Jae-Hwan Choi
J Mov Disord. 2016;9(3):129-135.   Published online September 21, 2016
DOI: https://doi.org/10.14802/jmd.16028
  • 25,541 View
  • 937 Download
  • 65 Web of Science
  • 64 Crossref
AbstractAbstract PDF
Episodic ataxia (EA) is a clinically heterogeneous group of disorders that are characterized by recurrent spells of truncal ataxia and incoordination lasting minutes to hours. Most have an autosomal dominant inheritance pattern. To date, 8 subtypes have been defined according to clinical and genetic characteristics, and five genes are known to be linked to EAs. Both EA1 and EA2, which are caused by mutations in KCNA1 and CACNA1A, account for the majority of EA, but many patients with no identified mutations still exhibit EA-like clinical features. Furthermore, genetically confirmed EAs have mostly been identified in Caucasian families. In this article, we review the current knowledge on the clinical and genetic characteristics of EAs. Additionally, we summarize the phenotypic features of the genetically confirmed EA2 families in Korea.

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Applications of CRISPR/Cas9 for Gene Editing in Hereditary Movement Disorders
Wooseok Im, Jangsup Moon, Manho Kim
J Mov Disord. 2016;9(3):136-143.   Published online September 21, 2016
DOI: https://doi.org/10.14802/jmd.16029
  • 21,563 View
  • 639 Download
  • 14 Web of Science
  • 10 Crossref
AbstractAbstract PDF
Gene therapy is a potential therapeutic strategy for treating hereditary movement disorders, including hereditary ataxia, dystonia, Huntington’s disease, and Parkinson’s disease. Genome editing is a type of genetic engineering in which DNA is inserted, deleted or replaced in the genome using modified nucleases. Recently, clustered regularly interspaced short palindromic repeat/CRISPR associated protein 9 (CRISPR/Cas9) has been used as an essential tool in biotechnology. Cas9 is an RNA-guided DNA endonuclease enzyme that was originally associated with the adaptive immune system of Streptococcus pyogenes and is now being utilized as a genome editing tool to induce double strand breaks in DNA. CRISPR/Cas9 has advantages in terms of clinical applicability over other genome editing technologies such as zinc-finger nucleases and transcription activator-like effector nucleases because of easy in vivo delivery. Here, we review and discuss the applicability of CRISPR/Cas9 to preclinical studies or gene therapy in hereditary movement disorders.

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Original Articles
Article image
Cognition and Visit-to-Visit Variability of Blood Pressure and Heart Rate in De Novo Patients with Parkinson’s Disease
Kyum-Yil Kwon, Seon Jong Pyo, Hye Mi Lee, Woo-Keun Seo, Seong-Beom Koh
J Mov Disord. 2016;9(3):144-151.   Published online September 21, 2016
DOI: https://doi.org/10.14802/jmd.16012
  • 13,951 View
  • 126 Download
  • 8 Web of Science
  • 8 Crossref
AbstractAbstract PDFSupplementary Material
Objective
We sought to identify whether the characteristics of long-term visit-to-visit blood pressure (BP) and heart rate (HR) are related to baseline cognitive profiles in, Parkinson’s disease (PD).
Methods
We selected drug-naïve PD patients who visited our hospital at least 10 times with a baseline assessment of the Seoul neuropsychological battery. BP and HR were measured at each visit, and the variability of the systolic BP/diastolic BP (DBP) and HR was derived from the parameters of serial 10 office visits. Mild cognitive impairment (MCI) in PD patients was determined according to the proposed criteria with a cut-off value of z-score ≤ -2.
Results
Forty-seven patients with PD (mean follow-up duration = 22.3 months) were enrolled in the study. Compared with non-MCI PD patients, MCI PD patients revealed a significant increase in HR and/or variability in DBP.
Conclusion
This exploratory study showed that baseline cognition in drug-naïve PD patients might be related to the visit-to-visit variability of DBP and/or HR.

