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OBJECTIVE: Patients with Parkinson's disease (PD) frequently experience depression associated with voice problems. Singing involves the use of similar muscles and the neural networks associated with vocal function and emotional response. The purpose of this study is to enhance vocal quality and depressive symptoms of patients with PD using individual singing program. METHODS: The Individual Therapeutic Singing Program for PD (ITSP-PD) was conducted by a certified music therapist. In total, nine PD patients with a subjective voice problem or depression participated in 6 sessions over 2 weeks. We measured the Maximum Phonation Time (MPT) via the Praat test, the Voice Handicap Index (VHI), the Voice-Related Quality of Life (V-RQOL) and the Geriatric Depression Scale (GDS). RESULTS: In total, 8 out of 9 patients completed all the sessions; 6 out of 8 patients participated in the follow-up test after 6 months. A statistically significant change in MPT (p = 0.011) was observed between the pre- and post-tests. The VHI (p = 0.035) and the GDS (p = 0.018) were significantly lower in the post-test. In the pre-, post-, and follow-up tests, the MPT (p = 0.030), V-RQOL (p = 0.008), and GDS (p = 0.009) were significantly changed. CONCLUSION: The ITSP-PD based on neurological singing therapy for PD showed therapeutic possibility for vocal function and depression in patients with PD. Our findings suggest the need for a randomized study to examine the continuing positive effects of the ITSP-PD over a longer period of time.
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Dentatorubropallidoluysian atrophy (DRPLA) is a neurodegenerative disease caused by an expansion of a cytosine-adenine-guanine (CAG) repeat encoding a polyglutamine tract in the atrophin-1 protein. Unlike other CAG repeat diseases, sleep related problems have not been reported in patients with DRPLA. There was a 65-year-old man and his family with DRPLA. They suffered from seizure, gait disturbance, and cognitive decline. The patients commonly showed dream enacting sleep disorder, insomnia. The results from overnight polysomnography showed rapid eye movement (REM) without atonia in patients with DRPLA. The man died 2 years after diagnosis and was subjected for brain autopsy. We report REM sleep behavior disorders in patients with DRPLA confirmed with polysomnography with pathological description of the patient.
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Encéfalo/patología , Enfermedades Neurodegenerativas/complicaciones , Trastornos del Sueño-Vigilia/complicaciones , Sueño , Adulto , Anciano , Salud de la Familia , Resultado Fatal , Femenino , Humanos , Masculino , Destreza Motora , Proteínas del Tejido Nervioso/genética , Enfermedades Neurodegenerativas/patología , Linaje , Polisomnografía , Convulsiones/complicaciones , Convulsiones/diagnóstico , Trastornos del Sueño-Vigilia/patología , Sueño REM , Expansión de Repetición de TrinucleótidoRESUMEN
This study was to investigate the effects of individual and district-level socioeconomic status (SES) on the development of cognitive impairment among the elderly. A 3-year retrospective observational analysis (2010-2013) was conducted which included 136,217 community-dwelling healthy elderly who participated in the Seoul Dementia Management Project. Cognitive impairment was defined as 1.5 standard deviations below the norms on the Mini-mental status examination. In the individual lower SES group, the cumulative incidence rate (CIR) of cognitive impairment was 8.7% (95% confidence interval [CI], 8.64-8.70), whereas the CIR in the individual higher SES group was 4.1% (95% CI, 4.08-4.10). The CIR for lower district-level SES was 4.7% (95% CI, 4.52-4.86), while that in the higher district-level SES was 4.3% (95% CI, 4.06-4.44). There were no additive or synergistic effects between individual and district-level SES. From this study, the individual SES contributed 1.9 times greater to the development of cognitive impairment than the district-level SES, which suggests that individual SES disparities could be considered as one of the important factors in public health related to cognitive impairment in the elderly.
