Clinical Features of Genetic Creutzfeldt-Jakob Disease with E200K Mutation

Although genetic Creutzfeldt-Jakob disease (CJD) is a rare neurodegenerative disorder, cases of genetic CJD with E200K mutation are being increasingly reported in Korea. However, the clinical features and course of genetic CJD with E200K mutation in Korea remain unclear. We describe the clinical features and course of genetic CJD with E200K mutation in a patient who initially presented with rapid progressive memory impairment and myoclonus.

Clinical Features of Genetic Creutzfeldt-Jakob Disease with E200K Mutation

Although genetic Creutzfeldt-Jakob disease (CJD) is a rare neurodegenerative disorder, cases of genetic CJD with E200K mutation are being increasingly reported in Korea. However, the clinical features and course of genetic CJD with E200K mutation in Korea remain unclear. We describe the clinical features and course of genetic CJD with E200K mutation in a patient who initially presented with rapid progressive memory impairment and myoclonus.

Late-Onset Wilson’s Disease Mimics Hashimoto Encephalopathy

A 48-year-old woman presented with a 1-day history of aggressive behavior. Hashimoto encephalopathy was first suspected based on elevated levels of serum anti-thyroid peroxidase antibody. Her clinical symptoms did not improve despite treatment with intravenous corticosteroid. Abdominal computed tomography revealed liver cirrhosis, and brain T2-weighted magnetic resonance imaging revealed midbrain hyperintensity, and she was finally diagnosed with Wilson’s disease. The Wilson’s disease should be considered in the differential diagnosis in adults presenting with unexplained hepatic, neurological, or psychiatric abnormalities.

Quantification of Rapid Eye Movement Sleep without Atonia to Diagnose Rapid Eye Movement Sleep Behavior Disorder: A Retrospective and Case-Control Study

Objectives@#Rapid eye movement (REM) sleep without atonia (RSWA) fulfils one of the criteria for diagnosing REM sleep behavior disorder (RBD) according to the International Classification of Sleep Disorders, Third Edition. However, RSWA quantification is an unresolved issue, which is associated with the future direction of revising the diagnostic criteria. The purpose of this study was to evaluate the quantification of RSWA in patients with RBD and identify an optimal cut-off value of quantitative RSWA for RBD diagnosis. @*Methods@#Medical records and polysomnographic results were analyzed retrospectively to diagnose sleep disorders from June 2017 to May 2018 at Pusan National University Hospital. Nineteen subjects with idiopathic RBD were included in the present study. Propensity score matching was used to control age, gender, and anti-depressant factors, which influenced RSWA. RSWA was scored according to the American Academy of Sleep Medicine scoring manual. Cohen’s kappa coefficient was measured to test inter-rater reliability between two polysomnography raters. @*Results@#Cohen’s kappa coefficients were 0.755 (p<0.001) and 0.689 (p<0.001) for tonic and phasic activities, respectively. RSWA was significantly increased in subjects with RBD compared with controls [median and interquartile range: 16.5 (8.8–24.6) vs. 6.3 (4.1–7.2) p=0.001]. The optimal cut-off value was 8.0% for the proportion of RSWA (sensitivity 78.5%, specificity 85.7%, area under the receiver-operating characteristic curve 0.837). @*Conclusions@#Subjects with RBD had significantly increased RSWA compared to controls. The proportion of RSWA during REM sleep can be applied to discriminate subjects with RBD from controls.

Hypertensive Encephalopathy with Multiple Lacunar Infarcts and Microbleeds

No abstract available.

Erratum: Comparison of Health Related Quality of Life between Type I and Type II Narcolepsy Patients

No abstract available.

Thyroid Autoantibody Positive Anti-N-Methyl-D-Aspartate Receptor Encephalitis

BACKGROUND: Hashimoto's encephalopathy (HE) and anti N-methyl-D-aspartate receptor (NMDAR) encephalitis have clinical overlaps. CASE REPORT: A 70-year-old woman presented with acutely developed confusion, disorientations and psychosis. HE was suspected based on goiter, markedly elevated anti-thyroglobulin and anti-thyroid peroxidase antibody. She was placed on high dose steroid and intravenous immunoglobulins administration, which did not ameliorate her symptoms. After the antibodies to the NMDAR were identified, weekly 500 mg of rituximab with 4 cycles were started. The current followed up indicated a complete recovery. CONCLUSIONS: The possible associations between NMDAR antibody and autoimmune thyroid antibodies in anti-NMDAR encephalitis with positive thyroid autoantibodies remain unclear. However, a trend toward a higher incidence of NMDAR antibody in patients with autoimmune thyroid antibodies than without has been observed. Cases of encephalitis with only NMDAR antibody (pure anti-NMDAR encephalitis) also occur. Therefore, it is important for clinicians to know the clinical and pathogenic differences between anti-NMDAR encephalitis with positive thyroid autoantibody and pure anti-NMDAR encephalitis for relevant treatment, predicting prognosis, and future follow-up.

