Skip Navigation
Skip to contents
Results by Year

View Wide

Filter

ARTICLE TYPE

more+
SELECT FILTER
 
Close

PUBLICATION DATE

164 results
Display

Chromosomal Deletion in 7q31.2-31.32 Involving Ca2⁺-Dependent Activator Protein for Secretion Gene in a Patient with Cerebellar Ataxia: a Case Report

Hong S, Lee SJ, Cho SR

We present a 33-year-old male patient with cerebellar ataxia. He was first considered to have a psychiatric conversion disorder but finally found to have chromosomal deletion in 7q31.2-31.32 involving Ca2⁺-dependent...
CITED
export Copy
Close
SHARE
Twitter Facebook
Close
Serial Magnetic Resonance Imaging Findings in Hyperglycemia-Related Osmotic Demyelination Syndrome: A Case Report

Kim JH, Park NH, Park JY, Kim SJ

We report a rare case of hyperglycemia-related osmotic demyelination syndrome (ODS) with focus on the imaging findings. A 61-year-old man with diabetes was admitted for general weakness and severe thirst....
CITED
export Copy
Close
SHARE
Twitter Facebook
Close
The Rise of Cerebellar Ataxia in South Korea: 2002–2016

Park Y, Park KW

No abstract available.
CITED
export Copy
Close
SHARE
Twitter Facebook
Close
Clinical and Genetic Spectrum of ATP1A3-Related Disorders in a Korean Pediatric Population

Kim WJ, Shim YK, Choi SA, Kim SY, Kim H, Hwang H, Choi J, Kim KJ, Chae JH, Lim BC

BACKGROUND AND PURPOSE: The aim of this study was to expand the understanding of the genotype-phenotype spectrum of ATP1A3-related disorders and to evaluate the therapeutic effect of a ketogenic diet...
CITED
export Copy
Close
SHARE
Twitter Facebook
Close
Biphasic Anaphylaxis and Delayed onset Cerebellar Ataxia following a Wasp Sting

Jeong H, Jung S, Yoon C, Cho E, Yang TW, Park KJ

Anaphylaxis usually develop immediately after wasp sting, but may develop even after few days later. Neurological complications after stings are uncommon, although several cases have been reported involving central and/or...
CITED
export Copy
Close
SHARE
Twitter Facebook
Close
Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay

Bong JB, Kim SW, Lee ST, Choi JR, Shin HY

Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS), which is caused by mutations in SACS gene, is a very rare neurodegenerative disorder characterized by the clinical triad of early onset cerebellar...
CITED
export Copy
Close
SHARE
Twitter Facebook
Close
Gerstmann-Sträussler-Scheinker Disease (Pro102Leu) Presenting as Rapidly Progressive Dementia

Jung SH, Chae SH, Hwangbo J, Kim HS, Lee YJ, Kim YS, Jung NY

Genetic prion diseases account for about 10-15% of all cases of human prion disease and are caused by mutations in the prion protein gene. Gerstmann-Sträussler-Scheinker (GSS) disease is a rare...
CITED
export Copy
Close
SHARE
Twitter Facebook
Close
Assessment of Bone Mineral Density of Patients with Spinocerebellar Ataxia Type 3

Farias AM, Appenzeller S, França MC, Martinez A, Etchebehere EE, Souza TF, Santos AO

OBJECTIVE: Machado-Joseph disease (MJD) is a spinocerebellar ataxia, and osteoporosis is a multifactor disease that may affect patients with neurologic conditions. The frequency of osteoporosis among MJD patients, however, has...
CITED
export Copy
Close
SHARE
Twitter Facebook
Close
The ‘Hot Cross Bun’ Sign Is Not Always Multiple System Atrophy: Etiologies of 11 Cases

Way C, Pettersson D, Hiller A

OBJECTIVE: To clarify the specificity of the ‘hot cross bun’ sign (HCBS) for multiple system atrophy (MSA) in adult cerebellar ataxia or parkinsonism. METHODS: The radiologic information systems at an academic...
CITED
export Copy
Close
SHARE
Twitter Facebook
Close
Clinical and Imaging Features of Multiple System Atrophy: Challenges for an Early and Clinically Definitive Diagnosis

Watanabe H, Riku Y, Hara K, Kawabata K, Nakamura T, Ito M, Hirayama M, Yoshida M, Katsuno M, Sobue G

Multiple system atrophy (MSA) is an adult-onset, progressive neurodegenerative disorder. Patients with MSA show various phenotypes during the course of their illness, including parkinsonism, cerebellar ataxia, autonomic failure, and pyramidal...
CITED
export Copy
Close
SHARE
Twitter Facebook
Close
Expanding the Spectrum of Dopa-Responsive Dystonia (DRD) and Proposal for New Definition: DRD, DRD-plus, and DRD Look-alike

