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JMD : Journal of Movement Disorders

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Volume 5(2); October 2012
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Review Article
Genetics of Parkinson’s Disease - A Clinical Perspective
Sang-Myung Cheon, Lilian Chan, Daniel Kam Yin Chan, Jae Woo Kim
J Mov Disord. 2012;5(2):33-41.
DOI: https://doi.org/10.14802/jmd.12009
  • 24,490 View
  • 84 Download
  • 9 Citations
AbstractAbstract PDF

Discovering genes following Medelian inheritance, such as autosomal dominant-synuclein and leucine-rich repeat kinase 2 gene, or autosomal recessive Parkin, P-TEN-induced putative kinase 1 gene and Daisuke-Junko 1 gene, has provided great insights into the pathogenesis of Parkinson’s disease (PD). Genes found to be associated with PD through investigating genetic polymorphisms or via the whole genome association studies suggest that such genes could also contribute to an increased risk of PD in the general population. Some environmental factors have been found to be associated with genetic factors in at-risk patients, further implicating the role of gene-environment interactions in sporadic PD. There may be confusion for clinicians facing rapid progresses of genetic understanding in PD. After a brief review of PD genetics, we will discuss the insight of new genetic discoveries to clinicians, the implications of ethnic differences in PD genetics and the role of genetic testing for general clinicians managing PD patients.

Original Article
Clinical Features and Disability Milestones in Multiple System Atrophy and Progressive Supranuclear Palsy
Sang-Wook Lee, Seong-Beom Koh
J Mov Disord. 2012;5(2):42-47.
DOI: https://doi.org/10.14802/jmd.12010
  • 11,426 View
  • 116 Download
  • 12 Citations
AbstractAbstract PDF

Multiple system atrophy (MSA) and progressive supranuclear palsy (PSP) are an adult-onset progressive neurodegenerative disorder that are known to display diverse clinical features and disease progression. We aim to characterize the clinical features and disease progression in patients with MSA and PSP by using a number of relevant disability milestones in Koreans. Forty-one patients with MSA and 14 patients with PSP had been enrolled. The mean age at onset of MSA-C, MSA-P and PSP was 56.7 ± 7.8, 62.5 ± 8.0, 68.9 ± 6.1 years respectively. The most commonly reported symptom at disease onset is disequilibrium/dizziness in MSA-C, tremor in MSA-P and frequent falling in PSP. The mean duration of reaching milestones after disease onset in MSA-C were as followings: 20.8 (urinary incontinence), 22.9 (frequent falling), 27.8 (wheelchair bound), 31.8 (dysarthria) and 35.8 months (diagnosis). The mean duration of reaching milestones after disease onset were 22.0 (urinary incontinence), 32.6 (frequent falling and diagnosis), 41.2 (dysarthria), 61.4 months (wheelchair bound) in MSA-P and 16.8 (dysarthria), 21.6 (diagnosis), 21.7 (frequent falling), 24.0 months (wheel chair bound) in PSP. In the case of MSA, dizziness may occur for the first time. Thus, when the patient complains of non-specific dizziness, a follow-up examination to distinguish it from MSA can be helpful. There was a trend for patients with MSA-C to reach more disability milestones than in MSA-P and PSP before diagnosis. It may explain why patients with MSA-C are required more detail history taking and neurologic examination at an earlier stage.

Case Reports
A Case of Multiple System Atrophy-Cerebellar Type Preceded by Dementia
Eun Hye Jang, Joo Kyung Lee, Hyun Jung Jang, Mi-Jung Kim, Sun Ju Chung
J Mov Disord. 2012;5(2):48-52.
DOI: https://doi.org/10.14802/jmd.12011
  • 14,282 View
  • 87 Download
  • 3 Citations
AbstractAbstract PDF

Multiple system atrophy (MSA) is a sporadic, adult-onset disease characterized by progressive degeneration of nervous systems including cerebellar, pyramidal, extrapyramidal, and autonomic system. Although a few recent studies reported that cognitive impairments could occur in patients with MSA, prominent dementia with progressive decline is not a typical clinical manifestation of MSA. In particular, dementia with MSA-cerebellar type is very rare. We have experienced a patient with 2-year history of severe cognitive impairment, who was finally diagnosed as MSA-cerebellar type.

Attention in Parkinson’s Disease Mimicking Suggestion in Psychogenic Movement Disorder
Jong Sam Baik
J Mov Disord. 2012;5(2):53-54.
DOI: https://doi.org/10.14802/jmd.12012
  • 11,884 View
  • 56 Download
  • 2 Citations
AbstractAbstract PDF

The various reported psychogenic movement disorders (PMDs) include tremor, dystonia, myoclonus, gait disorder, Parkinsonism, tics, and chorea. Although it is not easy to diagnose PMDs, several features such as distractibility, entrainment, suggestion and placebo trial are quite helpful to diagnose. Especially, distractibility or suggestion is a good tool to do in outpatient clinic easily. We describe a patient with parkinsonian features which were improved by internal suggestion to focusing attention. Initially, we suspected her diagnosis as PMDs; however she was confirmed with organic Parkinson’s disease later.

A Case of Intractable Psychogenic Essential Palatal Tremor
Eun Joo Chung, Hyun Jung, Sang Jin Kim
J Mov Disord. 2012;5(2):55-56.
DOI: https://doi.org/10.14802/jmd.12013
  • 9,361 View
  • 67 Download
  • 1 Citations
AbstractAbstract PDF

Essential palatal tremor (EPT) is a rare disorder which shows rhythmic involuntary movement of the muscles of soft palate, especially tensor veli palatini muscle. EPT is classified by two subtypes, which is primary and secondary EPT. Secondary EPT includes psychogenic type. We describe a case of intractable psychogenic EPT.


JMD : Journal of Movement Disorders