- A Case of MELAS Syndrome Involving Diabetes Mellitus, Cerebellar Ataxia and Progressive Sensorineural Hearing Loss
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Kang SS, Lee WW, Choi JH, Shim HJ
- KMID: 2543073
- Korean J Otorhinolaryngol-Head Neck Surg.
- 2023 Jun;66(6):400-403.
- doi: 10.3342/kjorl-hns.2023.00017
Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome is a maternally inherited mitochondrial disorder. MELAS syndrome manifests different clinical symptoms due to mitochondrial heteroplasmy and individual susceptibility and tends... -
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- Novel Compound Heterozygous Mutations in the SYNE1 Gene in a Taiwanese Family: A Case Report and Literature Review
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Kuo CY, Yu PS, Chao CY, Wang CC, Fan WL, Wu YR
- KMID: 2542425
- J Mov Disord.
- 2023 May;16(2):202-206.
- doi: 10.14802/jmd.22105
Mutations in the synaptic nuclear envelope protein 1 (SYNE1) gene are associated with substantial clinical heterogeneity. Here, we report the first case of SYNE1 ataxia in Taiwan due to two... -
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- Validity and Reliability of the Korean-Translated Version of the International Cooperative Ataxia Rating Scale in Cerebellar Ataxia
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Park J, Cho JW, Youn J, Oh E, Jang W, Kim JS, Oh YS, Hwang H, Ryu CH, Ahn JY, Lee JY, Koh SB, Park JH, Kim HT
- KMID: 2539025
- J Mov Disord.
- 2023 Jan;16(1):86-90.
- doi: 10.14802/jmd.22137
Objective The International Cooperative Ataxia Rating Scale (ICARS) is a semiquantitative clinical scale for ataxia that is widely used in numerous countries. The purpose of this study was to investigate... -
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- Treatable Ataxias: How to Find the Needle in the Haystack?
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Stezin A, Pal PK
- KMID: 2533685
- J Mov Disord.
- 2022 Sep;15(3):206-226.
- doi: 10.14802/jmd.22069
Treatable ataxias are a group of ataxic disorders with specific treatments. These disorders include genetic and metabolic disorders, immune-mediated ataxic disorders, and ataxic disorders associated with infectious and parainfectious etiology,... -
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- Autoantibody Encephalitis: Presentation, Diagnosis, and Management
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Lancaster E
- KMID: 2530840
- J Clin Neurol.
- 2022 Jul;18(4):373-390.
- doi: 10.3988/jcn.2022.18.4.373
Autoantibody encephalitis causes distinct clinical syndromes involving alterations in mentation, abnormal movements, seizures, psychiatric symptoms, sleep disruption, spasms, and neuromyotonia. The diagnoses can be confirmed by specific antibody tests, although... -
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- Two Korean siblings with autosomal recessive spinocerebellar ataxia 20 caused by homozygous variants in SNX14
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Kim AR, Lee JM, Seo GH, Lee SI, Bae H, Lee YJ
- KMID: 2524739
- J Genet Med.
- 2021 Dec;18(2):127-131.
- doi: 10.5734/JGM.2021.18.2.127
Autosomal recessive spinocerebellar ataxia 20 (SCAR20; OMIM #616354) is a recently described disorder that is characterized by ataxia, intellectual disability, cerebellar atrophy, macrocephaly, coarse face, and absent speech. It is... -
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- Versatile Role of 18 F-FDG PET/CT in a Patient with Pan-cerebellar Paraneoplastic Manifestation Due to Underlying Hodgkin’s Lymphoma
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Aggarwal P, Kavanal A, Singh H, Kumar R, Ranjan R, Baishya J, Bhattacharya A
- KMID: 2523590
- Nucl Med Mol Imaging.
- 2021 Dec;55(6):311-314.
- doi: 10.1007/s13139-021-00720-8
Hodgkin’s lymphoma most commonly presents as painless lymphadenopathy and systemic B symptoms like fever, night sweats, and weight loss. But rarely, it can present with unusual paraneoplastic manifestations. In the... -
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- Steroid-Responsive Encephalopathy Associated with Autoimmune Thyroiditis (SREAT) Mimicking Pure Cerebellar Ataxia
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Kim YE, Eom HJ, Kim HK, Kim JH
- KMID: 2521876
- J Korean Neurol Assoc.
- 2021 Nov;39(4):379-381.
- doi: 10.17340/jkna.2021.4.23
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- Lambert-Eaton Myasthenic Syndrome Presenting as Cerebellar Symptoms
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Song S, Cho J, Jeong SH
- KMID: 2518947
- J Korean Neurol Assoc.
- 2021 Aug;39(3):222-224.
- doi: 10.17340/jkna.2021.3.21
A 79-year-old man visited neurology clinic due to gait ataxia and vertigo for 10 months. Neurologic examination revealed saccadic pursuit, mild dysmetria, impaired tandem gait, and areflexia that recovers after... -
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- Clinical Characteristics and Effects of Steroid Therapy in Children with Acute Cerebellar Ataxia
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Lee JY, Moon JU, Yoon DH, Han JY, Lee IG
- KMID: 2517089
- Ann Child Neurol.
- 2021 Jul;29(3):109-114.
