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Survival of Korean Huntington's Disease Patients.

Han Joon KIM ; Chae Won SHIN ; Beomseok JEON ; Hyeyoung PARK

Journal of Movement Disorders.2016;9(3):166-170. doi:10.14802/jmd.16022

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.
Age of Onset ; Asia ; Asian Continental Ancestry Group ; Data Collection ; Far East ; Humans ; Huntington Disease* ; Kaplan-Meier Estimate ; Korea ; Medical Records ; Prevalence ; Retrospective Studies

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Falls and Their Associated Risks in Parkinson’s Disease Patients in Nigeria.

Temitope Hannah FAROMBI ; Mayowa O OWOLABI ; Adesola OGUNNIYI

Journal of Movement Disorders.2016;9(3):160-165. doi:10.14802/jmd.16011

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.
Accidental Falls* ; Adult ; Africa South of the Sahara ; Gait ; Humans ; Multivariate Analysis ; Nigeria* ; Parkinson Disease ; Risk Factors

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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

Journal of Movement Disorders.2016;9(3):152-159. doi:10.14802/jmd.16020

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.
Cognition ; Cognition Disorders* ; Dementia ; Education ; Humans ; Mass Screening* ; Medical Records ; Methylenebis(chloroaniline)* ; Mild Cognitive Impairment ; Neuropsychological Tests ; Parkinson Disease*

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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

Journal of Movement Disorders.2016;9(3):144-151. doi:10.14802/jmd.16012

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.
Blood Pressure* ; Cognition* ; Follow-Up Studies ; Heart Rate* ; Heart* ; Humans ; Mild Cognitive Impairment ; Office Visits ; Parkinson Disease* ; Seoul

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Applications of CRISPR/Cas9 for Gene Editing in Hereditary Movement Disorders.

Wooseok IM ; Jangsup MOON ; Manho KIM

Journal of Movement Disorders.2016;9(3):136-143. doi:10.14802/jmd.16029

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.
Biotechnology ; Deoxyribonuclease I ; DNA ; Dystonia ; Genetic Engineering ; Genetic Therapy ; Genome ; Huntington Disease ; Immune System ; Movement Disorders* ; Parkinson Disease ; Spinocerebellar Degenerations ; Streptococcus pyogenes

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Episodic Ataxias: Clinical and Genetic Features.

Kwang Dong CHOI ; Jae Hwan CHOI

Journal of Movement Disorders.2016;9(3):129-135. doi:10.14802/jmd.16028

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.
Ataxia* ; Humans ; Inheritance Patterns ; Korea

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A Patient with Recurrent Dyskinesia and Hyperpyrexia Syndrome.

Min Seok BAEK ; Hyung Woo LEE ; Chul Hyoung LYOO

Journal of Movement Disorders.2017;10(3):154-157. doi:10.14802/jmd.17022

Dyskinesia hyperpyrexia syndrome is a rare medical emergency in Parkinson's disease. It is characterized by continuous dyskinesia associated with hyperthermia, rhabdomyolysis, and alteration of the mental state. We present the case of a 74-year-old woman who presented with recurrent dyskinesia hyperpyrexia syndrome. Although some provocation factors and clinical manifestations seem to be shared with parkinsonism hyperpyrexia syndrome, a clear distinction in management should be considered.
Aged ; Dyskinesias* ; Emergencies ; Female ; Fever ; Humans ; Parkinson Disease ; Parkinsonian Disorders ; Rhabdomyolysis

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Oculodentodigital Dysplasia Presenting as Spastic Paraparesis: The First Genetically Confirmed Korean Case and a Literature Review.

Kye Won PARK ; Ho Sung RYU ; Juyeon KIM ; Sun Ju CHUNG

Journal of Movement Disorders.2017;10(3):149-153. doi:10.14802/jmd.17050

Oculodentodigital dysplasia (ODDD) is a rare autosomal dominant inherited disease caused by mutations of the human gap junction alpha 1 gene, which encodes the protein Connexin-43. Patients with ODDD may present with neurological deficits with a typical pleiotropic combination of characteristic craniofacial, ophthalmological, phalangeal, and dental anomalies. In this report, we describe the first genetically confirmed Korean ODDD patient, who presented with spastic paraparesis. We will also review the neurological aspects of ODDD as reported in the literature.
Gap Junctions ; Humans ; Muscle Spasticity* ; Paraparesis, Spastic*

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‘Hummingbird’ Sign in a Patient with Guam Parkinsonism-Dementia Complex.

Tianrong YEO ; Louis CS TAN

Journal of Movement Disorders.2017;10(3):145-148. doi:10.14802/jmd.17025

We present a case of a 71-year-old male Chamorro patient from Guam who presented with progressive supranuclear palsy (PSP)-Richardson’s syndrome. Considering his strong family history of parkinsonism and a PSP phenotype, he was clinically diagnosed with Guam parkinsonism-dementia complex (PDC). Magnetic resonance imaging (MRI) of the brain revealed prominent midbrain atrophy with preserved pontine volume, forming the ‘hummingbird’ sign, which has not been described before in Guam PDC. Molecular analysis of the chromosome 9 open reading frame 72 gene (C9orf72) showed only 6 GGGGCC repeats. We discuss the clinico-pathological similarities and differences between PSP and Guam PDC, and highlight the topography of neuropathological changes seen in Guam PDC to explain the appearance of the ‘hummingbird’ sign on MRI.
Aged ; Atrophy ; Brain ; Chromosomes, Human, Pair 9 ; Guam* ; Humans ; Magnetic Resonance Imaging ; Male ; Mesencephalon ; Open Reading Frames ; Parkinsonian Disorders ; Phenotype ; Supranuclear Palsy, Progressive

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Quantitative Gait Analysis in Patients with Huntington's Disease.

Seon Jong PYO ; Hanjun KIM ; Il Soo KIM ; Young Min PARK ; Mi Jung KIM ; Hye Mi LEE ; Seong Beom KOH

Journal of Movement Disorders.2017;10(3):140-144. doi:10.14802/jmd.17041

OBJECTIVE: Gait disturbance is the main factor contributing to a negative impact on quality of life in patients with Huntington’s disease (HD). Understanding gait features in patients with HD is essential for planning a successful gait strategy. The aim of this study was to investigate temporospatial gait parameters in patients with HD compared with healthy controls. METHODS: We investigated 7 patients with HD. Diagnosis was confirmed by genetic analysis, and patients were evaluated with the Unified Huntington’s Disease Rating Scale (UHDRS). Gait features were assessed with a gait analyzer. We compared the results of patients with HD to those of 7 age- and sex-matched normal controls. RESULTS: Step length and stride length were decreased and base of support was increased in the HD group compared to the control group. In addition, coefficients of variability for step and stride length were increased in the HD group. The HD group showed slower walking velocity, an increased stance/swing phase in the gait cycle and a decreased proportion of single support time compared to the control group. Cadence did not differ significantly between groups. Among the UHDRS subscores, total motor score and total behavior score were positively correlated with step length, and total behavior score was positively correlated with walking velocity in patients with HD. CONCLUSION: Increased variability in step and stride length, slower walking velocity, increased stance phase, and decreased swing phase and single support time with preserved cadence suggest that HD gait patterns are slow, ataxic and ineffective. This study suggests that quantitative gait analysis is needed to assess gait problems in HD.
Diagnosis ; Gait* ; Humans ; Huntington Disease* ; Quality of Life ; Walking

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