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Disfunción Cognitiva/diagnóstico , Clase Social , Factores de Edad , Anciano , Disfunción Cognitiva/economía , Disfunción Cognitiva/epidemiología , Bases de Datos Factuales , Femenino , Humanos , Incidencia , Estudios Longitudinales , Masculino , Modelos de Riesgos Proporcionales , Estudios Retrospectivos , Factores de Riesgo , Seúl/epidemiología , Factores SexualesRESUMEN
BACKGROUND: The number of patients suffering post-stroke seizure after ischemic stroke (PSSi) is quite considerable, especially because ischemic stroke is more prevalent than hemorrhage in the general population. This study aimed to determine the predicting factors for seizure recurrence in ischemic stroke survivors and develop a clinical scoring system for the prediction of risks for seizure recurrence after the first PSSi. METHODS: We reviewed 3792 ischemic stroke patients who had admitted to Ewha Womans University hospital between 2001 and 2012. A total of 124 (3.3 %) patients who experienced PSSi were recruited (mean follow-up for 44.4 months). Medical records concerning the etiology, functional disability, seizure onset latency from stroke, type of seizure, electroencephalography (EEG), and neuroimaging findings were statistically analyzed to derive a seizure recurrence risk scoring system. RESULTS: Seizures recurred in 35.4 % (17/48) of early PSSi patients (≤1 week since stroke onset) and 48.7 % (37/76) of late PSSi (>1 week) patients. Atrial fibrillation, large sized, and cortical stroke lesion were more common in late onset PSSi compared to those in early onset PSSi (p < 0.05). Seizure recurrence tended to be more prevalent in early PSSi patients with male gender, atrial fibrillation or cortical stroke lesion, severe functional disability, and partial seizures. Seizure recurrence in late PSSi group was more common in patients of young age (≤65 years old), male gender, large lesion size, and partial seizure type. The validity of seizure recurrence risk score in the early PSSi group was better when evaluating based on gender, atrial fibrillation, cortical lesion, functional disability, and partial seizure type, with sensitivity of 70.6 % and specificity of 71.0 %. CONCLUSIONS: Our study characterized the high risk group for seizure recurrence in patients with the first PSSi. PSSi patients with high risk score of seizure recurrence had a greater chance of developing epilepsy later. Therefore, they should be considered for further treatment such as antiepileptic drug medication in clinical practice.
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Convulsiones/epidemiología , Convulsiones/etiología , Accidente Cerebrovascular/complicaciones , Adolescente , Adulto , Anciano , Femenino , Estudios de Seguimiento , Humanos , Masculino , Persona de Mediana Edad , Prevalencia , Recurrencia , Sistema de Registros , Factores de RiesgoRESUMEN
BACKGROUND: The most-widely used visual rating scale (VRS) for medial temporal atrophy is the T1-weighted (T1W) coronal VRS developed by Scheltens et al. However, it is often difficult to use the T1W-coronal VRS in cases with limitations in obtaining T1W-coronal images. To overcome this issue, we modified the T1W-coronal VRS onto the axial plane. OBJECTIVE: The purposes of this study were to validate our T1W-axial VRS by examining its compatibility with the original T1W-coronal VRS and by investigating the correlation with the cognitive functions and hippocampal volumes. METHODS: Participants were 50 patients with Alzheimer's disease dementia and 30 elderly with normal cognition. We transposed each component of the T1W-coronal VRS onto T1W-axial images (i.e., the largest height of the hippocampal formation into the width of the medial temporal lobe). The compatibility of T1W-axial VRS with T1W-coronal one was determined using the kappa value. The correlations of T1W-axial VRS with cognitive performance or the hippocampal volumes were analyzed with age, gender, and education as covariates. RESULTS: The kappa value between the T1W-axial and T1W-coronal VRS was 0.772 (p < 0.045). The T1W-axial VRS showed a significant correlation with the scores of cognitive functions, including verbal memory tests (-0.601, p < 0.001 for the left). Furthermore, the T1W-axial VRS also correlated well with hippocampal volumes (-0.576, p < 0.001). CONCLUSIONS: The T1W-axial VRS showed good agreement with T1W-coronal VRS and correlated well with cognitive functions as well as hippocampal volumes, which suggests that the T1-axial VRS may replace the original T1W-coronal one.
