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Holmes' Tremor with Shoulder Pain Treated by Deep Brain Stimulation of Unilateral Ventral Intermediate Thalamic Nucleus and Globus Pallidus Internus.

Sabri AYDIN ; Huseyin CANAZ ; Ezgi Tuna ERDOGAN ; Nazlı DURMAZ ; Barıs TOPCULAR

Journal of Movement Disorders.2017;10(2):92-95. doi:10.14802/jmd.16051

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.
Accidents, Traffic ; Arm ; Deep Brain Stimulation* ; Felodipine ; Globus Pallidus* ; Hand ; Hemorrhage ; Humans ; Male ; Neurologic Examination ; Shoulder Pain* ; Shoulder* ; Tremor* ; Visual Analog Scale ; Young Adult

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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

Journal of Movement Disorders.2017;10(2):87-91. doi:10.14802/jmd.16059

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.
Ataxia ; Atrophy ; Cerebellar Ataxia* ; Cerebellar Diseases ; Diagnosis ; Disease Progression ; Humans ; Mesencephalon ; Neuroimaging ; Paralysis* ; Phenotype ; Retrospective Studies ; Supranuclear Palsy, Progressive

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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

Journal of Movement Disorders.2017;10(2):80-86. doi:10.14802/jmd.17001

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.
Deep Brain Stimulation* ; Dyskinesias ; Gait ; Globus Pallidus ; Humans ; Levodopa ; Parkinson Disease* ; Retrospective Studies ; Subthalamic Nucleus ; Therapeutic Uses

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Structure, Distribution, and Genetic Profile of α-Synuclein and Their Potential Clinical Application in Parkinson's Disease.

Xiaoli SI ; Jiali PU ; Baorong ZHANG

Journal of Movement Disorders.2017;10(2):69-79. doi:10.14802/jmd.16061

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.
alpha-Synuclein ; Alzheimer Disease ; Dopaminergic Neurons ; Lewy Bodies ; Neurodegenerative Diseases ; Parkinson Disease*

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Metronidazole-Induced Craniocervical Myoclonus with Reversible Bilateral Dentate Nucleus Lesions.

Hyun Chang LEE ; Young Eun KIM ; Hyeo Il MA

Journal of Movement Disorders.2017;10(1):67-68. doi:10.14802/jmd.16021

No abstract available.
Cerebellar Nuclei* ; Myoclonus*

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Multifocal Myoclonus as a Manifestation of Acute Cerebral Infarction Recovered by Carotid Arterial Stenting.

Hyangkyoung KIM ; Jun Soo BYUN ; Mark HALLETT ; Hae Won SHIN

Journal of Movement Disorders.2017;10(1):64-66. doi:10.14802/jmd.16040

No abstract available.
Cerebral Infarction* ; Myoclonus* ; Stents*

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Camptocormia with Transient Ischemic Attack.

Ju Hee OH ; Dong Woo RYU ; Si Hoon LEE ; Joong Seok KIM

Journal of Movement Disorders.2017;10(1):62-63. doi:10.14802/jmd.16043

No abstract available.
Ischemic Attack, Transient*

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Suspected Perinatal Depression Revealed to be Hereditary Diffuse Leukoencephalopathy with Spheroids.

Josefine BLUME ; Robert WEISSERT

Journal of Movement Disorders.2017;10(1):59-61. doi:10.14802/jmd.16050

Early motor symptoms of neurodegenerative diseases often appear in combination with psychiatric symptoms, such as depression or personality changes, and are in danger of being misdiagnosed as psychogenic in young patients. We present the case of a 32-year-old woman who presented with rapid-onset depression, followed by a hypokinetic movement disorder and cognitive decline during pregnancy. Genetic testing revealed a mutation in the colony-stimulating factor 1 receptor gene, which led to the diagnosis of hereditary diffuse leukoencephalopathy with spheroids. Hereditary diffuse leukoencephalopathy with spheroids (HDLS) is probably an under-recognized disease. HDLS should be considered in patients with rapidly progressing parkinsonian symptoms and dementia accompanied by white matter lesions.
Adult ; Dementia ; Depression* ; Diagnosis ; Female ; Genetic Testing ; Humans ; Leukoencephalopathies* ; Macrophage Colony-Stimulating Factor ; Movement Disorders ; Neurodegenerative Diseases ; Parkinsonian Disorders ; Pregnancy ; White Matter

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Familiar Hyperekplexia, a Potential Cause of Cautious Gait: A New Korean Case and a Systematic Review of Phenotypes.

Yoonju LEE ; Nan Young KIM ; Sangkyoon HONG ; Su Jin CHUNG ; Seong Ho JEONG ; Phil Hyu LEE ; Young H SOHN

Journal of Movement Disorders.2017;10(1):53-58. doi:10.14802/jmd.16044

Familial hyperekplexia, also called startle disease, is a rare neurological disorder characterized by excessive startle responses to noise or touch. It can be associated with serious injury from frequent falls, apnea spells, and aspiration pneumonia. Familial hyperekplexia has a heterogeneous genetic background with several identified causative genes; it demonstrates both dominant and recessive inheritance in the α1 subunit of the glycine receptor (GLRA1), the β subunit of the glycine receptor and the presynaptic sodium and chloride-dependent glycine transporter 2 genes. Clonazepam is an effective medical treatment for hyperekplexia. Here, we report genetically confirmed familial hyperekplexia patients presenting early adult cautious gait. Additionally, we review clinical features, mode of inheritance, ethnicity and the types and locations of mutations of previously reported hyperekplexia cases with a GLRA1 gene mutation.
Accidental Falls ; Adult ; Apnea ; Clonazepam ; Gait* ; Genetic Background ; Glycine Plasma Membrane Transport Proteins ; Humans ; Nervous System Diseases ; Noise ; Phenotype* ; Pneumonia, Aspiration ; Receptors, Glycine ; Reflex, Startle ; Sodium ; Stiff-Person Syndrome* ; Wills

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Exosome-Based Delivery of miR-124 in a Huntington's Disease Model.

Soon Tae LEE ; Wooseok IM ; Jae Jun BAN ; Mijung LEE ; Keun Hwa JUNG ; Sang Kun LEE ; Kon CHU ; Manho KIM

Journal of Movement Disorders.2017;10(1):45-52. doi:10.14802/jmd.16054

OBJECTIVE: Huntington's disease (HD) is a genetic neurodegenerative disease that is caused by abnormal CAG expansion. Altered microRNA (miRNA) expression also causes abnormal gene regulation in this neurodegenerative disease. The delivery of abnormally downregulated miRNAs might restore normal gene regulation and have a therapeutic effect. METHODS: We developed an exosome-based delivery method to treat this neurodegenerative disease. miR-124, one of the key miRNAs that is repressed in HD, was stably overexpressed in a stable cell line. Exosomes were then harvested from these cells using an optimized protocol. The exosomes (Exo-124) exhibited a high level of miR-124 expression and were taken up by recipient cells. RESULTS: When Exo-124 was injected into the striatum of R6/2 transgenic HD mice, expression of the target gene, RE1-Silencing Transcription Factor, was reduced. However, Exo-124 treatment did not produce significant behavioral improvement. CONCLUSION: This study serves as a proof of concept for exosome-based delivery of miRNA in neurodegenerative diseases.
Animals ; Cell Line ; Exosomes ; Huntington Disease* ; Methods ; Mice ; MicroRNAs ; Neurodegenerative Diseases ; Transcription Factors

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