Prevalence of Dementia among the South Korean Population / 임상당뇨병

Epidemiological studies have found that the prevalence of dementia increases steeply with age in the elderly population, although the slope may be less steep after the 10th decade of life. Considering that South Korea now holds the distinction of having the fastest aging population in the world, a substantial increase in the prevalence of dementia in the coming years is to be expected. The prevalence of dementia depends upon the interaction of age with other factors (e.g. comorbidities or genetic or environmental factors) that in turn are subject to change. If the onset of dementia could be delayed by modulating its risk factors, its incidence could be significantly reduced. In the present review, we describe the overall prevalence of dementia and its subtype, as well as its prevalence among the South Korean population. We also describe the prevalence of mild cognitive impairment.

Pure Word Deafness in a Patient with Early-Onset Alzheimer's Disease: An Unusual Presentation

BACKGROUND AND PURPOSE: The occurrence of PWD in neurodegenerative disease is very rare, and this is the first report of it being related to early-onset AD. We describe a patient with early-onset Alzheimer's disease (AD) who presented with pure word deafness (PWD). CASE REPORT: The patient had experienced PWD for 2 years, followed by other cognitive deficits suggestive of parietotemporal dysfunction. Brain imaging including 18FDG-PET and [11C] PIB-PET supported the diagnosis of AD. CONCLUSIONS: Our case highlights the clinical variability that characterizes early-onset AD.

Cerebral Infarction During Sexual Intercourse

Paradoxical embolism after the Valsalva maneuver can cause ischemic stroke in patients with patent foramen ovale (PFO). A 27-year-old woman presented with abnormal movement of the right arm and aphasia. Brain imaging showed acute infarction in the left frontal lobe and segmental steno-occlusion in the left middle cerebral artery. A PFO study demonstrated air embolic signals in the middle cerebral artery. This case of embolic stroke occurred during sexual intercourse, probably related to the Valsalva maneuver, in a patient with PFO.

Kearns-Sayre Syndrome with a Large Deletion in Mitochondrial DNA

Mitochondrial DNA (mtDNA) deletions have been found in a majority of patients with Kearns-Sayre syndrome (KSS). The proband, a 14-year-old male, presented with retinitis pigmentosa, bilateral ptosis with an external opthalmoplegia, and ragged-red fibers in his biceps. The common 5-kb deleted mtDNA was identified in the patient by a long template PCR and DNA sequencing analysis. The deletion was located within the 8469-1344 position and a 13-kb direct repeat sequence was shown in the junction.

Metabolic and Menstrual Disturbances in Women with Epilepsy

BACKGROUND: Women with epilepsy tend to have hormonal and metabolic disturbances. This study was performed to investigate whether epileptic women with specific epileptic syndromes or antiepileptic drugs (AEDs) are at risk for metabolic and/or menstrual abnormalities. METHODS: Women with epilepsy aged 15 to 50 years old, currently on AED medications for more than 6 months, were recruited for this study. Subjects checked their oral temperature each morning. Serum tests for lipid profiles, insulin, glucose, and leptin were performed on menstrual cycle days 2 to 3. HOMA-index, as a marker of insulin resistance, was calculated. RESULTS: In total 57 patients, 19 women were diagnosed as primary generalized epilepsy (PGE) and the other 38 as localization-related epilepsy (LRE). Among them, 42 patients were on monotherapy; 19 women on carbamazepine (CBZ), 12 on valproate (VPA), and 11 on lamotrigine (LTG). Body mass index increased in VPA group (24.43+/-3.61) compared to CBZ (22.03+/-2.45) or LTG (21.68+/-2.14) group (p=0.046), and metabolic syndrome was more commonly associated in VPA group (5/12, 41.7%) than in CBZ (1/19, 5.3%) or LTG (0%) group (p=0.005). Epileptic women on VPA experienced menstrual irregularity (7/12, 58.8%) more frequently, compared to CBZ (4/19, 21.1%) or LTG (3/11, 27.3%) group (p=0.089). No differences were observed between PGE and LRE groups. CONCLUSIONS: Women with epilepsy on VPA tend to be more obese, and more frequently have metabolic and/or menstrual abnormalities than epileptic women on CBZ or LTG..

