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JMD : Journal of Movement Disorders

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Volume 10(2); May 2017
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Review Article
Structure, Distribution, and Genetic Profile of α-Synuclein and Their Potential Clinical Application in Parkinson’s Disease
Xiaoli Si, Jiali Pu, Baorong Zhang
J Mov Disord. 2017;10(2):69-79.   Published online May 8, 2017
DOI: https://doi.org/10.14802/jmd.16061
  • 8,743 View
  • 335 Download
  • 6 Citations
AbstractAbstract PDF
Parkinson’s disease (PD), the second most common neurodegenerative disorder after Alzheimer’s disease, is characterized by the loss of nigral dopaminergic neurons. PD leads to a series of clinical symptoms, including motor and non-motor disturbances. α-synuclein, the major component of Lewy bodies, is a hallmark lesion in PD. In this review, we concentrate on presenting the latest research on the structure, distribution, and function of α-synuclein, and its interactions with PD. We also summarize the clinic applications of α-synuclein, which suggest its use as a biomarker, and the latest progress in α-synuclein therapy.
Original Article
Comparison of Pallidal and Subthalamic Deep Brain Stimulation in Parkinson’s Disease: Therapeutic and Adverse Effects
Ho-Sung Ryu, Mi-Sun Kim, Sooyeoun You, Mi-Jung Kim, Young Jin Kim, Juyeon Kim, Kiju Kim, Sun Ju Chung
J Mov Disord. 2017;10(2):80-86.   Published online May 8, 2017
DOI: https://doi.org/10.14802/jmd.17001
  • 6,232 View
  • 240 Download
  • 6 Citations
AbstractAbstract PDFSupplementary Material
Objective
To compare the therapeutic and adverse effects of globus pallidus interna (GPi) and subthalamic nucleus (STN) deep brain stimulation (DBS) for the treatment of advanced Parkinson’s disease (PD).
Methods
We retrospectively analyzed the clinical data of patients with PD who underwent GPi (n = 14) or STN (n = 28) DBS surgery between April 2002 and May 2014. The subjects were matched for age at surgery and disease duration. The Unified Parkinson’s Disease Rating Scale (UPDRS) scores and levodopa equivalent dose (LED) at baseline and 12 months after surgery were used to assess the therapeutic effects of DBS. Adverse effects were also compared between the two groups.
Results
At 12 months, the mean changes in the UPDRS total and part I–IV scores did not differ significantly between the two groups. However, the subscores for gait disturbance/postural instability and dyskinesia were significantly more improved after GPi DBS than those after STN DBS (p = 0.024 and 0.016, respectively). The LED was significantly more reduced in patients after STN DBS than that after GPi DBS (p = 0.004). Serious adverse effects did not differ between the two groups (p = 0.697).
Conclusion
The patients with PD showed greater improvement in gait disturbance/postural instability and dyskinesia after GPi DBS compared with those after STN DBS, although the patients had a greater reduction in LED after STN DBS. These results may provide useful information for optimal target selection for DBS in PD.
Case Reports
Progressive Supranuclear Gaze Palsy with Predominant Cerebellar Ataxia: A Case Series with Videos
Zheyu Xu, Tchoyoson C.C. Lim, Wing Lok Au, Louis C.S. Tan
J Mov Disord. 2017;10(2):87-91.   Published online April 18, 2017
DOI: https://doi.org/10.14802/jmd.16059
  • 9,089 View
  • 248 Download
  • 3 Citations
AbstractAbstract PDFSupplementary Material
Progressive supranuclear palsy (PSP) with predominant cerebellar ataxia (PSP-C) is a rare phenotype of PSP. The clinical and radiological features of this disorder remain poorly characterized. Through a retrospective case series, we aim to characterize the clinical and radiological features of PSP-C. Four patients with PSP-C were identified: patients who presented with prominent cerebellar dysfunction that disappeared with the progression of the disease. Supranuclear gaze palsy occurred at a mean of 2.0 ± 2.3 years after the onset of ataxia. Mild cerebellar volume loss and midbrain atrophy were detected on brain imaging, which are supportive of a diagnosis of PSP. Videos are presented illustrating the co-existence of cerebellar signs and supranuclear gaze palsy and the disappearance of cerebellar signs with disease progression. Better recognition and the development of validated diagnostic criteria would aid in the antemortem recognition of this rare condition.