Comparison of Health Related Quality of Life between Type I and Type II Narcolepsy Patients

OBJECTIVES: Narcolepsy with cataplexy is a rare chronic sleep disorder characterized by excessive daytime sleepiness, cataplexy, sleep paralysis, and hypnagogic/hypnopompic hallucinations. The aims of the present study were comparing the health-related quality of life (HR-QOL) of patients with type I and type II narcolepy patients, and determining the factors that influence the HR-QOL in narcolepsy patients. METHODS: All patients performed night polysomnography (PSG) and multiple sleep latency test (MSLT). HR-QOL and the severity of subjective symptoms were evaluated using various questionnaires, including the Korean versions of the Medical Outcome Study Short Form-36, the Pittsburg Sleep Quality Index-Korean version, the Korean version Epworth Sleepiness Scale, and the Korean version Beck Depression Inventory-2. RESULTS: We enrolled 21 type I narcolepsy patients and 27 type II patients. Type I patients had short rapid eye movement (REM) latency on night PSG and more sleep onset REM periods on MSLT. The total score of HR-QOL was worse in patients with type I narcolepsy than in the type II narcolepsy patients. There was association between the severities of excessive daytime sleepiness, depression and the degree of worsening of QOL. CSF hypocretin level had no correlation with the scores of HR-QOL. CONCLUSIONS: These findings demonstrate that type I narcolepsy patients are sleepier, depressive, and have more burden on the HR-QOL. And the impairment in QOL of narcolepsy patients is related to the degree of excessive daytime and depressive mood.

Anaplastic Astrocytoma Mimicking Herpes Simplex Encephalitis

No abstract available.

Susceptibility-Weighted Imaging for Detection of Thrombus in Acute Cardioembolic Stroke / 대한뇌졸중학회지

BACKGROUND AND PURPOSE: Susceptibility-weighted imaging (SWI) can show an intravascular thrombus as a hypointense susceptibility vessel sign (SVS). In this study, we investigated the usefulness of SWI in the detection of an intravascular thrombus in acute cardioembolic stroke by comparing the SVS on SWI to the vessel status on time-of-flight magnetic resonance angiography (MRA). METHODS: We consecutively enrolled patients with cardioembolic stroke in the anterior circulation within 3 days from stroke onset. The frequency and location of the SVS on SWI were compared with those of occlusion on MRA. RESULTS: One hundred and twenty-two patients were conclusively enrolled in this study. The SVS was observed in 75.4% (92/122) of the enrolled patients. MRA showed occlusion in 57% (70/122) of the enrolled patients. The SVS was identified in all 70 patients with occlusion on MRA. The SVS was observed in 22 (42.3%) of 52 patients without occlusion on MRA (P<0.001), which was identified mainly in post-bifurcation segments of the middle cerebral artery: the M2 segment in 4 patients, M3 segment in 10 patients, M4 segment in 4 patients, A3 segment in 1 patient, and multiple segments in 2 patients. The mean length of the SVS in the M1 segment was 13.65 mm (median: 12.39 mm, length range: 2.70-39.50 mm). CONCLUSIONS: SWI can provide useful information about the thrombus location, the presence of a single thrombus or multiple thrombi especially in distal intracranial arteries, and the thrombus burden, all in acute cardioembolic stroke.

Susceptibility-Weighted Imaging for Detection of Thrombus in Acute Cardioembolic Stroke / 대한뇌졸중학회지

BACKGROUND AND PURPOSE: Susceptibility-weighted imaging (SWI) can show an intravascular thrombus as a hypointense susceptibility vessel sign (SVS). In this study, we investigated the usefulness of SWI in the detection of an intravascular thrombus in acute cardioembolic stroke by comparing the SVS on SWI to the vessel status on time-of-flight magnetic resonance angiography (MRA). METHODS: We consecutively enrolled patients with cardioembolic stroke in the anterior circulation within 3 days from stroke onset. The frequency and location of the SVS on SWI were compared with those of occlusion on MRA. RESULTS: One hundred and twenty-two patients were conclusively enrolled in this study. The SVS was observed in 75.4% (92/122) of the enrolled patients. MRA showed occlusion in 57% (70/122) of the enrolled patients. The SVS was identified in all 70 patients with occlusion on MRA. The SVS was observed in 22 (42.3%) of 52 patients without occlusion on MRA (P<0.001), which was identified mainly in post-bifurcation segments of the middle cerebral artery: the M2 segment in 4 patients, M3 segment in 10 patients, M4 segment in 4 patients, A3 segment in 1 patient, and multiple segments in 2 patients. The mean length of the SVS in the M1 segment was 13.65 mm (median: 12.39 mm, length range: 2.70-39.50 mm). CONCLUSIONS: SWI can provide useful information about the thrombus location, the presence of a single thrombus or multiple thrombi especially in distal intracranial arteries, and the thrombus burden, all in acute cardioembolic stroke.

