Journal of Movement Disorders

Volume 8(2); May 2015

Review Articles

Untangling the Thorns: Advances in the Neuroacanthocytosis Syndromes: Ruth H. Walker; J Mov Disord. 2015;8(2):41-54. Published online May 31, 2015; DOI: https://doi.org/10.14802/jmd.15009

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There have been significant advances in neuroacanthocytosis (NA) syndromes in the past 20 years, however, confusion still exists regarding the precise nature of these disorders and the correct nomenclature. This article seeks to clarify these issues and to summarise the recent literature in the field. The four key NA syndromes are described here–chorea-acanthocytosis, McLeod syndrome, Huntington’s disease-like 2, and pantothenate kinase- associated neurodegeneration. In the first two, acanthocytosis is a frequent, although not invariable, finding; in the second two, it occurs in approximately 10% of patients. Degeneration affecting the basal ganglia is the key neuropathologic finding, thus the clinical presentations can be remarkably similar. The characteristic phenotype comprises a variety of movement disorders, including chorea, dystonia, and parkinsonism, and also psychiatric and cognitive symptoms attributable to basal ganglia dysfunction. The age of onset, inheritance patterns, and ethnic background differ in each condition, providing diagnostic clues. Other investigations, including routine blood testing and neuroimaging can be informative. Genetic diagnosis, if available, provides a definitive diagnosis, and is important for genetic counseling, and hopefully molecular therapies in the future. In this article I provide a historical perspective on each NA syndrome. The first 3 disorders, chorea-acanthocytosis, McLeod syndrome, Huntington’s disease-like 2, are discussed in detail, with a comprehensive review of the literature to date for each, while pantothenate kinase-associated neurodegeneration is presented in summary, as this disorder has recently been reviewed in this journal. Therapy for all of these diseases is, at present, purely symptomatic.

Citations

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Huntington's disease-like disorders in Latin America and the Caribbean
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Feeding Dystonia
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Comment on: Consequences of Delayed Dental Extraction in Lesch-Nyhan Disease
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Novel VPS13A Gene Mutations Identified in Patients Diagnosed with Chorea-acanthocytosis (ChAc): Case Presentation and Literature Review
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Hippocampal sclerosis and mesial temporal lobe epilepsy in chorea-acanthocytosis: a case with clinical, pathologic and genetic evaluation
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Peripheral neuropathy in complex inherited diseases: an approach to diagnosis
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Huntington's Disease, Huntington's Disease Look-Alikes‎, and Benign Hereditary Chorea: What's New?
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Neurological Disorders Associated with Striatal Lesions: Classification and Diagnostic Approach
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¹²³I-Metaiodobenzylguanidine Myocardial Scintigraphy in Lewy Body-Related Disorders: A Literature Review: Eun Joo Chung, Sang Jin Kim; J Mov Disord. 2015;8(2):55-66. Published online May 31, 2015; DOI: https://doi.org/10.14802/jmd.15015

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Abstract PDF

Lewy body-related disorders are characterized by the presence of Lewy bodies and Lewy neurites, which have abnormal aggregations of α-synuclein in the nigral and extranigral areas, including in the heart. 123I-metaiodobenzylguanidine (MIBG) scintigraphy is a well-known tool to evaluate cardiac sympathetic denervation in the Lewy body-related disorders. MIBG scintigraphy showed low uptake of MIBG in the Lewy body-related disorders, including Parkinson’s disease, dementia with Lewy bodies, pure autonomic failure and rapid eye movement sleep behavior disorder. This review summarizes previous results on the diagnostic applications of MIBG scintigraphy in Lewy body-related disorders.

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Hereditary Cerebellar Ataxias: A Korean Perspective: Ji Sun Kim, Jin Whan Cho; J Mov Disord. 2015;8(2):67-75. Published online May 31, 2015; DOI: https://doi.org/10.14802/jmd.15006

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Abstract PDF

Hereditary ataxia is a heterogeneous disorder characterized by progressive ataxia combined with/without peripheral neuropathy, extrapyramidal symptoms, pyramidal symptoms, seizure, and multiple systematic involvements. More than 35 autosomal dominant cerebellar ataxias have been designated as spinocerebellar ataxia, and there are 55 recessive ataxias that have not been named systematically. Conducting genetic sequencing to confirm a diagnosis is difficult due to the large amount of subtypes with phenotypic overlap. The prevalence of hereditary ataxia can vary among countries, and estimations of prevalence and subtype frequencies are necessary for planning a diagnostic strategy in a specific population. This review covers the various hereditary ataxias reported in the Korean population with a focus on the prevalence and subtype frequencies as the clinical characteristics of the various subtypes.