Holmes’ Tremor with Shoulder Pain Treated by Deep Brain Stimulation of Unilateral Ventral Intermediate Thalamic Nucleus and Globus Pallidus Internus
Sabri Aydın, Huseyin Canaz, Ezgi Tuna Erdogan, Nazlı Durmaz, Barıs Topcular
J Mov Disord. 2017;10(2):92-95.   Published online April 18, 2017
DOI: https://doi.org/10.14802/jmd.16051
  • 5,347 View
  • 112 Download
  • 3 Citations
AbstractAbstract PDF
A 21-year-old male was admitted with severe right arm and hand tremors after a thalamic hemorrhage caused by a traffic accident. He was also suffering from agonizing pain in his right shoulder that manifested after the tremor. Neurologic examination revealed a disabling, severe, and irregular kinetic and postural tremor in the right arm during target-directed movements. There was also an irregular ipsilateral rest tremor and dystonic movements in the distal part of the right arm. The amplitude was moderate at rest and extremely high during kinetic and intentional movements. The patient underwent left globus pallidum internus and ventral intermediate thalamic nucleus deep brain stimulation. The patient improved by more than 80% as rated by the Fahn-Tolosa-Marin Tremor Rating Scale and Visual Analog Scale six months after surgery.
Paroxysmal Kinesigenic Dyskinesia as the Presenting and Only Manifestation of Multiple Sclerosis after Eighteen Months of Follow-Up
Marius Baguma, Michel Ossemann
J Mov Disord. 2017;10(2):96-98.   Published online March 24, 2017
DOI: https://doi.org/10.14802/jmd.16055
  • 6,838 View
  • 159 Download
  • 3 Citations
AbstractAbstract PDF
Other than tremor, movement disorders are uncommon in multiple sclerosis. Among these uncommon clinical manifestations, paroxysmal kinesigenic dyskinesia is the most frequently reported. It is characterized by episodic attacks of involuntary movements that are induced by repetitive or sudden movements, startling noise or hyperventilation. The diagnosis is essentially clinical and based on a good observation of the attacks. It is very easy to misdiagnose it. We describe the case of a young female patient who presented paroxysmal kinesigenic dyskinesia as the first and only clinical manifestation of multiple sclerosis, with no recurrence of attacks nor any other neurologic symptom after eighteen months of follow-up.
Progressive Encephalomyelitis with Rigidity and Myoclonus in an Intellectually Disabled Patient Mimicking Neuroleptic Malignant Syndrome
Zheyu Xu, Kalpana Prasad, Tianrong Yeo
J Mov Disord. 2017;10(2):99-101.   Published online March 24, 2017
DOI: https://doi.org/10.14802/jmd.16058
  • 7,398 View
  • 235 Download
  • 5 Citations
AbstractAbstract PDF
We present a case of 32-year-old male with profound mental retardation and autism spectrum disorder who had presented with seizures, rigidity and elevated creatine kinase and was initially diagnosed as neuroleptic malignant syndrome (NMS). The patient subsequently had a complicated clinical course, developing refractory status epilepticus, which lead to the eventual diagnosis of progressive encephalomyelitis with rigidity and myoclonus (PERM). We discuss the clinical similarities and differences between NMS and PERM, and highlight the need to consider alternative diagnoses when the clinical picture of NMS is atypical, particularly in this patient group where the history and clinical examination may be challenging.
Letters to the editor
Beyond the Classic Segawa Disease, GCH1-Associated Neurodegenerative Parkinsonism: Practical Considerations for Physicians
Jirat Chenbhanich, Jirada Sringean, Roongroj Bhidayasiri
J Mov Disord. 2017;10(2):102-104.   Published online April 18, 2017
DOI: https://doi.org/10.14802/jmd.17009
  • 6,009 View
  • 118 Download
  • 4 Citations
PDF
Isolated Neurological Manifestation in Silent Celiac Disease
Salma Tarabzouni, Thamer AlKhairallah
J Mov Disord. 2017;10(2):105-107.   Published online March 24, 2017
DOI: https://doi.org/10.14802/jmd.16063
  • 4,996 View
  • 126 Download
  • 2 Citations
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JMD : Journal of Movement Disorders