[Show abstract][Hide abstract] ABSTRACT: This study aimed to know the state of caregiver burden of family caregivers of patients with dementia and also to know factors associated with the severity of caregiver burden.
[Show abstract][Hide abstract] ABSTRACT: Certain paroxysmal nocturnal behaviors have been established as features of nocturnal frontal lobe epilepsy (NFLE). Despite insight into its genetics, the majority of patients with NFLE are not linked to a known mutation and clinical diagnosis remains a challenge. We describe a family presenting with stereotyped nocturnal arousals from non-rapid eye movement sleep, bilateral hand posturing, and pelvic thrusting in the mother, but subtle motor activity in the daughter, and minimal or no epileptiform EEG discharges. Despite normal IQ, there were moderate and severe verbal memory deficits in the mother and daughter, respectively. Genetic testing revealed the CHRNB2 mutation I312M in transmembrane region 3 (M3) of the neuronal nicotinic acetylcholine receptor. Phenotypic similarities in unrelated families suggest the determining role of this mutation in NFLE, whereas different inter- and intrafamilial cognitive profiles point to other factors. The absence of clear motor features of NFLE in the daughter emphasizes the shortcomings of current clinical criteria and the potential for genetic testing to further guide clinical diagnostic criteria.
[Show abstract][Hide abstract] ABSTRACT: The aim of the present study was to investigate the effects of glucosamine on lipopolysaccharide (LPS)-induced cellular activation in microglia and to evaluate the inhibitory mechanisms involved. Lipopolysaccharide (100 ng/mL) was used for the activation of primary cultured rat microglial or BV2 microglial cells. Changes in intracellular Ca2+ levels and outward K+ currents were measured using fura-2/AM and whole-cell patch-clamp methods, respectively. Lipopolysaccharide-induced expression of tumour necrosis factor (TNF)-alpha mRNA was analysed by reverse transcription-polymerase chain reaction. Lipopolysaccharide transformed cell morphology into an amoeboid shape in vitro and induced microglial activation in vivo, as measured by immunohistochemical staining, but glucosamine inhibited this activation. Glucosamine also inhibited LPS-induced Ca2+ influx, outward K+ currents and TNF-alpha mRNA expression, which are typically representative of microglial activation. 4. The results suggest that the inhibitory mechanisms of glucosamine on LPS-induced microglial activation include inhibition of Ca2+ influx and outward K+ currents, as well as downregulation of the microglial activator gene TNF-alpha.
No preview · Article · Jan 2006 · Clinical and Experimental Pharmacology and Physiology
[Show abstract][Hide abstract] ABSTRACT: A Korean family had distinctive clinical and neuroimaging features and carried the same genetic mutation that was found in a previously described Japanese kindred with autosomal dominant nocturnal frontal lobe epilepsy.
To describe the first Korean family with autosomal dominant nocturnal frontal lobe epilepsy.
Members of a large family, including 9 affected individuals from 3 generations, underwent a comprehensive genetic, clinical, electroencephalographic, neuropsychological, and neuroimaging evaluation. Affected members were tested for possible mutations in transmembrane regions 1 through 3 of the neuronal nicotinic acetylcholine receptor alpha4 subunit (CHRNA4) by direct sequencing and subsequent restriction analysis.
Seizures began in childhood, presenting as nocturnal episodes of staring, confusion, shouting, perioral movements, unintelligible speech, and hand waving. Some patients had ictal or interictal epileptiform activity in the temporal and/or frontocentral areas. Neurological examination and brain magnetic resonance imaging results showed no abnormalities, except that all patients available for testing had mild to moderate mental retardation. Fluorodeoxyglucose F 18 with positron emission tomography showed mild decreased glucose uptake in the superior and middle frontal regions, more so on the left than on the right. Patient response to carbamazepine was poor. All affected members were heterozygous for the CHRNA4 Ser252Leu mutation.
Disorders associated with mutations in the transmembrane region 2 of CHRNA4 are genetically and phenotypically heterogeneous. Distinctive features of this kindred include (1) mental retardation in all affected members available for testing, (2) abnormal brain findings on fluorodeoxyglucose F 18 with positron emission tomography, (3) poor response to carbamazepine, and (4) full penetrance.
[Show abstract][Hide abstract] ABSTRACT: Acute ischemic stroke in the distribution of the anterior inferior cerebellar artery (AICA) is known to be associated with vertigo, nystagmus, facial weakness, and gait ataxia. Few reports have carefully examined the deafness associated with the AICA infarction. Furthermore, previous neurological reports have not emphasized the inner ear as a localization of sudden deafness. The aim of this study was to investigate the incidence of deafness associated with the AICA infarction and the sites predominantly involved in deafness.
Over 2 years, we prospectively identified 12 consecutive patients with unilateral AICA infarction diagnosed by brain MRI. Pure-tone audiogram, speech discrimination testing, stapedial reflex testing, and auditory brainstem response were performed to localize the site of lesion in the auditory pathways. Electronystagmography was also performed to evaluate the function of the vestibular system.
The most common affected site on brain MRI was the middle cerebellar peduncle (n=11). Four patients had vertigo and/or acute auditory symptoms such as hearing loss or tinnitus as an isolated manifestation from 1 day to 2 months before infarction. Audiological testings confirmed sensorineural hearing loss in 11 patients (92%), predominantly cochlear in 6 patients, retrocochlear in 1 patient, and combined on the affected side cochlear and retrocochlear in 4 patients. Electronystagmography demonstrated no response to caloric stimulation in 10 patients (83%).
In our series, sudden deafness was an important sign for the diagnosis of AICA infarction. Audiological examinations suggest that sudden deafness in AICA infarction is usually due to dysfunction of the cochlea resulting from ischemia to the inner ear.
[Show abstract][Hide abstract] ABSTRACT: Background : Parkinson's Disease (PD) is a progressive neurodegenerative disorder characterized by resting tremor, rigidity, and bradykinesia. L-3,4-dihydroxyphenylalanine (L-dopa) has been used for over last 3 decades to treat this disorder, however, its usage is limited due to the reducing effectiveness on time and severe side effects. The best strate - gy for treating this disorder without serious side effects would be to keep a constant level of dopamine in the brain. This could be achieved by gene or cell therapy using gene(s) involved in dopamine biosynthesis or cells from other individual. For Parkinson's gene therapy, however, there still are controversies on which gene in what combination will yield the best result. In this report, we propose a biochemical background for using GTP cyclohydrolase I (GTPCH I) in addition to TH for higher and/or more stable expression of TH. Methods : TH and GTPCH I cDNA were subcloned into retroviral vectos and resulting recombinant retrovirus packaged in BOSC 23 cells were used to infect NIH-3T3. Confirming successful infections by western blot analysis, the new cell lines were used to examine steady state TH expression level and TH activity. Furthermore, the effect of ectopic expression of BH 4 to the proliferation of these cells were studied. Results : NIH-3T3 cells expressing both TH and GTPCH I showed approximately 10 fold higher expres- sion of TH protein than the cells expressing TH alone. The activity of KNTH2GC6 was approximately 4-6 fold higher than that of striatal tissue and 60 fold higher than KNTH2. Furthermore, growth rate of KNTH2GC6 was strikingly reduced by inhibiting the biosynthesis of BH 4. Conclusions : We showed that the use of GTPCH I in addition to TH not only increased the stability and/or expression of TH protein but also the activity of the enzyme. These improved characteristics of TH protein are very likely due to the expression of BH 4 and should be very seriously considered for Parkinson's gene therapy. J Kor Neurol Ass 17(1):122~130, 1999