Lee WW, Jeon B, Kim R

Previously, we defined DRD as a syndrome of selective nigrostriatal dopamine deficiency caused by genetic defects in the dopamine synthetic pathway without nigral cell loss. DRD-plus also has the same...
CITED
export Copy
Close
SHARE
Twitter Facebook
Close
The Etiologies of Chronic Progressive Cerebellar Ataxia in a Korean Population

Kim JS, Kwon S, Ki CS, Youn J, Cho JW

BACKGROUND AND PURPOSE: The etiologies and frequencies of cerebellar ataxias vary between countries. Our primary aim was to determine the frequency of each diagnostic group of cerebellar ataxia patients in...
CITED
export Copy
Close
SHARE
Twitter Facebook
Close
Superficial Siderosis with Peripheral Dizziness: Report of 2 Cases

Kim TH, Huh JH, Park MS, Byun JY

Superficial siderosis (SS) of the central nervous system is a rare disease, which is caused by the accumulation of iron from the hemoglobin in the superficial layer of the brain,...
CITED
export Copy
Close
SHARE
Twitter Facebook
Close
Sleep Related Problems as a Nonmotor Symptom of Dentatorubropallidoluysian Atrophy

Kim H, Yun JY, Choi KG, Koo H, Han HJ

Dentatorubropallidoluysian atrophy (DRPLA) is a neurodegenerative disease caused by an expansion of a cytosine-adenine-guanine (CAG) repeat encoding a polyglutamine tract in the atrophin-1 protein. Unlike other CAG repeat diseases, sleep...
CITED
export Copy
Close
SHARE
Twitter Facebook
Close
Emerging of Explosive Speech after Olanzapine in Multiple System Atrophy Patient

Kim YS, Kim SJ, Lee J, Kim HJ

BACKGROUND: Cerebellum has an important role in sensorimotor control including speech. Multiple system atrophy (MSA) is a sporadic and rapidly progressive neurodegenerative disorder that presents with autonomic failure in combination...
CITED
export Copy
Close
SHARE
Twitter Facebook
Close
Superficial Siderosis of the Central Nervous System due to Spinal Ependymoma

Choi KE, Na SH, Jeong HS, Im JJ, Kim YD

A 75-year-old woman presented with a 3-year history of progressive hearing loss, gait ataxia, and cognitive impairment. Brain magnetic resonance imaging (MRI) with a time gradient echo sequence showed deposition...
CITED
export Copy
Close
SHARE
Twitter Facebook
Close
Report on the External Quality Assessment Scheme for Molecular Diagnostics in Korea (2017)

Kim MJ, Yoon MH, Song JY, Cho SI, Park SS, Seong MW

Quality control for genetic analysis has become more important with a drastic increase in testing volume and clinical demands. The molecular diagnostics division of the Korean Association of Quality Assurance...
CITED
export Copy
Close
SHARE
Twitter Facebook
Close
Craniopharyngioma with Intratumoral Hemorrhage and Superficial Siderosis

Oh JH, Park ST, Lim HK

Superficial siderosis of the central nervous system (CNS) is a progressive and debilitating neurological disease manifesting sensorineural hearing loss, cerebellar ataxia, and pyramidal tract signs. Chronic extravasation of blood into...
CITED
export Copy
Close
SHARE
Twitter Facebook
Close
iPSC Modeling of Presenilin1 Mutation in Alzheimer's Disease with Cerebellar Ataxia

Li L, Roh JH, Chang EH, Lee Y, Lee S, Kim M, Koh W, Chang JW, Kim HJ, Nakanishi , Barker RA, Na DL, Song J

Disease modeling of Alzheimer's disease (AD) has been hampered by the lack of suitable cellular models while animal models are mainly based on the overexpression of AD-related genes which often...
CITED
export Copy
Close
SHARE
Twitter Facebook
Close
A Novel Homozygous Variant of SETX Causes Ataxia with Oculomotor Apraxia Type 2

Tariq H, Imran R, Naz S

BACKGROUND AND PURPOSE: Autosomal recessive cerebellar ataxias constitute a highly heterogeneous group of neurodegenerative disorders. This study was carried out to determine the clinical and genetic causes of ataxia in...
CITED
export Copy
Close
SHARE
Twitter Facebook
Close

Go to Top

Copyright © 2021 by Korean Association of Medical Journal Editors. All rights reserved.     E-mail: koreamed@kamje.or.kr