- Assessment of Bone Mineral Density of Patients with Spinocerebellar Ataxia Type 3
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Farias AM, Appenzeller S, França MC, Martinez A, Etchebehere EE, Souza TF, Santos AO
- KMID: 2438678
- J Mov Disord.
- 2019 Jan;12(1):43-46.
- doi: 10.14802/jmd.18041
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... -
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- Report on the External Quality Assessment Scheme for Molecular Diagnostics in Korea (2017)
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Kim MJ, Yoon MH, Song JY, Cho SI, Park SS, Seong MW
- KMID: 2437188
- J Lab Med Qual Assur.
- 2018 Dec;40(4):199-210.
- doi: 10.15263/jlmqa.2018.40.4.199
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... -
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- A Novel Homozygous Variant of SETX Causes Ataxia with Oculomotor Apraxia Type 2
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Tariq H, Imran R, Naz S
- KMID: 2424178
- J Clin Neurol.
- 2018 Oct;14(4):498-504.
- doi: 10.3988/jcn.2018.14.4.498
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... -
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- Expanding the Spectrum of Dopa-Responsive Dystonia (DRD) and Proposal for New Definition: DRD, DRD-plus, and DRD Look-alike
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Lee WW, Jeon B, Kim R
- KMID: 2415750
- J Korean Med Sci.
- 2018 Jul;33(28):e184.
- doi: 10.3346/jkms.2018.33.e184
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... -
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- The Etiologies of Chronic Progressive Cerebellar Ataxia in a Korean Population
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Kim JS, Kwon S, Ki CS, Youn J, Cho JW
- KMID: 2415055
- J Clin Neurol.
- 2018 Jul;14(3):374-380.
- doi: 10.3988/jcn.2018.14.3.374
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... -
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- Superficial Siderosis of the Central Nervous System due to Spinal Ependymoma
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Choi KE, Na SH, Jeong HS, Im JJ, Kim YD
- KMID: 2415650
- Ann Geriatr Med Res.
- 2018 Mar;22(1):43-45.
- doi: 10.4235/agmr.2018.22.1.43
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... -
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- Genetic Screening for Spinocerebellar Ataxia Genes in a Japanese Single-Hospital Cohort
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Sakakibara R, Tateno F, Kishi M, Tsuyusaki , Aiba Y, Terada H, Inaoka T, Sawai S, Kuwabara S, Nomura F
- KMID: 2395007
- J Mov Disord.
- 2017 Sep;10(3):116-122.
- doi: 10.14802/jmd.17011
OBJECTIVE: Diagnosis of sporadic cerebellar ataxia is a challenge for neurologists. A wide range of potential causes exist, including chronic alcohol use, multiple system atrophy of cerebellar type (MSA-C), and... -
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- A Patient Diagnosed with Spinocerebellar Ataxia Type 5 associated with SPTBN2: Case Report
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Hur MW, Ko A, Lee HJ, Lee JS, Kang HC
- KMID: 2392561
- J Korean Child Neurol Soc.
- 2017 Sep;25(3):200-203.
- doi: 10.26815/jkcns.2017.25.3.200
Spinocerebellar ataxias (SCAs) are autosomal dominant neurodegenerative disorders which disrupt the afferent and efferent pathways of the cerebellum that cause cerebellar ataxia. Spectrin beta non-erythrocytic 2 (SPTBN2) gene encodes the... -
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- Spinocerebellar Ataxia Type 8 Presenting as Ataxia without Definite Cerebellar Atrophy
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Eo YJ, Kim SK, Kim SH, Jang JW
- KMID: 2370974
- J Korean Neurol Assoc.
- 2017 Feb;35(1):55-57.
- doi: 10.17340/jkna.2017.1.15
No abstract available. -
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- Annual Report on the External Quality Assessment of Diagnostic Genetics in Korea (2015)
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Kim HY, Park CH, Lee SJ, Cho SI, Seong MW, Park SS, Kim SH, Diagnostic Genetics Subcommittee, Korean Association of External Quality Assessment Service
- KMID: 2162120
- J Lab Med Qual Assur.
- 2016 Mar;38(1):22-42.
- doi: 10.15263/jlmqa.2016.38.1.22
The Diagnostic Genetics Subcommittee of Korean Association of External Quality Assessment Service conducted two trials in 2015 based on cytogenetics and molecular genetics surveys. A total of 43 laboratories participated... -
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- Genetic Approach of Dizziness
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Choi JH
- KMID: 2131315
- Res Vestib Sci.
- 2015 Dec;14(4):101-109.
- doi: 10.0000/rvs.2015.14.4.101
Patients with recurrent vertigo/dizziness or unsteadiness are a heterogeneous group of complex disorders affecting the peripheral and central vestibular system. They represent a diagnostic challenge for the clinicians, and their... -
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- Annual Report on the External Quality Assessment Scheme for Diagnostic Genetics in Korea (2014)
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Park CH, Shin SY, Park H, Cho SI, Seong MW, Park SS, Kim SH, Diagnostic Genetics Subcommittee, The Korean Association of External Quality Assessment Service
- KMID: 2200370
- J Lab Med Qual Assur.