A Family of Hereditary Neuropathy with Liability to Pressure Palsy Presenting Atypical Electrophysiological Features

We report a 15-year-old girl with hereditary neuropathy with liability to pressure palsy (HNPP), whose electrophysiological features mimicked Charcot-Marie-Tooth disease 1A. Her mother was asymptomatic, but a nerve conduction study was compatible with HNPP. Molecular analysis confirmed the deletion of chromosome 17p11.2 in both patients. Our case suggests that HNPP has more diverse electrophysiological features than reported so far.

Association between MTHFR C677T Polymorphism and Ischemic Stroke

BACKGROUND: Hyperhomocysteinemia is an independent risk factor for ischemic stroke. Methylenetetrahydrofolate reductase (MTHFR) C677T polymorphism has been known to result in reduced MTHFR enzyme activity, and induced hyperhomocysteinemia. Recently, a significant association with ischemic stroke was identified for the homozygous T allele of the MTHFR polymorphism by meta-analysis. This current study was undertaken to determine whether MTHFR C677T polymorphism was associated with ischemic stroke in the Korean population. METHODS: We enrolled 1292 patients with ischemic stroke and 457 healthy individuals and measured their fasting plasma homocysteine levels and analyzed the C677T polymorphisms in the MTHFR gene. RESULTS: The prevalence of the homozygous mutation was significantly higher in ischemic stroke patients (23.9%) than in controls (13.8%; por=11.80 micro mol/L), moderate (8.80 to 11.79 micro mol/L), and low (<8.80 micro mol/L) groups, the AOR was significantly greater in subjects with the high group compared with the low group (AOR, 3.61; 95%CI, 2.63 to 4.95). The AOR and 95% confidence intervals was 1.74 (1.27 to 2.37) for the TT genotype in patients with ischemic stroke compared to controls. CONCLUSIONS: We found that the MTHFR C677T polymorphism is an independent risk factor for ischemic stroke in Koreans, and our findings may have the predictive value of ischemic stroke by analyzing genetic defects.

Mechanisms of Decreased Bone Mineral Density and Altered Bone Metabolism Induced by Antiepileptic Drugs

BACKGROUND: The adverse effects of antiepileptic drugs (AEDs) on bone metabolism have been reported in epilepsy patients, however the underlying mechanisms have yet to be completely understood. The purpose of this study was to determine whether or not there is an abnormality in bone mineral density (BMD) in epilepsy patients with long-term AED treatment, and also to investigate the underlying mechanisms related to those abnormalities. METHODS: BMD was measured by densitometer using dual-energy X-ray absorptionmetry (Lunar PIXI) at the right calcaneus in both patients who had already taken AEDs longer than 6 months, and in patients with newly diagnosed epilepsy. A total of 80 patients (45 women and 35 men) were recruited for the former group, and 29 (11 women and 18 men) for the latter group. In the latter group, BMD and markers for bone metabolism were measured before and after 6 months of AED treatment including serum parathyroid hormone (PTH), total and ionized calcium, osteocalcin, 25-(OH) vitamin D, and urine pyrilinks. RESULTS: BMD decreased in epileptic women compared to the control group (p=0.021). Decreased BMD was most prominent in patients with phenytoin or phenobarbital. Osteocalcin and PTH levels increased after 6 months of AED therapy (p=0.002 and p<0.0001, respectively). CONCLUSIONS: BMD decreased in patients with epilepsy, especially in women even in premenopausal age, in those who are taking phenytoin or phenobarbital. AEDs increase bone turnover, which may relate to these alterations in bone mass and bone metabolism.

A Case of Idiopathic Localized Hypertrophic Pachymeningitis Presented with Partial Seizures / 대한간질학회지

Idiopathic hypertrophic pachymeningitis is a clinical disorder caused by a localized or diffuse thickening of the dura mater, with an associated chronic inflammation. This can be diagnosed when there is no evidence of other etiologies such as trauma, infection, tumors, and Wegener's disease. Clinical manifestations are chronic headache with or without neurological manifestations such as cranial nerve palsies, cerebellar ataxia, neuro-ophthalmologic complications, and rarely clinical seizures. We described a patient with simple partial seizures with focal sensory and motor symptoms in the right hand as an initial and the only clinical manifestation, accompanied by a tumor-like lesion in the left parietal convexity on brain MRI. The patient underwent a lesionectomy, and the seizures have been well controlled so far without immunosuppressant treatment.