- 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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- Successful Treatment with Olanzapine of Psychosis in Dentatorubral-pallidoluysian Atrophy: A Case Report
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Narita Z, Sumiyoshi
- KMID: 2412393
- Clin Psychopharmacol Neurosci.
- 2018 May;16(2):221-223.
- doi: 10.9758/cpn.2018.16.2.221
Patients with dentatorubral-pallidoluysian atrophy occasionally elicit psychosis. So far, one study reported first generation antipsychotics drugs may provide an effective treatment; however, there is no literature on the benefits of... -
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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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- A Case of Marinesco-Sjogren Syndrome with Brainstem Hypotrophy and Hyperthyroidism
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Park WS, Kang WY, Minn YK, Kwon KH
- KMID: 1635942
- J Korean Neurol Assoc.
- 2003 Aug;21(4):442-444.
No abstract available. -
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- Joubert Syndrome Associated with Leber's Congenital Amaurosis
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Yang HK, Yu YS, Hwang JM
- KMID: 2211746
- J Korean Ophthalmol Soc.
- 2008 Aug;49(8):1360-1363.
- doi: 10.3341/jkos.2008.49.8.1360
PURPOSE: To report a case of Joubert syndrome associated with Leber's congenital amaurosis. CASE SUMMARY: A 7-month-old boy was referred for poor eye contact and esodeviation since birth. He could not... -
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- Spinocerebellar Ataxia Type 6 in Two Korean Families
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Koh SH, Noh HJ, Kim SH, Kim HT, Shin DJ, Kim MK, Park SS, Kim JY, Jeon BS
- KMID: 2342801
- J Korean Neurol Assoc.
- 2000 May;18(3):298-303.
BACKGROUND: Spinocerebellar ataxia 6 (SCA6) is an autosomal dominant spinocerebellar degeneration and caused by the expansion of the polymorphic CAG repeat in the human alpha 1A voltage-dependent calcium channel subunit... -
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- Early-stage Alcoholic Cerebellar Degeneration: Diagnostic Imaging Clues
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Lee JH, Heo SH, Chang DI
- KMID: 2351100
- J Korean Med Sci.
- 2015 Nov;30(11):1539-1539.
- doi: 10.3346/jkms.2015.30.11.1539
No abstract available. -
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- Distribution of Alleles and Clinical Manifestation in Patients with Progressive Ataxia Caused by Trinucleotide Repeat Expansion
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Lee SG, Ki CS, Kim JW, Suh JS
- KMID: 1866523
- Korean J Lab Med.
- 2003 Feb;23(1):60-66.
BACKGROUND: Trinucleotide repeat (TNR) expanded disorders represent a novel class of human mutations, which are characterized by abnormal elongation of the triplet repeat sequence in the human genome and is... -
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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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- Novel compound heterozygous mutations of ATM in ataxia-telangiectasia: A case report and calculated prevalence in the Republic of Korea
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Jang MJ, Lee CG, Kim HJ
- KMID: 2435952
- J Genet Med.
- 2018 Dec;15(2):110-114.
- doi: 10.5734/JGM.2018.15.2.110
Ataxia-telangiectasia (AT; OMIM 208900) is a rare autosomal recessive inherited progressive neurodegenerative disorder, with onset in early childhood. AT is caused by homozygous or compound heterozygous mutations in ATM (OMIM... -
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- Ophthalmologic Findings of Boucher-Neuhauser Syndrome
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Yu SI, Kim JL, Lee SG, Kim HW, Kim SJ
- KMID: 1084216
- Korean J Ophthalmol.
- 2008 Dec;22(4):263-267.
- doi: 10.3341/kjo.2008.22.4.263
To report a case of Boucher-Neuhauser syndrome, which is an autosomal recessive disorder characterized by the triad of spinocerebellar ataxia, chorioretinal dystrophy, and hypogonadotropic hypogonadism. An 18-year-old man was seen... -
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- A Case of Early Onset Cerebellar Ataxia with Retained Tendon Reflexes
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Lee JB, Lee HY, Yang JS, Lim BK
- KMID: 2024068
- J Korean Pediatr Soc.
- 1997 Jan;40(1):129-133.
Early onset cerebellar ataxia with retained tendon reflexes is clinical syndrome characterized by progressive cerebelar ataxia of unknown etiology with an onset within the first two decades. This disorder was... -
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- Early Onset Cerebellar Ataxia with Retained Tendon Reflexes Developed in Brothers: Report of two cases
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Park JM, Park TI, Park RW
- KMID: 2001916
- J Korean Acad Rehabil Med.
- 1997 Apr;21(2):461.
Early onset cerebellar ataxia with retained tendon reflexes is distinctive clinical syndrome characterized by progressive cerebellar ataxia of unknown etiology with an onset within the first two decades. This disorder... -
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- Olivopontocerebellar Atrophy
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Choi IS, Lee MS, Kim WT, Choi KK
- KMID: 1729552
- Yonsei Med J.
- 1988 Sep;29(3):233-238.
- doi: 10.3349/ymj.1988.29.3.233
Between 1985and 1987, 31 patients with sporadic olivopontocerebellar atrophy (SOPCA) and 3 patients with familial olivopontocerebellar atrophy (FOPCA) were examined in the Neurologic Clinic of Yongdong Severance Hospital. The... -
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- A Case of Congenital Binocular Cataracts with Posterior Fossa Cyst Simulating Marinesco-Sjogren Syndrome
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Kang SK, Han SJ, Park Y
- KMID: 2187184
- J Korean Neurosurg Soc.
- 1979 Sep;8(2):555-564.
A case of 10 months old Korean female infant with congenital binocular cataracts, posterior fossa cyst, and macrodactyly simulating Marinesco-Sjogren Syndrome is presented. The diagnosis of the posterior fossa cyst... -
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- Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay
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Bong JB, Kim SW, Lee ST, Choi JR, Shin HY
- KMID: 2449297
- J Korean Neurol Assoc.
- 2019 Feb;37(1):69-72.
- doi: 10.17340/jkna.2019.1.13
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... -
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- Applications of CRISPR/Cas9 for Gene Editing in Hereditary Movement Disorders
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Im W, Moon J, Kim M
- KMID: 2353874
- J Mov Disord.
- 2016 Sep;9(3):136-143.
- doi: 10.14802/jmd.16029
Gene therapy is a potential therapeutic strategy for treating hereditary movement disorders, including hereditary ataxia, dystonia, Huntington's disease, and Parkinson's disease. Genome editing is a type of genetic engineering in... -
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