- A Case of Spinocerebellar Ataxia Type 6 Presenting Downbeat Nystagmus Alone
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Kim CH, Lee KY, Lee YJ, Koh SH
- KMID: 2343321
- J Korean Neurol Assoc.
- 2008 Feb;26(1):92-94.
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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
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- Dentatorubropallidoluysian Atrophy (DRPLA) With Comitant Esotropia
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Yoo JK, Koo YS, Kwon DY, Park MH, Park KW
- KMID: 2191932
- J Korean Neurol Assoc.
- 2009 Nov;27(4):428-431.
The possibility of a central origin should be considered for late-onset concomitant esotropia. Concomitant esotropia has been reported to occur with spinocerebellar ataxia types 1, 2, and 3, but not... -
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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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- A Case of Spinocerebellar Ataxia Type 1 with Atypical Features
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Koh SH, Yoon OY, Kim J, Kim HT
- KMID: 2342940
- J Korean Neurol Assoc.
- 2001 Sep;19(5):553-554.
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- Spinocerebellar Ataxia Type 7 without Retinal Degeneration: A Case Rreport
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Kim BC, Kim MK, Cho KH, Jeon BS
- KMID: 1109775
- J Korean Med Sci.
- 2002 Aug;17(4):577-579.
- doi: 10.3346/jkms.2002.17.4.577
A 60-yr-old man developed progressive gait disturbance and limb ataxia at the age of 52. Family history was absent for neurological disorders. Examinations showed pure cerebellar syndrome. There was no... -
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- Spinocerebellar ataxia type 2 in seven Korean families: CAG trinucleotide expansion and clinical characteristics
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Kim JM, Shin SS, Kim JY, Joo SI, Park SS, Kim JW, Jeon BS
- KMID: 646043
- J Korean Med Sci.
- 1999 Dec;14(6):659-664.
- doi: 10.3346/jkms.1999.14.6.659
Studies on spinocerebellar ataxias (SCA) have been hampered by a lack of disease markers. Clinical and pathological heterogeneity also made the classification unreliable. Linkage studies established that there are multiple... -
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- A Case of Spinocerebellar Ataxia Type 7 with Torticollis
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Lee JG, Kim HS, Lee MS
- KMID: 2185774
- J Korean Neurol Assoc.
- 2003 Dec;21(6):663-666.
The spinocerebellar ataxia type 7 is an autosomal dominant neurodegenerative disorder with expansion of unstable CAG trinucleotide repeats in a gene on chromosome 3p, and is classified as autosomal dominant... -
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- A Case of Dentatorubropallidoluysian Atrophy with Corneal Endothelial Degeneration
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Lee JH, Joo H, Park KP, Kim DS, Park KH, Jung DS
- KMID: 2343067
- J Korean Neurol Assoc.
- 2003 Oct;21(5):539-542.
Corneal endothelial degeneration has been reported in diseases associated with CAG repeat expansion including spinocerebellar ataxia type 1 (SCA1) and dentatorubropallidoluysian atrophy (DRPLA). We report a 35-year-old man who has... -
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- Craniocervical Segmental Dystonia in the Spinocerebellar Ataxia Type 2
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Roh JH, Koh SB, Kim JH, Lee DH, Park KW
- KMID: 1527874
- J Korean Neurol Assoc.
- 2007 May;25(2):232-235.
The spinocerebellar ataxia type 2 (SCA 2) is an autosomal dominant cerebellar ataxia that commonly presents with cerebellar ataxia, hyporeflexia, and slow saccades. Recent clinical series described movement disorder in... -
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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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- 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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- 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 and Episodic Ataxia Type 2 in a Korean Family
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Koh SH, Kim HT, Kim SH, Lee GY, Kim J, Kim MH
- KMID: 648369
- J Korean Med Sci.
- 2001 Dec;16(6):809-813.
- doi: 10.3346/jkms.2001.16.6.809
Spinocerebellar ataxia type 6 (SCA6), episodic ataxia type 2 (EA2) and familial hemiplegic migraine (FHM) have been known as allelic disorders, which are caused by the alteration of the alpha1A... -
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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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- Spinocerebellar Ataxia Type 3 Confirmed by Genomic Molecular Analysis: A case report
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Ahn KH, Kim HS, Kim HW, Kim DH, Yu SD, Cha SM, Park SS
- KMID: 2323662
- J Korean Acad Rehabil Med.
- 2001 Aug;25(4):714-719.
Dominantly inherited spinocerebellar ataxias (SCAs) are a group of the heterogenous neurodegenerative diseases that are characterized by chronic progressive cerebellar ataxia associated with various combinations of other neurological signs. Clinical... -
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- A Case of Familial Spinocerebellar Ataxia Type 8
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Lee SH, Ki CS, Cho HI, Lee PW, Kim JW, Lee WY
- KMID: 2343123
- J Korean Neurol Assoc.
- 2004 Dec;22(6):659-662.
Spinocerebellar ataxia type 8 (SCA8), originally described in a family characterized by pure cerebellar ataxia, is caused by the expansion of combined CTA/CTG repeats on chromosome 13q21. We experienced a... -
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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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- A Case of Juvenile Onset Spinocerebellar Ataxia Type 3
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Kim JS, Kim YI, Lee KS, Jin DK
- KMID: 2329239
- J Korean Child Neurol Soc.
- 2000 Dec;8(2):329-332.
The genetic locus of spinocerebellar ataxia type 3 (SCA3) is linked to chromosome 14q 24.3-qter like Machado-Joseph disease (MJD). The number of CAG repeats on mutant chromosome correlates positively with severity of... -
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- A Case of Spinocerebellar Ataxia Type 2
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Hong S, Lee GH, Yang DW, Lee W, Lee B, Kim JW
- KMID: 2329238
- J Korean Child Neurol Soc.
- 2000 Dec;8(2):324-328.
This is a case of a boy with autosomal dominant cerebellar ataxia (SCA type 2), which was confirmed by DNA analysis. A 9-year-old boy had been suffering from tremor in both arm... -
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