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Enfermedad de Alzheimer/diagnóstico , Enfermedad de Alzheimer/patología , Imagen por Resonancia Magnética/métodos , Índice de Severidad de la Enfermedad , Lóbulo Temporal/patología , Factores de Edad , Anciano , Atrofia , Escolaridad , Femenino , Hipocampo/patología , Humanos , Masculino , Memoria , Pruebas Neuropsicológicas , Tamaño de los Órganos , Sensibilidad y Especificidad , Factores Sexuales , Percepción del HablaRESUMEN
OBJECTIVE: To identify the genetic cause of an autosomal recessive demyelinating Charcot-Marie-Tooth disease type 4B (CMT4B) family. METHODS: We enrolled 14 members of a Korean family in which 3 individuals had demyelinating CMT4B phenotype and obtained distal sural nerve biopsies from all affected participants. We conducted exome sequencing on 6 samples (3 affected and 3 unaffected individuals). RESULTS: One pair of heterozygous missense mutations in the SET binding factor 1 (SBF1) gene (22q13.33), also called MTMR5, was identified as the underlying cause of the CMT4B family illness. Clinical phenotypes of affected study participants with CMT4B were similar, to some extent, to patients with CMT4B1 and CMT4B2. We found a similar loss of large myelinated fibers and focally folded myelin sheaths in our patients, but the actual number of myelinated fibers was different from CMT4B1 and CMT4B2. CONCLUSIONS: We suggest that the compound heterozygous mutations in SBF1 are the underlying causes of a novel CMT4B subtype, designated as CMT4B3. We believe that this study will lead to mechanistic studies to discover the function of SBF1 and to the development of molecular diagnostics for CMT disease.
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Enfermedad de Charcot-Marie-Tooth/genética , Péptidos y Proteínas de Señalización Intracelular/genética , Mutación Missense/genética , Transcriptoma/genética , Adulto , Enfermedad de Charcot-Marie-Tooth/patología , Enfermedad de Charcot-Marie-Tooth/fisiopatología , Exoma/genética , Femenino , Tamización de Portadores Genéticos , Genotipo , Humanos , Masculino , Persona de Mediana Edad , Linaje , Fenotipo , República de Corea , Adulto JovenRESUMEN
Cortical physiology in human motor cortex is influenced by behavioral motor training (MT) as well as repetitive transcranial magnetic stimulation protocol such as intermittent theta burst stimulation (iTBS). This study aimed to test whether MT and iTBS can interact with each other to produce additive changes in motor cortical physiology. We hypothesized that potential interaction between MT and iTBS would be dependent on BDNF Val66Met polymorphism, which is known to affect neuroplasticity in the human motor cortex. Eighty two healthy volunteers were genotyped for BDNF polymorphism. Thirty subjects were assigned for MT alone, 23 for iTBS alone, and 29 for MT + iTBS paradigms. TMS indices for cortical excitability and motor map areas were measured prior to and after each paradigm. MT alone significantly increased the motor cortical excitability and expanded the motor map areas. The iTBS alone paradigm also enhanced excitability and increased the motor map areas to a slightly greater extent than MT alone. A combination of MT and iTBS resulted in the largest increases in the cortical excitability, and the representational motor map expansion of MT + iTBS was significantly greater than MT or iTBS alone only in Val/Val genotype. As a result, the additive interaction between MT and iTBS was highly dependent on BDNF Val66Met polymorphism. Our results may have clinical relevance in designing rehabilitative strategies that combine therapeutic cortical stimulation and physical exercise for patients with motor disabilities.