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Gastrointestinal Autonomic Dysfunction in Patients with Parkinson’s Disease: Joong-Seok Kim, Hye-Young Sung; J Mov Disord. 2015;8(2):76-82. Published online May 31, 2015; DOI: https://doi.org/10.14802/jmd.15008

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35 Citations

Abstract PDF

Currently, gastrointestinal dysfunctions in Parkinson’s disease (PD) are well-recognized problems and are known to be an initial symptom in the pathological process that eventually results in PD. Gastrointestinal symptoms may result from the involvement of either the central or enteric nervous systems, or these symptoms may be side effects of antiparkinsonian medications. Weight loss, excessive salivation, dysphagia, nausea/gastroparesis, constipation, and defecation dysfunction all may occur. Increased identification and early detection of these symptoms can result in a significant improvement in the quality of life for PD patients.

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Nonmotor Symptoms and Subthalamic Deep Brain Stimulation in Parkinson’s Disease: Han-Joon Kim, Beom S. Jeon, Sun Ha Paek; J Mov Disord. 2015;8(2):83-91. Published online May 31, 2015; DOI: https://doi.org/10.14802/jmd.15010

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39 Citations

Abstract PDF

Subthalamic deep brain stimulation (STN DBS) is an established treatment for the motor symptoms in patients with advanced Parkinson’s disease (PD). In addition to improvements in motor symptoms, many studies have reported changes in various nonmotor symptoms (NMSs) after STN DBS in patients with PD. Psychiatric symptoms, including depression, apathy, anxiety, and impulsivity, can worsen or improve depending on the electrical stimulation parameters, the locations of the stimulating contacts within the STN, and changes in medications after surgery. Global cognitive function is not affected by STN DBS, and there is no increase in the incidence of dementia after STN DBS compared to that after medical treatment, although clinically insignificant declines in verbal fluency have been consistently reported. Pain, especially PD-related pain, improves with STN DBS. Evidence regarding the effects of STN DBS on autonomic symptoms and sleep-related problems is limited and remains conflicting. Many symptoms of nonmotor fluctuations, which are occasionally more troublesome than motor fluctuations, improve with STN DBS. Although it is clear that NMSs are not target symptoms for STN DBS, NMSs have a strong influence on the quality of life of patients with PD, and clinicians should thus be aware of these NMSs when deciding whether to perform surgery and should pay attention to changes in these symptoms after STN DBS to ensure the optimal care for patients.

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Many Faces of Parkinson’s Disease: Non-Motor Symptoms of Parkinson’s Disease: Hye Mi Lee, Seong-Beom Koh; J Mov Disord. 2015;8(2):92-97. Published online May 31, 2015; DOI: https://doi.org/10.14802/jmd.15003

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503 Download
74 Citations

Abstract PDF

Parkinson’s disease (PD) is a multi-systemic disorder that is characterized by a combination of motor and non-motor symptoms (NMS). The dopaminergic neurodegeneration of PD is involved in the genesis of NMS, but other conditions and side effects of levodopa are also associated with NMS. NMS can develop at all stage of PD and rapid eyeball movement sleep behavior disorder (RBD), constipation, depression, and olfactory dysfunction are considered prodromal signs of PD. Many NMS related with motor deficits and cognitive dysfunction. Some NMS including olfactory dysfunction, RBD and abnormal stereopsis are associated with presence of other NMS of PD. In addition, several NMS can be helpful to differentiate between idiopathic PD and other parkinsonian disorders. Early recognition and management of NMS in PD patients is important for preserving quality of life.

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Original Article

Effect of Rivastigmine on Behavioral and Psychiatric Symptoms of Parkinson’s Disease Dementia: Yoon-Sang Oh, Joong-Seok Kim, Phil Hyu Lee; J Mov Disord. 2015;8(2):98-102. Published online May 31, 2015; DOI: https://doi.org/10.14802/jmd.15041

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Abstract PDF

Objective A recent study showed that rivastigmine and memantin improved behavioral and psychiatric symptoms of dementia (BPSD) in Alzheimer’s dementia. Furthermore, according to recent guidelines presented by the Movement Disorder Society, rivastigmine is efficacious for the treatment of dementia in Parkinson’s disease (PD). We investigated the efficacy of rivastigmine for BPSD in patients with Parkinson’s disease dementia (PDD).
Methods Twenty-three patients in whom cognitive impairment occurred at least one year after a diagnosis of PD participated in this open-label trial. Cognitive, psychiatric, and motor symptoms were assessed before and after 24 weeks of treatment with rivastigmine using unstructured clinical assessments and rating scales including the Unified Parkinson’s Disease Rating Scale, Mini-Mental State Examination (MMSE), and the Neuropsychiatric Inventory.
Results Age (± standard deviation) was 74.7 ± 5.9 years, average duration of PD was 3.5 ± 3.7 years, Hoehn and Yahr scores were 2.2 ± 0.8, and baseline MMSE scores were 19.1 ± 4.2. Improvements in global mental symptoms and neuropsychiatric symptoms were significant; among them, hallucination, depression and appetite changes improved. Caregiver distress significantly decreased, including distress resulting from hallucinations, depression, apathy, and appetite changes.
Conclusions Although controlled trials are required, the findings suggest that rivastigmine is useful for control of several neuropsychiatric symptoms and beneficial for caregiver distress in patients with PDD.

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