Mild Clinical Features and Histopathologically Atypical Cores in Two Korean Families with Central Core Disease Harboring RYR1 Mutations at the C-Terminal Region

BACKGROUND: Central core disease (CCD) is a congenital myopathy characterized by distinctive cores in muscle fibers. Mutations in the gene encoding ryanodine receptor 1 (RYR1) have been identified in most CCD patients. CASE REPORT: Two unrelated patients presented with slowly progressive or nonprogressive proximal muscle weakness since childhood. Their family history revealed some members with the same clinical problem. Histological analysis of muscle biopsy samples revealed numerous peripheral cores in the muscle fibers. RYR1 sequence analysis disclosed a novel mutation in exon 101 (c.14590T>C) and confirmed a previously reported mutation in exon 102 (c.14678G>A). CONCLUSIONS: We report herein two families with CCD in whom missense mutations at the C-terminal of RYR1 were identified. Although it has been accepted that such mutations are usually associated with a severe clinical phenotype and clearly demarcated central cores, our patients exhibited a mild clinical phenotype without facial muscle involvement and skeletal deformities, and atypical cores in their muscle biopsy specimens.

An Autopsy Confirmed Case of Behavioral Variant Frontotemporal Dementia with Corticobasal Degeneration Pathology

A 63-year-old man presented with a 1.5-year history of progressive personality changes. Clinical evaluations revealed severe frontal dysfunction and bilateral frontal atrophy/glucose hypometabolism. He was diagnosed as probable behavioral variant frontotemporal dementia. He continued to decline, and died at the age of 66. At autopsy, numerous tau-positive gilial threads and coiled bodies were observed in the white matter. Tau-positive astrocytic plaques and neuronal cytoplasmic inclusions were also seen in cerebral cortices, which were compatible with corticobasal degeneration.

An Autopsy Confirmed Case of Behavioral Variant Frontotemporal Dementia with Corticobasal Degeneration Pathology

A 63-year-old man presented with a 1.5-year history of progressive personality changes. Clinical evaluations revealed severe frontal dysfunction and bilateral frontal atrophy/glucose hypometabolism. He was diagnosed as probable behavioral variant frontotemporal dementia. He continued to decline, and died at the age of 66. At autopsy, numerous tau-positive gilial threads and coiled bodies were observed in the white matter. Tau-positive astrocytic plaques and neuronal cytoplasmic inclusions were also seen in cerebral cortices, which were compatible with corticobasal degeneration.

An Autopsy Case of Frontotemporal Dementia with Motor Neuron Disease

Approximately 15% of patients with frontotemporal dementia (FTD) have co-occurring motor neuron disease (MND). FTD-MND cases have frontotemporal lobar degeneration (FTLD)-transactive response DNA-binding protein (TDP) pathology, which is divided into four subtypes (types A, B, C, and D) based on the morphological appearance, cellular location, and distribution of the abnormal TDP inclusions and dystrophic neurites. We report a patient with FTD-MND whose pathological diagnosis was FTLD-TDP type B. This is the first documented autopsy-confirmed case of FTD-MND in Korea.

An Autopsy Case of Frontotemporal Dementia with Motor Neuron Disease

Approximately 15% of patients with frontotemporal dementia (FTD) have co-occurring motor neuron disease (MND). FTD-MND cases have frontotemporal lobar degeneration (FTLD)-transactive response DNA-binding protein (TDP) pathology, which is divided into four subtypes (types A, B, C, and D) based on the morphological appearance, cellular location, and distribution of the abnormal TDP inclusions and dystrophic neurites. We report a patient with FTD-MND whose pathological diagnosis was FTLD-TDP type B. This is the first documented autopsy-confirmed case of FTD-MND in Korea.

Adult-Onset Moyamoya Disease Manifesting as Vascular Parkinsonism

No abstract available.

Cyclosporine-Induced Posterior Reversible Leukoencephalopathy Syndrome With Reduced Cerebral Perfusion

Posterior reversible leukoencephalopathy syndrome (PRLS) is a disorder that is characterized by reversible white-matter edema affecting the posterior regions of the brain. There are rare cases in which cyclosporine has been cited as a medication responsible for PRLS, which causes hypoperfused ischemia by endothelial injury and vasoconstriction, with resultant vasogenic edema. A PRLS patient in whom the condition was induced by cyclosporine is described herein. Perfusion computed tomography revealed a clinically relevant hypoperfused area, including the zones of vasogenic edema.

Typical Case of Alzheimer's Disease Confirmed by Autopsy

No abstract available.

Recurrent Vertigo in Vestibular Schwannoma Responsive to Oxcarbazepine / 대한평형의학회지

Vestibular schwannoma (VS) are benign neoplasms that arise from Schwann cells of the eighth cranial nerve. Although progressive unilateral hearing loss with dizziness or disequilibrium provides a high suspicion index of VS, vertigo is the symptom causing the most pronounced negative effect on quality of life in patients with VS. We report a 55-year-old woman with recurrent paroxysmal vertigo and hyperventilation-induced nystagmus due to VS, which improved by oxcarbazepine treatment. We suggest that episodic vertigo in VS may be ascribed to the ectopic paroxysmal neuronal discharge from the partially demyelinated vestibular nerve due to tumor compression.