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The MMSE and MoCA for Screening Cognitive Impairment in Less Educated Patients with Parkinson’s Disease
Ji In Kim, Mun Kyung Sunwoo, Young H. Sohn, Phil Hyu Lee, Jin Y. Hong
J Mov Disord. 2016;9(3):152-159.   Published online September 21, 2016
DOI: https://doi.org/10.14802/jmd.16020
  • 21,916 View
  • 426 Download
  • 42 Web of Science
  • 40 Crossref
AbstractAbstract PDF
Objective
To explore whether the Mini-Mental State Examination (MMSE) and Montreal Cognitive Assessment (MoCA) can be used to screen for dementia or mild cognitive impairment (MCI) in less educated patients with Parkinson’s disease (PD).
Methods
We reviewed the medical records of PD patients who had taken the Korean MMSE (K-MMSE), Korean MoCA (K-MoCA), and comprehensive neuropsychological tests. Predictive values of the K-MMSE and K-MoCA for dementia or MCI were analyzed in groups divided by educational level.
Results
The discriminative powers of the K-MMSE and K-MoCA were excellent [area under the curve (AUC) 0.86–0.97] for detecting dementia but not for detecting MCI (AUC 0.64–0.85). The optimal screening cutoff values of both tests increased with educational level for dementia (K-MMSE < 15 for illiterate, < 20 for 0.5–3 years of education, < 23 for 4–6 years, < 25 for 7–9 years, and < 26 for 10 years or more; K-MoCA < 7 for illiterate, < 13 for 0.5–3 years, < 16 for 4–6 years, < 19 for 7–9 years, < 20 for 10 years or more) and MCI (K-MMSE < 19 for illiterate, < 26 for 0.5–3 years, < 27 for 4–6 years, < 28 for 7–9 years, and < 29 for 10 years or more; K-MoCA < 13 for illiterate, < 21 for 0.5–3 years, < 23 for 4–6 years, < 25 for 7–9 years, < 26 for 10 years or more).
Conclusion
Both MMSE and MoCA can be used to screen for dementia in patients with PD, regardless of educational level; however, neither test is sufficient to discriminate MCI from normal cognition without additional information.

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Article image
Falls and Their Associated Risks in Parkinson’s Disease Patients in Nigeria
Temitope Hannah Farombi, Mayowa O Owolabi, Adesola Ogunniyi
J Mov Disord. 2016;9(3):160-165.   Published online September 21, 2016
DOI: https://doi.org/10.14802/jmd.16011
  • 19,484 View
  • 241 Download
  • 17 Web of Science
  • 16 Crossref
AbstractAbstract PDF
Objective
Falls are a devastating consequence of Parkinson’s disease (PD) and are due to motor imbalance. However, the frequency of falls and their risk factors among Nigerians with PD is not known despite the significant increase in PD cases in the country. To assess fall risk factors and frequency in Nigerian PD patients.
Methods
Using an analytical design to compare falling versus non-falling patients, 81 PD patients were assessed for clinical factors, frequency of falls, and candidate risk factors for falls according to the Tinetti Balance and Gait, Unified Parkinson’s Disease Rating Scale subsection 1, and Timed Up and Go Tests. Descriptive, bivariate, and multivariate analyses were performed at the 95% confidence level.
Results
The mean age of participants was 65.6 ± 9.7 years. Falls were about three times (p < 0.001) more common in PD patients. Of the falling patients, 67.7% sustained injuries, 67.7% had recurrent falls and 44.9% admitted to having a fear of falling. The independent statistical predictors of fall were fear of falling [odds ratio (OR): 3.86], disease severity (OR: 1.09) and disease duration (OR: 1.01).
Conclusion
The frequency of falls in PD patients was significantly higher when compared with the healthy adult population, and the modifiable predictor was fear of falling with a potential to significantly reduce falls when strategically addressed.

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Article image
Survival of Korean Huntington’s Disease Patients
Han-Joon Kim, Chae-Won Shin, Beomseok Jeon, Hyeyoung Park
J Mov Disord. 2016;9(3):166-170.   Published online September 21, 2016
DOI: https://doi.org/10.14802/jmd.16022
  • 16,283 View
  • 154 Download
  • 13 Web of Science
  • 12 Crossref
AbstractAbstract PDF
Objective
The survival of Huntington’s disease (HD) patients is reported to be 15–20 years. However, most studies on the survival of HD have been conducted in patients without genetic confirmation with the possible inclusion of non-HD patients, and all studies have been conducted in Western countries. The survival of patients with HD in East Asia, where its prevalence is 10–50-fold lower compared with Western populations, has not yet been reported.
Methods
Forty-seven genetically confirmed Korean HD patients from independent families were included in this retrospective medical record review study.
Results
The mean age at onset among the 47 patients was 46.1 ± 14.0 years. At the time of data collection, 25 patients had died, and these patients had a mean age at death of 57.8 ± 13.7 years. The Kaplan-Meier estimate of the median survival from onset in the 47 patients was 14.5 years (95% confidence interval: 12.3–16.6). None of the following factors were associated with the survival time in the univariate Cox regression analysis: gender, age at onset, normal CAG repeat size, mutant CAG repeat size, and the absence or presence of non-motor symptoms at onset.
Conclusion
This is the first Asian study on survival in HD patients. Survival in Korean HD patients may be shorter than that reported for Western populations, or at least is in the lower range of expected survival. A larger longitudinal observation study is needed to confirm the results found in this study.

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