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Factor Neurotrófico Derivado del Encéfalo/genética , Corteza Motora/fisiología , Plasticidad Neuronal/genética , Estimulación Magnética Transcraneal/métodos , Adulto , ADN/sangre , ADN/genética , Femenino , Humanos , Masculino , Polimorfismo de Nucleótido Simple , Adulto JovenRESUMEN
BACKGROUND AND PURPOSE: Charcot-Marie-Tooth disease (CMT) type 1A (CMT1A) is the demyelinating form of CMT that is significantly associated with PMP22 duplication. Some studies have found that the disease-related disabilities of these patients are correlated with their compound muscle action potentials (CMAPs), while others have suggested that they are related to the nerve conduction velocities. In the present study, we investigated the correlations between the disease-related disabilities and the electrophysiological values in a large cohort of Korean CMT1A patients. METHODS: We analyzed 167 CMT1A patients of Korean origin with PMP22 duplication using clinical and electrophysiological assessments, including the CMT neuropathy score and the functional disability scale. RESULTS: Clinical motor disabilities were significantly correlated with the CMAPs but not the motor nerve conduction velocities (MNCVs). Moreover, the observed sensory impairments matched the corresponding reductions in the sensory nerve action potentials (SNAPs) but not with slowing of the sensory nerve conduction velocities (SNCVs). In addition, CMAPs were strongly correlated with the disease duration but not with the age at onset. The terminal latency index did not differ between CMT1A patients and healthy controls. CONCLUSIONS: In CMT1A patients, disease-related disabilities such as muscle wasting and sensory impairment were strongly correlated with CMAPs and SNAPs but not with the MNCVs or SNCVs. Therefore, we suggest that the clinical disabilities of CMT patients are determined by the extent of axonal dysfunction.
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Charcot-Marie-Tooth disease (CMT) is one of the most common inherited neuropathies and is a genetically and clinically heterogeneous disorder with variable inheritance modes. As several molecules have been reported to have therapeutic effects on CMT, depending on the underlying genetic causes, exact genetic diagnostics have become very important for executing personalized therapy. Whole-exome sequencing has recently been introduced as an available method to identify rare or novel genetic defects from genetic disorders. Particularly, CMT is a model disease to apply exome sequencing because more than 50 genes (loci) are involved in its development with weak genotype-phenotype correlation. This study performed the exome sequencing in 25 unrelated CMT patients who revealed neither 17p12 duplication/deletion nor several major CMT genes. This study identified eight causative heterozygous mutations (32%). This detection rate seems rather high because each sample was tested before the study for major genetic causes. Therefore, this study suggests that the exome sequencing can be a highly exact, rapid, and economical molecular diagnostic tool for CMT patients who are tested for major genetic causes.
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Enfermedad de Charcot-Marie-Tooth/diagnóstico , Enfermedad de Charcot-Marie-Tooth/genética , Exoma , Pruebas Genéticas/métodos , Adolescente , Adulto , Secuencia de Aminoácidos , Secuencia de Bases , Enfermedad de Charcot-Marie-Tooth/clasificación , Niño , Preescolar , ADN/genética , Análisis Mutacional de ADN , Femenino , Humanos , Mutación INDEL , Lactante , Masculino , Datos de Secuencia Molecular , Proteínas del Tejido Nervioso/genética , Proteínas de Neurofilamentos/genética , Linaje , Polimorfismo de Nucleótido Simple , Homología de Secuencia de Aminoácido , Adulto JovenRESUMEN
Both peripheral neuropathy and distal myopathy are well-established inherited neuromuscular disorders characterized by progressive weakness and atrophy of the distal limb muscles. A complex phenotype of peripheral neuropathy, myopathy, hoarseness, and hearing loss was diagnosed in a large autosomal dominant Korean family. A high density single nucleotide polymorphism (SNP)-based linkage study mapped the underlying gene to a region on chromosome 19q13.3. The maximum multipoint LOD score was 3.794. Sequencing of 34 positional candidate genes in the segregating haplotype revealed a novel c.2822G>T (p.Arg941Leu) mutation in the gene MYH14, which encodes the nonmuscle myosin heavy chain 14. Clinically we observed a sequential pattern of the onset of muscle weakness starting from the anterior to the posterior leg muscle compartments followed by involvement of intrinsic hand and proximal muscles. The hearing loss and hoarseness followed the onset of distal muscle weakness. Histopathologic and electrodiagnostic studies revealed both chronic neuropathic and myopathic features in the affected patients. Although mutations in MYH14 have been shown to cause nonsyndromic autosomal dominant hearing loss (DFNA4), the peripheral neuropathy, myopathy, and hoarseness have not been associated with MYH14. Therefore, we suggest that the identified mutation in MYH14 significantly expands the phenotypic spectrum of this gene.
