1.The clinical features - histopathology of the cutaneous spino cellular epithelioma
Journal of Practical Medicine 2002;435(11):10-12
A study on 109 patients with the spinocellular epithelioma of skin in the Hospital K during 1992-1996 was carried out. The results have shown that the spinocellular epithelioma was most common disease among non-melanin skin cancer (38.38%) was increasingly every year. The morbidity rate was increased as increased ages, highest in the ages of 60-69. The patients usually admitted lately to hospital in phases of T3 and T4, with high rate of unique one time relapse in the postoperative first year. Almost cases in grade I, II and III.
Carcinoma
;
Spinocerebellar Degenerations
2.A Case of Marinesco-Sjogren Syndrome with Brainstem Hypotrophy and Hyperthyroidism.
Whan Suk PARK ; Woo Youl KANG ; Yang Ki MINN ; Ki Han KWON
Journal of the Korean Neurological Association 2003;21(4):442-444
No abstract available.
Brain Stem*
;
Hyperthyroidism*
;
Spinocerebellar Degenerations*
3.Dentatorubropallidoluysian Atrophy (DRPLA) With Comitant Esotropia.
Jae Kook YOO ; Yong Seo KOO ; Do Young KWON ; Moon Ho PARK ; Kun Woo PARK
Journal of the Korean Neurological Association 2009;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 with other degenerative cerebellar ataxia disorders. We report on a 28-year-old woman with ataxia in whom a detailed ophthalmologic examination revealed concomitant esotropia. She was subsequently diagnosed with dentatorubropallidoluysian atrophy (DRPLA). We suggest that the presence of concomitant esotropia could be used to differentiate DRPLA from other hereditary ataxias.
Adult
;
Ataxia
;
Atrophy
;
Cerebellar Ataxia
;
Esotropia
;
Female
;
Humans
;
Spinocerebellar Ataxias
;
Spinocerebellar Degenerations
4.A Case of Dentatorubropallidoluysian Atrophy with Corneal Endothelial Degeneration.
Jae Hyeok LEE ; Hwan JOO ; Kyung Pil PARK ; Dae Seong KIM ; Kyu Hyun PARK ; Dae Soo JUNG
Journal of the Korean Neurological Association 2003;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 cerebellar ataxia, myoclonic seizure, dystonia, chorea, mental retardation, and visual disturbance. Detailed ophthalmologic examination showed marked reduction of the corneal endothelial cell density. Genetic analysis revealed the presence of a pathological CAG expansion within the DRPLA gene. We suggest that corneal endothelial degeneration might be one of the signs differentiating DRPLA from other hereditary ataxias.
Adult
;
Atrophy*
;
Cerebellar Ataxia
;
Chorea
;
Dystonia
;
Endothelial Cells
;
Humans
;
Intellectual Disability
;
Seizures
;
Spinocerebellar Ataxias
;
Spinocerebellar Degenerations
5.A Case of Dentatorubropallidoluysian Atrophy with Corneal Endothelial Degeneration.
Jae Hyeok LEE ; Hwan JOO ; Kyung Pil PARK ; Dae Seong KIM ; Kyu Hyun PARK ; Dae Soo JUNG
Journal of the Korean Neurological Association 2003;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 cerebellar ataxia, myoclonic seizure, dystonia, chorea, mental retardation, and visual disturbance. Detailed ophthalmologic examination showed marked reduction of the corneal endothelial cell density. Genetic analysis revealed the presence of a pathological CAG expansion within the DRPLA gene. We suggest that corneal endothelial degeneration might be one of the signs differentiating DRPLA from other hereditary ataxias.
Adult
;
Atrophy*
;
Cerebellar Ataxia
;
Chorea
;
Dystonia
;
Endothelial Cells
;
Humans
;
Intellectual Disability
;
Seizures
;
Spinocerebellar Ataxias
;
Spinocerebellar Degenerations
6.Diagnosis of a patient with Spinocerebellar ataxia type 29 due to a novel variant of ITPR1 gene.
Ya Nan ZHI ; Jiao LIU ; Cheng ZHEN ; Juan LI ; Fangna WANG ; Yan LUO ; Pingping ZHANG ; Mingming ZHANG ; Yali LI
Chinese Journal of Medical Genetics 2023;40(1):76-80
OBJECTIVE:
To explore the clinical and genetic characteristics of a child with spinocerebellar ataxia type 29 (SCA29) due to novel variant of the inositol 1,4,5-trisphosphate receptor type 1 (ITPR1) gene.
METHODS:
The child was subjected high-throughput sequencing, and candidate variant was verified by Sanger sequencing of his family members.
RESULTS:
The child was found to harbor a c.800C>T (p.T267M) variant of the ITPR1 gene, which was not found in his parents and their fetus. The variant has occurred in a hotspot of the ITPR1 gene variants and was unreported before in China. Based on his clinical and genetic characteristics, the child was diagnosed with SCA29.
CONCLUSION
The novel heterozygous c.800C>T (p.T267M) of the ITPR1 gene probably underlay the SCA29 in this child.
Child
;
Humans
;
Family
;
Inositol 1,4,5-Trisphosphate Receptors/genetics*
;
Mutation
;
Spinocerebellar Ataxias/genetics*
;
Spinocerebellar Degenerations
7.Spinocerebellar Ataxia Type 6 in Two Korean Families.
Seong Ho KOH ; Hak Jae NOH ; Seung Hyun KIM ; Hee Tae KIM ; Dong Jin SHIN ; Myung Kwon KIM ; Sung Sup PARK ; Ji Yeon KIM ; Beom S JEON
Journal of the Korean Neurological Association 2000;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 gene. In this study, we report the clinical and molecular genetic characteristics of SCA6 in 2 Korean families. We further describe that SCA6 and Episodic ataxia type 2 are simultaneously developed in same family showing no intergenerational changes of CAG repeat numbers. METHODS: Seventeen members of one family and nine of the other received detailed neurological examination and history taking at least one occasion. After the screening test, molecular diagnostic test by using Zhuchenko's method were performed in 13 patients in one family and 3 in the other, respectively. RESULTS: Normal range of CAG repeat in 92 normal individuals was 8 to 17. In this study, the numbers of CAG repeat in one family was 26 and in another was 23. There were no intergenerational differences in the numbers of CAG repeat. Despite the same number of CAG repeat, the clinical anticipation were found. Only one showed episodic ataxia clinically. CONCLUSIONS: Comparing with other types of SCA, the SCA6 had several remarkable characteristics: 1) very small CAG expansions (21-27 repeats) lead to clinical symptoms and the repeat numbers are relatively stable, 2) clinical anticipation is observed despite the relatively stable repeat on intergenerational transmission. The finidngs that an EA2 and a SCA6 exist in a same family may be suggest that two disease are the same disorder with a high phenotypic variablity.
Ataxia
;
Calcium Channels
;
Humans
;
Mass Screening
;
Molecular Biology
;
Neurologic Examination
;
Pathology, Molecular
;
Reference Values
;
Spinocerebellar Ataxias*
;
Spinocerebellar Degenerations
8.Successful Treatment with Olanzapine of Psychosis in Dentatorubral-pallidoluysian Atrophy: A Case Report.
Clinical Psychopharmacology and Neuroscience 2018;16(2):221-223
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 second generation antipsychotics. We report on a 44-year-old man with dentatorubral-pallidoluysian atrophy whose psychotic symptoms were effectively treated with olanzapine. Our observation suggests some second generation antipsychotics provide a therapeutic option for ameliorating psychosis in dentatorubral-pallidoluysian atrophy.
Adult
;
Antipsychotic Agents
;
Humans
;
Myoclonic Epilepsies, Progressive*
;
Psychotic Disorders*
;
Spinocerebellar Degenerations
9.Early Onset Cerebellar Ataxia with Retained Tendon Reflexes Developed in Brothers: Report of two cases.
Jeong Mee PARK ; Tae Il PARK ; Roh Wook PARK
Journal of the Korean Academy of Rehabilitation Medicine 1997;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 was distinguished from Friedreich's ataxia by the preservation of the deep tendon reflexes. There is 22-year-old male with 13 year history of slowly progressive cerebellar ataxia and dysarthria. His elder brother, also, has milder clinical manifestations, electrophysiological and radiological abnormalities. We experienced two cases of early onset cerebellar ataxia with retained tendon reflexes developed in brothers which was diagnosed by clinical manifestations, electrophysiologic, radiologic studies and report with brief review of related literatures.
Cerebellar Ataxia
;
Dysarthria
;
Friedreich Ataxia
;
Humans
;
Male
;
Reflex, Stretch*
;
Siblings*
;
Spinocerebellar Degenerations*
;
Tendons*
;
Young Adult
10.Non-Ataxic Phenotypes of SCA8 Mimicking Amyotrophic Lateral Sclerosis and Parkinson Disease.
Ji Sun KIM ; Tae Ok SON ; Jinyoung YOUN ; Chang Seok KI ; Jin Whan CHO
Journal of Clinical Neurology 2013;9(4):274-279
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 when compared to the other types of SCAs and its spectrum is not well established. CASE REPORT: Two newly detected cases of SCA8 with the nonataxic phenotype and unusual clinical manifestations such as dopaminergic-treatment-responsive parkinsonism and amyotrophic lateral sclerosis (ALS) are described herein. Family A expressed good dopaminergic treatment-responsive parkinsonism as an initial manifestation and developed mild cerebellar ataxia with additional movements, including dystonic gait and unusual oscillatory movement of the trunk, during the disease course. The proband of family B presented as probable ALS with cerebellar atrophy on brain MRI, with a positive family history (a brother with typical cerebellar ataxia) and genetic confirmation for SCA8. CONCLUSIONS: Our findings support that the non-ataxic phenotypes could be caused by a mutation of the SCA8 locus which might affect neurons other than the cerebellum.
Amyotrophic Lateral Sclerosis*
;
Atrophy
;
Brain
;
Cerebellar Ataxia
;
Cerebellum
;
Gait
;
Humans
;
Neurodegenerative Diseases
;
Neurons
;
Parkinson Disease*
;
Parkinsonian Disorders
;
Phenotype*
;
Siblings
;
Spinocerebellar Ataxias
;
Spinocerebellar Degenerations
;
Trinucleotide Repeats