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Volume 8(1); January 2015
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Review Article
Neurodegeneration with Brain Iron Accumulation: Diagnosis and Management
Penelope Hogarth
J Mov Disord. 2015;8(1):1-13.   Published online January 31, 2015
DOI: https://doi.org/10.14802/jmd.14034
  • 34,624 View
  • 838 Download
  • 104 Citations
AbstractAbstract PDF
Neurodegeneration with brain iron accumulation (NBIA) encompasses a group of inherited disorders that share the clinical features of an extrapyramidal movement disorder accompanied by varying degrees of intellectual disability and abnormal iron deposition in the basal ganglia. The genetic basis of ten forms of NBIA is now known. The clinical features of NBIA range from rapid global neurodevelopmental regression in infancy to mild parkinsonism with minimal cognitive impairment in adulthood, with wide variation seen between and within the specific NBIA sub-type. This review describes the clinical presentations, imaging findings, pathologic features, and treatment considerations for this heterogeneous group of disorders.
Original Articles
Current Status of Huntington’s Disease in Korea: A Nationwide Survey and National Registry Analysis
Hyun Sook Kim, Chul Hyoung Lyoo, Phil Hyu Lee, Sang Jin Kim, Mee Young Park, Hyeo-Il Ma, Jae Hyeok Lee, Sook Kun Song, Jong Sam Baik, Jin Ho Kim, Myung Sik Lee
J Mov Disord. 2015;8(1):14-20.   Published online January 31, 2015
DOI: https://doi.org/10.14802/jmd.14038
  • 14,351 View
  • 107 Download
  • 12 Citations
AbstractAbstract PDF
Objective Huntington’s disease (HD) is a rare neurological disorder, and its current status in Korea is not well investigated. This study aims to determine the prevalence and incidence of HD and to investigate the clinical features of HD patients in Korea.
Methods We estimated the crude prevalence and annual incidence of HD based on the databases of the Rare Diseases Registry (RDR) and the National Health Insurance (NHI). The clinical data of genetically confirmed HD patients was collected from 10 referral hospitals and analyzed.
Results The mean calculated annual incidence was 0.06 cases per 100,000 persons, and the mean calculated prevalence was 0.38 based on the NHI database. The estimated crude prevalence based on the RDR was 0.41. Of the sixty-eight HD patients recruited, the mean age of onset was 44.16 ± 14.08 years and chorea was most frequently reported as the initial symptom and chief complaint. The mean CAG repeat number of the expanded allele was 44.7 ± 4.8 and correlated inversely with the age of onset (p < 0.001). About two-thirds of the patients have a positive family history, and HD patients without positive family history showed a delay in onset of initial symptoms, a prolonged interval between initial symptom onset and genetic diagnosis and a delay in the age of genetic diagnosis.
Conclusions To the best of our knowledge, this is the first study to estimate the prevalence and incidence of HD in Korea and the largest HD series in the Asian population. Our analyses might be useful for further studies and large-scale investigations in HD patients.
Apathy and Olfactory Dysfunction in Early Parkinson’s Disease
Jin Yong Hong, Mun Kyung Sunwoo, Jee Hyun Ham, Jae Jung Lee, Phil Hyu Lee, Young H. Sohn
J Mov Disord. 2015;8(1):21-25.   Published online January 31, 2015
DOI: https://doi.org/10.14802/jmd.14029
  • 13,098 View
  • 92 Download
  • 19 Citations
AbstractAbstract PDF
Objective Olfactory and emotional dysfunctions are very common in patients with Parkinson’s disease (PD). Olfaction and emotions share common neuroanatomical substrates. Therefore, in this study, we evaluated the association between olfactory and emotional dysfunctions in patients with PD.
Methods Parkinson’s disease patients who had been assessed for their olfactory function and neuropsychiatric symptoms including emotional dysfunction were included. A logistic regression analysis was performed to evaluate the association between low olfaction and different neuropsychiatric symptoms.
Results The patients with low olfaction (cross cultural smell identification test score ≤ 6) showed a higher prevalence of apathy when compared with those with high olfaction, whereas the frequencies of other neuropsychiatric symptoms were comparable between the two groups. A multivariate logistic regression analysis revealed that the presence of apathy/indifference [odds ratio (OR) = 2.859, p = 0.007], age 70 years or more (OR = 2.281, p = 0.009), and the male gender (OR = 1.916, p = 0.030) were significantly associated with low olfaction.