- 2015 Jun;37(2):64-83.
- doi: 10.15263/jlmqa.2015.37.2.64
Quality control for genetic tests has become more important as testing volume and clinical demands have increased dramatically. The diagnostic genetics subcommittee of Korean Association of External Quality Assessment Service... -
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- Analysis of trinucleotide repetitive sequences for Korean patients with spinocerebellar ataxia types 8, 12, and 17
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Kim GH, Chung SJ, Ryu HS, Kim J, Lee JJ, Choi SH, Lee J, Lee BH, Choi JH, Yoo HW
- KMID: 2055588
- J Genet Med.
- 2015 Jun;12(1):38-43.
- doi: 10.5734/JGM.2015.12.1.38
PURPOSE: Spinocerebellar ataxias (SCAs) are progressive neurodegenerative disorders with diverse modes of inheritance. There are several subtypes of SCAs. SCA 8, SCA 12, and SCA 17 are the less common... -
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- Distribution of five common subtypes of spinocerebellar ataxia in the Korean population
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Choi IH, Kim GH, Lee BH, Choi JH, Yoo HW
- KMID: 2184496
- J Genet Med.
- 2014 Dec;11(2):69-73.
- doi: 10.5734/JGM.2014.11.2.69
PURPOSE: Spinocerebellar ataxia (SCA) is a genetically heterogeneous disease for which more than 30 subtypes have been identified. However, 5 subtypes, SCA1, SCA2, SCA3, SCA6, and SCA7, account for more... -
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- Annual Report on the External Quality Assessment of Diagnostic Genetics in Korea (2013)
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Jang MA, Shin SY, Park S, Seong MW, Park SS, Kim SH, Diagnostic Genetics Subcommittee, The Korean Association of Quality Assurance for Clinical Laboratory
- KMID: 2200443
- J Lab Med Qual Assur.
- 2014 Jun;36(2):71-83.
Quality control for genetic tests has become more important as the test volume and clinical demands increase dramatically. The diagnostic genetics subcommittee of the Korean Association of Quality Assurance for... -
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- Spinocerebellar Ataxia Type 2 with Only Clinical Feature of Memory Impairment: Case Report
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Joo J, Han SW, Ha SW, Han JH, Kim DE, Yang Y
- KMID: 1973685
- Dement Neurocogn Disord.
- 2014 Mar;13(1):16-19.
- doi: 10.12779/dnd.2014.13.1.16
Spinocerebellar ataxia (SCA) is one of a group of genetic disorders characterized by slowly progressive incoordination of gait and often associated with poor coordination of hands, speech, and eye movements.... -
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- Non-Ataxic Phenotypes of SCA8 Mimicking Amyotrophic Lateral Sclerosis and Parkinson Disease
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Kim JS, Son TO, Youn J, Ki CS, Cho JW
- KMID: 1980548
- J Clin Neurol.
- 2013 Oct;9(4):274-279.
- doi: 10.3988/jcn.2013.9.4.274
BACKGROUND: Spinocerebellar ataxia (SCA) type 8 (SCA8) is an inherited neurodegenerative disorder caused by the expansion of untranslated CTA/CTG triplet repeats on 13q21. The phenomenology of SCA8 is relatively varied... -
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- Unstable Repeat Expansion in Neurodegenerative Dementias: Mechanisms of Disease
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Yang HD, Ho DH, Seol W
- KMID: 2172260
- Dement Neurocogn Disord.
- 2012 Mar;11(1):1-12.
- doi: 10.12779/dnd.2012.11.1.1
The majority of neurodegenerative dementias are thought to result primarily from the misfolding, aggregation and accumulation of proteins which interfere with protein homeostasis in the brain. Some of them are... -
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- Spinocerebellar Ataxia Type 6 Presenting With Cervical Dystonia
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Kim HI, Ko JA, Kim JS, Park JH, Park SA, Lee TK, Sung KB
- KMID: 2343377
- J Korean Neurol Assoc.
- 2010 Nov;28(4):301-303.
A 29-year-old man presented with involuntary head turning to the right. His family history showed that his mother and two maternal uncles had dysarthria and gait disturbance. Other than mild... -
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- Annual Report on External Quality Assessment in Diagnostic Genetics in Korea (2009)
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Kim SH, Ki CS, Kim S, Kwon MJ, Kim JW, Park SS, Kim JS, Lee YK, Kong SY, Ki SJ, Han SH, Seo EJ, CHo HC, Kim EJ, Kim PW
- KMID: 2200555
- J Lab Med Qual Assur.
- 2010 Jun;32(1):147-170.
BACKGROUND: The quality control for genetic tests would be of great importance as the test volume and clinical demands increase dramatically. Diagnostic genetics subcommittee of KSQACL performed two trials for... -
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