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Pérdida Auditiva/genética , Ronquera/genética , Enfermedades Musculares/genética , Cadenas Pesadas de Miosina/genética , Miosina Tipo II/genética , Enfermedades del Sistema Nervioso Periférico/genética , Adolescente , Adulto , Secuencia de Aminoácidos , Femenino , Estudios de Asociación Genética , Ligamiento Genético , Haplotipos , Pérdida Auditiva/patología , Ronquera/patología , Humanos , Masculino , Persona de Mediana Edad , Datos de Secuencia Molecular , Enfermedades Musculares/patología , Mutación , Enfermedades del Sistema Nervioso Periférico/patología , Polimorfismo de Nucleótido Simple , República de CoreaRESUMEN
Charcot-Marie-Tooth disease (CMT) is a clinically and genetically heterogeneous peripheral neuropathy. The objective of this study was to find the causative mutation(s) in a demyelinating autosomal dominant CMT family. A high density SNP-based genome-wide linkage scan was performed, and causative mutations were determined by sequencing of candidate genes in the linkage disequilibrium region. Linkage analysis mapped the underlying gene to a region on chromosome 1q22-q23 with a maximum two-point LOD score of 2.036. Sequencing analysis revealed a novel c.243C>G (His81Gln) mutation in the MPZ gene, which encodes the major integral membrane protein of the peripheral nerve system. MPZ is well known as a CMT-causative gene with wide phenotypic spectrum. The clinical symptoms were more similar to those of patients with the His81Arg than patients with the His81Tyr mutation. The novel mutation completely co-segregated with affected members, and was not found in controls. Therefore, we suggest that the identified mutation in MPZ is the underlying cause of CMT in the family. In addition, this study demonstrated that the clinical phenotypes may be variable with different mutations at the same site in the MPZ gene.
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Enfermedad de Charcot-Marie-Tooth/genética , Estudio de Asociación del Genoma Completo/métodos , Mutación , Proteína P0 de la Mielina/genética , Secuencia de Aminoácidos , Pueblo Asiatico , Estudios de Casos y Controles , Enfermedad de Charcot-Marie-Tooth/patología , Niño , Preescolar , Fenómenos Electrofisiológicos , Femenino , Ligamiento Genético , Genotipo , Humanos , Imagen por Resonancia Magnética , Masculino , Datos de Secuencia Molecular , Proteína P0 de la Mielina/metabolismo , Linaje , Polimorfismo de Nucleótido SimpleRESUMEN
OBJECTIVE: To investigate the effects of sleep deprivation on physical health, cognition, and work performance in residents and interns who suffer from chronic sleep deprivation. METHODS: Fifty-eight residents and interns were recruited in this study. They completed sleep diary for 2 weeks and questionnaires including health complaints, daytime sleepiness and work performance, and were evaluated with actigraphy. Stroop test, continuous performance test (CPT), trail-making test (TMT) and Korean-California verbal learning test (K-CVLT) were done as neuropsychological evaluations. Subjects were divided into severe sleep deprived (S-SD, average night sleep less than 4 h), mild to moderate deprived (M-SD, 4-6 h), and non-sleep deprived (Non-SD, more than 6 h) groups. RESULTS: Forty-one subjects (70.7%) were sleep-deprived. Mean sleep duration was 5.0±1.2 h/night and work duration was 14.9±2.7 h/day. The S-SD group showed higher Epworth Sleepiness Scales than M-SD and Non-SD groups. Severe sleep deprivation was associated with higher level of stress, more frequent attention deficit, and difficulty in learning (P<0.05), but not with decreased neuropsychological test results. CONCLUSION: These results suggested that sleep deprivation in residents and interns might affect their health as well as work performance that might influence the quality of patient care, although active compensatory brain mechanisms could be involved to preserve their performance.