Conclusions Our results demonstrate that apathy/indifference is a unique emotional dysfunction associated with olfactory dysfunction in PD. The findings also suggest that PD patients with low olfaction have a high prevalence of apathy.
Neuropsychiatric Symptoms in Parkinson’s Disease Dementia Are Associated with Increased Caregiver Burden
Yoon-Sang Oh, Ji E. Lee, Phil Hyu Lee, Joong-Seok Kim
J Mov Disord. 2015;8(1):26-32.   Published online January 31, 2015
DOI: https://doi.org/10.14802/jmd.14019
  • 17,680 View
  • 109 Download
  • 29 Citations
AbstractAbstract PDF
Objective Neuropsychiatric symptoms are common in Parkinson’s disease dementia (PDD). Frequent and severe neuropsychiatric symptoms create high levels of distress for patients and caregivers, decreasing their quality of life. The aim of this study was to investigate neuropsychiatric symptoms that may contribute to increased caregiver burden in PDD patients.
Methods Forty-eight PDD patients were assessed using the 12-item Neuropsychiatric Inventory (NPI) to determine the frequency and severity of mental and behavioral problems. The Burden Interview and Caregiver Burden Inventory were used to evaluate caregiver burden.
Results All but one patient showed one or more neuropsychiatric symptoms. The three most frequent neuropsychiatric symptoms were apathy (70.8%) and anxiety (70.8%), followed by depression (68.7%). More severe neuropsychiatric symptoms were significantly correlated with increased caregiver burden. The domains of delusion, hallucination, agitation and aggression, anxiety, irritability and lability, and aberrant motor behavior were associated with caregiver stress. After controlling for age and other potential confounding variables, total NPI score was significantly associated with caregiver burden.
Conclusions The results of this study confirm that neuropsychiatric symptoms are frequent and severe in patients with PDD and are associated with increased caregiver distress. A detailed evaluation and management of neuropsychiatric symptoms in PDD patients appears necessary to improve patient quality of life and reduce caregiver burden.
Ataxia with Vitamin E Deficiency in Norway
Areej Elkamil, Krisztina K. Johansen, Jan Aasly
J Mov Disord. 2015;8(1):33-36.   Published online January 31, 2015
DOI: https://doi.org/10.14802/jmd.14030
  • 10,016 View
  • 153 Download
  • 13 Citations
AbstractAbstract PDF
Objective Ataxia with vitamin E deficiency (AVED) is a rare autosomal recessive neurological disorder which usually starts in childhood. The clinical presentation is very similar to Friedreich ataxia, most patients have progressive truncal and extremity ataxia, areflexia, positive Babinski sign, dysarthria and sensory neuropathy.
Methods We made an inquiry to our colleagues in Norway, we included information from a prevalence study published southern Norway and added data from our own known case.
Results A newly published prevalence study of hereditary ataxias (total of 171 subjects) found only one subject with AVED in Southeast Norway. We describe two more patients, one from the Central part and one from the Northern part of Norway. All 3 cases had age of onset in early childhood (age of 4–5 years) and all experienced gait ataxia and dysarthria. The genetic testing confirmed that they had pathogenic mutations in the α-tocopherol transfer protein gene (TTPA). All were carriers of the non-sense c.400C > T mutation, one was homozygous for that mutation and the others were compound heterozygous, either with c.358G > A or c.513_514insTT. The homozygous carrier was by far the most severely affected case.
Conclusions We estimate the occurrence of AVED in Norway to be at least 0.6 per million inhabitants. We emphasize that all patients who develop ataxia in childhood should be routinely tested for AVED to make an early diagnosis for initiating treatment with high dose vitamin E to avoid severe neurological deficits.
Letter to the editor
A Patient with Unilateral Periodic Leg Movements Associated with Pontine Infarction
Joon Won Lee, Kyong Jin Shin, Sam Yeol Ha, Jinse Park, Kang Min Park
J Mov Disord. 2015;8(1):37-39.   Published online January 31, 2015
DOI: https://doi.org/10.14802/jmd.14017
  • 14,041 View
  • 44 Download
  • 3 Citations
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JMD : Journal of Movement Disorders