- doi: 10.26815/acn.2021.00010
Purpose: Acute cerebellar ataxia (ACA) is characterized by unsteady gait and instability of the trunk, and is caused by secondary autoimmune responses to infection or vaccination in healthy children. Although... -
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- Extracerebellar Signs and Symptoms in 117 Korean Patients with Early-Stage Spinocerebellar Ataxia
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Kim M, Ahn JH, Mun JK, Choi EH, Kim JS, Youn J, Cho JW
- KMID: 2514570
- J Clin Neurol.
- 2021 Apr;17(2):242-248.
- doi: 10.3988/jcn.2021.17.2.242
Background and Purpose Spinocerebellar ataxias (SCAs) are the most common form of hereditary ataxias. Extracerebellar signs have been well described and are helpful in differentiating the SCA subtypes. However, there... -
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- Clinical, Imaging, and Laboratory Markers of Premanifest Spinocerebellar Ataxia 1, 2, 3, and 6: A Systematic Review
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Kim DH, Kim R, Lee JY, Lee KM
- KMID: 2514563
- J Clin Neurol.
- 2021 Apr;17(2):187-199.
- doi: 10.3988/jcn.2021.17.2.187
Background and Purpose Premanifest mutation carriers with spinocerebellar ataxia (SCA) can exhibit subtle abnormalities before developing ataxia. We summarized the preataxic manifestations of SCA1, -2, -3, and -6, and their... -
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- A Case of Spinocerebellar Ataxia Type 28
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Choi JH, Oh EH, Choi SY, Choi KD
- KMID: 2514001
- Res Vestib Sci.
- 2021 Mar;20(1):33-36.
- doi: 10.21790/rvs.2021.20.1.33
Spinocerebellar ataxia type 28 (SCA 28) is characterized by young-adult onset, very slowly progressive gait and limb ataxia, dysarthria, nystagmus, ptosis, and ophthalmoplegia. It is caused by a heterozygous pathogenic... -
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- Immune-Mediated Cerebellar Ataxias: Clinical Diagnosis and Treatment Based on Immunological and Physiological Mechanisms
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Mitoma H, Manto M, Hadjivassiliou M
- KMID: 2511484
- J Mov Disord.
- 2021 Jan;14(1):10-28.
- doi: 10.14802/jmd.20040
Since the first description of immune-mediated cerebellar ataxias (IMCAs) by Charcot in 1868, several milestones have been reached in our understanding of this group of neurological disorders. IMCAs have diverse... -
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- New Nonsense Variant c.2983G>T; p.Glu995* in the CACNA1A Gene Causes Progressive Autosomal Dominant Ataxia
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Saathoff Y, Biskup S, Funke C, Roth C
- KMID: 2511491
- J Mov Disord.
- 2021 Jan;14(1):70-74.
- doi: 10.14802/jmd.20082
The genetic testing of hereditary ataxias includes screening for CAG-repeat expansions as well as pathogenic variants and nontranslated oligonucleotide expansion, which can cause spinocerebellar ataxia (SCA). Genotype-phenotype correlations of several... -
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- Preliminary Clinical Trial of Balance Compensation System for Improvement of Balance in Patients With Spinocerebellar Ataxia
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Hong JS, Kim JH, Yong SY, Lee YH, Kim SH, Park JY, Lee JK, Jang JY
- KMID: 2505388
- Ann Rehabil Med.
- 2020 Aug;44(4):284-291.
- doi: 10.5535/arm.19165
Objective To determine the immediate and short-term impact of the application of wearable balance compensation system (BCS) on balance impairment in patients with spinocerebellar ataxia (SCA). Methods The study enrolled 6... -
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- Functional Improvement after Taking Rehabilitation Program in Cerebellar Ataxia in a Patient with Systemic Lupus Erythematosus: a Case Report
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Cha JM, Kim HS
- KMID: 2504417
- Brain Neurorehabil.
- 2020 Jul;13(2):.
- doi: 10.12786/bn.2020.13.e11
Cerebellar involvement in systemic lupus erythematosus (SLE) is rare, occurring in less than 2% of cases, with cerebellar atrophy on brain imaging even rarer. We describe a case of cerebellar... -
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- A Case of Idiopathic Infratentorial Superficial Siderosis
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Shin Du, Yang SY, Kim Yw, Ryu HS, Lee H
- KMID: 2508218
- Investig Magn Reson Imaging.
- 2020 Mar;24(1):51-54.
- doi: 10.13104/imri.2020.24.1.51
Superficial siderosis is attributed to hemosiderin deposition in the subpial layers of the nervous system. The clinical features of infratentorial superficial siderosis (ISS) are hearing loss, cerebellar ataxia, and corticospinal... -
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- Chromosomal Deletion in 7q31.2-31.32 Involving Ca2âº-Dependent Activator Protein for Secretion Gene in a Patient with Cerebellar Ataxia: a Case Report
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Hong S, Lee SJ, Cho SR
- KMID: 2469629
- Brain Neurorehabil.
- 2020 Mar;13(1):e9.
- doi: 10.12786/bn.2020.13.e9
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 Ca2âº-dependent... -
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- A Patient with Spinocerebellar Ataxia 2 Presenting with Multiple System Atrophy
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Kim YS, Lee S, Shin HW
- KMID: 2501741
- J Korean Neurol Assoc.
- 2020 Feb;38(1):33-36.
- doi: 10.17340/jkna.2020.1.6
Spinocerebellar ataxia type-2 (SCA2) is an autosomal dominant cerebellar ataxia that occurs due to expanded CAG trinucleotide repeats in the ATXN2 gene. Clinical features of parkinsonism in SCA2 vary from... -
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