myelin-basic-protein and Syndrome

We report here an infant with 18q deletion syndrome, and intractable apneic seizures. He had intrauterine growth retardation and dysmorphic features. Chromosomal analysis demonstrated mosaicism of 18q interstitial deletion (q12.3-q22.3). From the age of 3 months, apneic attacks occurred from once a week to over 10 times a day despite many oral antiepileptic agents, and were diagnosed as complex partial seizures. Ictal electroencephalogram and 18F-fluorodeoxyglucose-positron emission tomography at the age of 10 months identified the epileptic focus in the right parieto-temporal region. He also had severe psychomotor retardation. Head MRI examination revealed diffuse cerebral atrophy and severe white matter dysmyelination, which was caused by the deletion of myelin basic protein gene at the locus of 18q22.3. This locus may be responsible for the clinical manifestations of 18q deletion syndrome. Detailed description of the onset, seizure types, and prognosis of epilepsy associated with 18q deletion syndrome is rare. It was suggested that the locus of 18q21.3-q22.3 was responsible for autonomic seizures in 18q deletion syndrome.

Topics: Apnea; Brain Diseases; Chromosome Deletion; Chromosomes, Human, Pair 18; Demyelinating Diseases; Epilepsy, Complex Partial; Gene Deletion; Humans; Infant; Infant, Newborn; Male; Myelin Basic Protein; Syndrome

Anti-myelin basic protein (MBP) antibodies in pediatric-onset MS and controls were characterized. Serum samples were obtained from 94 children with MS and 106 controls. Paired CSF and serum were obtained from 25 children with MS at time of their initial episode of acute demyelinating syndrome (ADS). Complementary assays were applied across samples to evaluate the presence, and the physical binding properties, of anti-MBP antibodies. While the prevalence and titers of serum anti-MBP antibodies against both immature and mature forms of MBP were similar in children with MS and in controls, binding characteristics and formal Surface Plasmon Resonance (SPR) studies indicated surprisingly high binding affinities of all pediatric anti-MBP antibodies. Serum levels of anti-MBP antibodies correlated significantly with their CSF levels, and their presence in children with MS was associated with significantly increased risk of an acute disseminated encephalomyelitis-like initial clinical presentation. While antibodies to both immature and mature forms of MBP can be present as part of the normal pediatric humoral repertoire, these anti-myelin antibodies are of surprisingly high affinity, can access the CNS during inflammation, and have the capacity to modulate disease expression. Our findings identify an immune mechanism that could contribute to the observed heterogeneity in spectrum of clinical presentations in early-onset MS.

Topics: Acute Disease; Adolescent; Autoantibodies; Biomarkers; Child; Child, Preschool; Female; Humans; Infant; Male; Multiple Sclerosis; Myelin Basic Protein; Myelin Sheath; Nerve Tissue Proteins; Risk Factors; Syndrome; Transcription Factors; Young Adult

To explore the immunological pathogenesis of multiple sclerosis (MS) patients of different TCM syndrome types.. Fifty-nine MS patients were assigned to two types by syndrome typing according to their clinical manifestations, the Gan-Shen yin-deficiency (GSYD, 40 cases) type and the both yin-yang deficiency (YYD, 19 cases) type. Difference of patients' age of first attack, times of relapsing, duration of disease, MRI finding and evoked potential between the two groups were compared. The immunology indexes were also compared in part of the patients (26 cases in GSYD type and 12 cases in YYD type).. The age of first attack was later (P < 0.01), level of myelin basic protein in cerebrospinal fluid was higher (P < 0.05), in the YYD type than those in the GSYD type. Besides, the relapsing time in GSYD type, and the blood-brain barrier index and level of myelin basic protein in YYD type showed an ascending trend (P = 0.056, 0.074, 0.093, respectively).. Immunological difference exists between the MS patients of GSYD type and those of YYD type.

Topics: Adolescent; Adult; Child; Diagnosis, Differential; Drugs, Chinese Herbal; Female; Humans; Male; Medicine, Chinese Traditional; Middle Aged; Multiple Sclerosis; Myelin Basic Protein; Nerve Tissue Proteins; Phytotherapy; Syndrome; Transcription Factors; Yang Deficiency; Yin Deficiency; Young Adult

Detailed description of Raynaud's syndrome (RS) dates back to the 19th century; nevertheless, this problem is still topical because of high prevalence of the syndrome (4 to 5% of population), and the fact that different specialists have to deal with it. The authors of the article studied clinical, immunological, and electrophysiological peculiarities of 103 patients with RS, both primary and secondary one. The examination included measurement of the level of antibodies to nerve growth factor (NGF) and myeline basic protein (MBP) and electroneuromyography. All the subjects displayed significant elevation of serum titer of MBP and NGF antibodies, and lowered peripheral nerve impulse conduction velocity (ICV). There was a direct correlation between antibody titer and the severity of the disease, and inverse correlation between ICV of sensory nervous fibers and the severity of the disease. Thus, RS is almost always associated with peripheral sensory fiber pathology, whose clinical manifestation consists in demyelinating polyneuropathy of autoimmune origin; the more prominent demyelinization, the higher the degree of disease severity.

Topics: Adult; Autoantibodies; Disease Progression; Electromyography; Female; Humans; Male; Microcirculation; Muscle Contraction; Myelin Basic Protein; Nerve Growth Factor; Peripheral Nerves; Prognosis; Raynaud Disease; Sensation; Severity of Illness Index; