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 incidence of the disease among our neurology clinic patients was 0.9% and 3.4% of those patients were admitted. Seventeen of them were men and seventeen women, and their ages of onset ranged from 16 to 75 years (mean, 48.2 years). In comparison with SOPCA, the disease began earlier in FOPCA (mean age, 51.0 VS 19.3 years), but there were no other differences in clinical feature of the disease. Four patients had parkinsonism, one dementia, and one ophthalmoplegia. None presented spinal involvement or abnormal movements. Eight had a coexisting disease; 3, ch(03)nic alcoholism; 2, hypertension; 2, diabetes mellitus; and 1, malignant neoplasm.
Adolescent ; Adult ; Aged ; Diagnosis, Differential ; Female ; Human ; Korea ; Male ; Middle Age ; Olivopontocerebellar Atrophies/*diagnosis/epidemiology/genetics ; Spinocerebellar Degenerations/*diagnosis

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 was added by brain computerized tomogram, conray ventriculogram and vertebral angiogram. The studies demonstrated marked hydrocephalus with a huge posterior fossa cyst displacing 4 th ventricle and cerebellum anteriorly. The cyst was also extending upward displacing the tentorium superiorly. Following ventriculoperioneal shunt an exploration of the cyst was performed. The cerebellar hemispheres and vermis were appeared to be atrophic and displaced anteriorly due to the cyst. The histologic study of the biopsied cyst wall was normal arachnoid membrane. The authors assume that some of the reported cases of Marinesco- sjogren Syndrome could have similar cystic lesion which was found in this case to cause cerebellar ataxia and mental retardation.
Arachnoid ; Brain ; Cataract* ; Cerebellar Ataxia ; Cerebellum ; Diagnosis ; Female ; Humans ; Hydrocephalus ; Infant ; Intellectual Disability ; Membranes ; Sjogren's Syndrome ; Spinocerebellar Degenerations* ; Telescopes*

No abstract available.
Aged ; Alcohol-Induced Disorders, Nervous System/etiology/*pathology ; Alcoholism/complications/*pathology ; Cerebellum/*pathology ; Diagnosis, Differential ; Early Diagnosis ; Humans ; Magnetic Resonance Imaging/*methods ; Male ; Reproducibility of Results ; Sensitivity and Specificity ; Spinocerebellar Degenerations/*etiology/*pathology

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 607585) on chromosome 11q22. The average prevalence of the disease is estimated at 1 of 100,000 children worldwide. The prevalence of AT in the Republic of Korea is suggested to be extremely low, with only a few cases genetically confirmed thus far. Herein, we report a 5-year-old Korean boy with clinical features such as progressive gait and truncal ataxia, both ankle spasticity, dysarthria, and mild intellectual disability. The patient was identified as a compound heterozygote with two novel genetic variants: a paternally derived c.5288_5289insGA p.(Tyr1763*) nonsense variant and a maternally derived c.8363A>C p.(His2788Pro) missense variant, as revealed by next-generation sequencing and confirmed by Sanger sequencing. Based on claims data from the Health Insurance Review and Assessment Service Republic of Korea, we calculated the prevalence of AT in the Republic of Korea to be about 0.9 per million individuals, which is similar to the worldwide average. Therefore, we suggest that multi-gene panel sequencing including ATM should be considered early diagnosis.
Ankle ; Ataxia ; Ataxia Telangiectasia* ; Child ; Child, Preschool ; Databases, Genetic ; Dysarthria ; Early Diagnosis ; Gait ; Heterozygote ; High-Throughput Nucleotide Sequencing ; Humans ; Insurance, Health ; Intellectual Disability ; Male ; Muscle Spasticity ; Neurodegenerative Diseases ; Prevalence* ; Republic of Korea* ; Spinocerebellar Degenerations

Since December 2019, a series of highly infectious cases of unexplained pneumonia have been discovered in Wuhan, Hubei Province, which have been confirmed as '2019 corona virus disease' caused by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2). SARS-CoV-2 virus can invade many human systems including the lungs. Patients with central nervous system involvement may show a series of neurological symptoms, which is easy to be misdiagnosed and neglected, thereby increasing the risk of SARS-CoV-2 transmission. Hereditary ataxia is a large group of neurodegenerative diseases with great clinical and genetic heterogeneity and high mortality and disability. In view of the seriousness of the COVID-19 epidemic, a series of prevention and control measures adopted by the government have restricted the follow-up, diagnosis and treatment of patients by the hospitals, which has a great impact on their mental and physical health. In order to standardize the management of patients during the prevention and control of COVID-19 epidemic, the Specialized Committee of Neurogenetics of the Neurophysician Branch of Chinese Medical Doctor Association has formulated this consensus, with an aim to help patients to overcome the difficulties and pass the epidemic prevention period safely.
Betacoronavirus ; China ; epidemiology ; Consensus ; Coronavirus Infections ; complications ; epidemiology ; Epidemics ; Health Status ; Humans ; Mental Health ; Nervous System Diseases ; virology ; Pandemics ; Pneumonia, Viral ; complications ; epidemiology ; Spinocerebellar Degenerations ; complications ; diagnosis ; prevention & control ; therapy

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 for visual problems, which had been diagnosed as retinitis pigmentosa at the age of 12 years. His puberty was delayed. At 16 years of age, the patient experienced progressive deterioration of his balance and gait disturbance. Then he was referred to our clinic because Boucher-Neuhauser syndrome was suspected. He had no specific family history; his visual acuity was 0.04 in both eyes. We observed broad retinal pigment epithelium atrophy and degeneration in both fundi. Both fluorescein and indocyanine green angiography showed choriocapillaris atrophy in the posterior pole area and midperiphery. Macular optical coherence tomography showed thinning of the neurosensory retina. An electroretinographic examination showed no photopic or scotopic responses. The Boucher-Neuhauser syndrome should be included in the differential diagnosis of patients with retinitis pigment epithelium atrophy and degeneration.
Adolescent ; Atrophy ; Cerebellum/pathology ; Coloring Agents/diagnostic use ; Electroretinography ; Fluorescein Angiography ; Humans ; Hypogonadism/*diagnosis/genetics ; Indocyanine Green/diagnostic use ; Magnetic Resonance Imaging ; Male ; Photoreceptor Cells, Vertebrate/physiology ; Retinal Degeneration/*diagnosis/genetics ; Retinal Pigment Epithelium/*pathology ; Retinitis Pigmentosa/*diagnosis/genetics/physiopathology ; Spinocerebellar Degenerations/*diagnosis/genetics ; Syndrome ; Tomography, Optical Coherence