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Encuestas Epidemiológicas , Internado y Residencia/estadística & datos numéricos , Cuerpo Médico de Hospitales/estadística & datos numéricos , Enfermedades Profesionales/epidemiología , Privación de Sueño/epidemiología , Actigrafía , Adulto , Atención , Enfermedad Crónica , Cognición , Femenino , Humanos , Masculino , Registros Médicos , República de Corea/epidemiología , Fases del Sueño , Conducta SocialRESUMEN
A wide range of phenotypes have been reported in autosomal recessive (AR) Charcot-Marie-Tooth disease (CMT) patients carrying mutations in the ganglioside-induced differentiation-associated protein 1 (GDAP1) gene, such as axonal, demyelinating, and intermediate forms of AR CMT. There have been very few reports of GDAP1 mutations in autosomal dominant (AD) CMT. Here, we report an AD CMT family with a novel Q218E mutation in the GDAP1 gene. The mutation was located within the well-conserved glutathione S-transferase (GST) core region and co-segregated with the affected members in the pedigree. The affected AD CMT individuals had a later disease onset and much milder phenotypes than the AR CMT patients, and the histopathologic examination revealed both axonal degeneration and demyelination.
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Enfermedad de Charcot-Marie-Tooth/genética , Proteínas del Tejido Nervioso/genética , Mutación Puntual/genética , Adolescente , Secuencia de Aminoácidos , Secuencia de Bases , Enfermedad de Charcot-Marie-Tooth/patología , Análisis Mutacional de ADN , Electrofisiología , Femenino , Genes Dominantes/genética , Humanos , Corea (Geográfico) , Masculino , Persona de Mediana Edad , Datos de Secuencia Molecular , Linaje , Nervio Sural/ultraestructuraRESUMEN
PURPOSE: To gain insight into the mechanisms underlying poststroke epilepsy (PSE), we evaluated motor cortical function in chronic stroke patients with (N = 18) and without (N = 18) PSE. METHODS: We measured resting motor threshold (RMT), motor evoked potential (MEP) amplitudes, cortical silent period (CSP), intracortical inhibition (ICI), influenced by GABAergic neurotransmission, and intracortical facilitation (ICF), influenced by glutamatergic activity, to transcranial magnetic stimulation. RESULTS: We found (1) larger MEP amplitudes and ICF, in the affected than unaffected hemispheres of patients in the PSE group but not in patients without epilepsy, and (2) comparably higher RMT and longer CSP in the absence of differences in ICI, H-reflexes or F-waves in the affected and unaffected hemispheres of both PSE and non-PSE patients. CONCLUSIONS: Enhanced cortical excitability in the affected hemisphere, possibly related to increased glutamatergic activity, could be one of the mechanisms contributing to the development of poststroke epilepsy.
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Epilepsia/fisiopatología , Potenciales Evocados Motores/fisiología , Corteza Motora/fisiopatología , Accidente Cerebrovascular/complicaciones , Estimulación Magnética Transcraneal , Anciano , Anticonvulsivantes/farmacología , Anticonvulsivantes/uso terapéutico , Corteza Cerebral/efectos de los fármacos , Corteza Cerebral/fisiopatología , Enfermedad Crónica , Electroencefalografía/efectos de los fármacos , Electroencefalografía/estadística & datos numéricos , Electromiografía/estadística & datos numéricos , Epilepsia/tratamiento farmacológico , Epilepsia/etiología , Femenino , Lateralidad Funcional/fisiología , Glutamatos/fisiología , Humanos , Masculino , Persona de Mediana Edad , Corteza Motora/efectos de los fármacos , Inhibición Neural/fisiología , Descanso/fisiología , Accidente Cerebrovascular/fisiopatologíaRESUMEN
BACKGROUND AND PURPOSE: The availability and promise of effective treatments for neurodegenerative disorders are increasing the importance of early diagnosis. Having molecular and biochemical markers of Alzheimer's disease (AD) would complement clinical approaches, and further the goals of early and accurate diagnosis. Combining multiple biomarkers in evaluations significantly increases the sensitivity and specificity of the biochemical tests. METHODS: In this study, we used color-coded bead-based Luminex technology to test the potential of using chemokines and cytokines as biochemical markers of AD. We measured the levels of 22 chemokines and cytokines in the serum and cerebrospinal fluid (CSF) of 32 de novo patients (13 controls, 11 AD, and 8 Parkinson's disease [PD]). RESULTS: MCP-1 was the only cytokine detectable in CSF, and its levels did not differ between control and disease groups. However, the serum concentration of eotaxin was significantly higher in AD patients than in the control group. CONCLUSIONS: The analysis of multiple inflammatory mediators revealed marginal differences in their CSF and serum concentrations for the differential diagnosis of AD and PD. These results provide evidence that immunological responses are not major contributors to the pathogenesis of AD and PD.
