No abstract available.
Olivopontocerebellar Atrophies*

Acupuncture Therapy ; Aged ; Female ; Humans ; Olivopontocerebellar Atrophies ; therapy

Adult ; Female ; Humans ; Male ; Olivopontocerebellar Atrophies ; genetics ; Pedigree ; Young Adult

Autosomal dominant cerebellar ataxia(ADCA) is an unusual, familial hereditary disorder that ha been called olivopontocerebellar atrophy. ADCA type II is usually accompanied with severely decreased visual acuity and cerebellar ataxia. We experienced a 39 year-old female with ADCA type II who had the severely decreased visual acuity and progressive familial cerebellar ataxia. The diagnosis for ADCA type II was made through several ophthalmic examinations. brain magnetic resonance imaging, and chromosomal study. When ophthalmologists encounter a patient with decreased visual acuity and cerebellar ataxia, this disorder should not be overlooked. We report this unusual case with literature review.
Adult ; Brain ; Cerebellar Ataxia* ; Diagnosis ; Female ; Humans ; Magnetic Resonance Imaging ; Olivopontocerebellar Atrophies ; Optic Atrophy* ; Visual Acuity

BACKGROUND: Ocular flutter is a rare horizontal eye movement disorder characterized by rapid saccadic oscillations. Excessive discharge of burst neurons, and/or loss of tonic excitation of pause cells cause ocular flutter in several neurologic diseases. Ocular flutter can be easily differentiated from other saccadic oscillations with the aid of electro-oculography (EOG) findings showing an absence of intersaccadic intervals. METHODS: We analyzed EOG findings of ocular flutter in four patients. RESULTS: Ocular flutter, which was shown as rapid, repetitive, horizontal, symmetrical, and sinusoidal movements without intersaccadic intervals on EOG, was confirmed in four patients. The etiology of each patient was olivopontocerebellar atrophy (1 case), meningoencephalitis (2 cases), and lithium intoxication (1 case). CONCLUSIONS: Ocular flutter can be present in numerous neurologic diseases. Characteristic EOG findings are useful in the diagnosis of ocular flutter.
Diagnosis ; Electrooculography ; Humans ; Lithium ; Meningoencephalitis ; Neurons ; Ocular Motility Disorders ; Olivopontocerebellar Atrophies ; Saccades

We report a case of spontaneous intracranial epidural hematoma following the intraoperative course of a patient who had undergone surgical removal of a thoracolumbar schwannoma in olivo-ponto-cerebellar atrophy. To our knowledge there is no reported case in which the thoracolumbar schwannoma removal was followed by such a complication. Mechanical events leading to this complication are unclear. Abnormal results of a neurological examination in the early postoperative period should suggest this possibility.
Hematoma, Epidural, Cranial* ; Humans ; Neurilemmoma* ; Neurologic Examination ; Olivopontocerebellar Atrophies ; Postoperative Period

OBJECTIVE: To explore the genetic basis for a fetus with cerebellar dysplasia and widened lateral ventricles. METHODS: The couple have elected induced abortion after careful counseling. Skin tissue sample from the abortus and peripheral venous blood samples from both parents were collected for the extraction of genomic DNA, which was then subjected to whole exome sequencing. Candidate variant was verified by Sanger sequencing. RESULTS: Prenatal ultrasonography showed increased nuchal translucency (0.4 cm) and widened lateral ventricles. Magnetic resonance imaging revealed infratentorial brain dysplasia. By DNA sequencing, the fetus was found to carry compound heterozygous variants c.1A>G and c.1564G>A of the RARS2 gene, which were inherited from its father and mother, respectively. Among these, c.1A>G was known to be pathogenic, but the pathogenicity of c.1564G>A was unreported previously. Based on the American College of Medical Genetics and Genomics guidelines, the c.1564G>A variant of RARS2 gene was predicted to be likely pathogenic(PM2+PM3+PP3+PP4). CONCLUSION The compound heterozygous variants c.1A>G and c.1564G>A of RARS2 gene contributed to the fetus suffering from pontocerebellar hypoplasia type 6, which expanded variant spectrum of RARS2 gene.
Female ; Fetus ; Genomics ; Humans ; Mutation ; Olivopontocerebellar Atrophies ; Pregnancy ; Whole Exome Sequencing

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

Olivopontocerebellar atrophy (OPCA) is a form of degenerative disease associated with neuronal degeneration in the cerebellar cortex, pons, and inferior olives. The authors have reviewed 38 cases, clinically diagnosed as OPCA, admitted in department of neurology, Seoul National University Hospital From January, 1985 to August, 1989. Seven cases of familial and 31 cases of sporadic forms have been gathered. Gait ataxia and dizziness are the most frequent initial manifestations and the cerebellar ataxia and pyramidal tract signs are frequent neurologic findings in both familial and sporadic forms. Age of onset is earlier in the familial form (mean 31.4y) than in the sporadic form (mean 47.5y). The duration of the disease is longer in the former(6.8y) than in the latter (2.9y). Abnormal ocular movement and nystagmus are more frequent in the familial form, while autonomic changes and parkinsonian features in the sporadic form.
Age of Onset ; Cerebellar Ataxia ; Cerebellar Cortex ; Dizziness ; Gait Ataxia ; Neurologic Manifestations ; Neurology ; Neurons ; Olea ; Olivopontocerebellar Atrophies* ; Pons ; Pyramidal Tracts ; Seoul

PURPOSE: To demonstrate the MRI findings of olivopontocerebellar atrophy. MATERIALS AND METHODS: We retrospectively reviewed the MRI findings of eight patients who had been diagnosed by clinical manifestation and the peculiar pattern of atrophy and signal change on MRI. RESULTS: Seven patients had an atrophy of the olive, pons and cerebellum and increased signal change of the transverse pontine fiber, median raphe and middle cerebellar peduncle on T2WI. Of these, six patients had severe atrophy of the olive, pons and cerebellum and decreased signal change of the basal ganglia, red nucleus, substantia nigra or dentate nucleus on T2WI. Additionally, four of six patients had a cerebral atrophy. Except one patient who had an urinary incontinence, these 5 patients had not been associated with extrapyramidal or autonomic symptom. The other patient with relatively short duration of the disease had only cerebellar atrophy without signal change on T2WI . CONCLUSION: With progressing of the olivopontocerebellar atrophy, cerebral atrophy and decreased signal change of the basal ganglia, red nucleus, substantia nigra or dentate nucleus on T2WI is combined. Thus, MRI is essential in establishing the diagnosis and evaluating the severity of olivopontocerebellar atrophy.
Atrophy ; Basal Ganglia ; Brain* ; Cerebellar Nuclei ; Cerebellum ; Diagnosis ; Humans ; Magnetic Resonance Imaging* ; Olea ; Olivopontocerebellar Atrophies* ; Pons ; Red Nucleus ; Retrospective Studies ; Substantia Nigra ; Urinary Incontinence