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Antiepileptic drugs (AEDs) can affect bone metabolism, but the exact mechanisms or differences in individual drugs are still unknown. The purpose of this study was to prospectively investigate the alterations in bone mineral density (BMD) and markers of bone metabolism induced by different AEDs in Koreans with epilepsy. Subjects included 33 drug-naïve, newly diagnosed patients with epilepsy aged between 18 and 50. BMD at right calcaneus and various markers for bone metabolism were measured before and after 6months of AED monotherapy including carbamazepine, valproic acid, and lamotrigine. Carbamazepine caused a significant decrease in BMD, which was accompanied by a decrease in the level of vitamin D (25-OHD(3)). BMD and vitamin D were not affected by 6months of valproic acid or lamotrigine therapy. Interestingly, valproic acid and lamotrigine, but not carbamazepine, significantly increased osteocalcin, a marker of bone formation. All AEDs almost doubled the parathyroid hormone level, whereas urinary Pyrilinks, a marker of bone resorption, was not affected by those AEDs. These findings suggest that carbamazepine, a hepatic enzyme-inducing drug, decreases BMD.
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Anticonvulsivantes/efectos adversos , Densidad Ósea/efectos de los fármacos , Epilepsia/complicaciones , Adolescente , Adulto , Anticonvulsivantes/uso terapéutico , Biomarcadores , Enfermedades Óseas Metabólicas/inducido químicamente , Calcitriol/sangre , Carbamazepina/efectos adversos , Carbamazepina/uso terapéutico , Epilepsia/tratamiento farmacológico , Femenino , Humanos , Lamotrigina , Estudios Longitudinales , Masculino , Persona de Mediana Edad , Hormona Paratiroidea/sangre , Triazinas/efectos adversos , Triazinas/uso terapéutico , Ácido Valproico/efectos adversos , Ácido Valproico/uso terapéutico , Vitamina D/sangreRESUMEN
Unilateral taste loss is usually observed on the side contralateral to a thalamic infarction, despite gustatory function being represented bilaterally. We report a rare case of bilateral taste loss in a patient with an acute left unilateral thalamic infarction, with unilateral left insular hypometabolism demonstrated by statistical parametric map analysis of PET images. Our observations suggest that the left insular cortex and left ventroposteromedial thalamic nuclei are critical to bilateral gustatory sensation.
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We examined CMT1A duplication of 17p11.2-p12, mutations of PMP22, MPZ (P0), GJB1 (Cx32), EGR2 and NEFL genes in 57 Korean families with patients diagnosed as having Charcot-Marie-Tooth (CMT) disease. The CMT1A duplication was present in 53.6% of 28 CMT type 1 patients. In the 42 CMT families without CMT1A duplication, 10 pathogenic mutations were found in 9 families. The 10 mutations were not detected in 105 healthy controls. Seven mutations (c.318delT (p.Ala106fs) in PMP22, c.352G>A (p.Asp118Asn), c.449-1G>T (3'-splice site), c.706A>G (p.Lys236Glu) in MPZ, c.407T>C (p.Val136Ala)[corrected], c.502T>C (p.Cys168Arg) in GJB1, and c.1001T>C (p.Leu334Pro) in NEFL) were determined to be novel. The mutation frequencies of PMP22 and MPZ were similar to those found in several European populations, however, it appeared that mutations in GJB1 are less frequent in East Asian CMT patients than in Eur opean patients. We described the identified mutations and phenotype-genotype correlations based on nerve conduction studies.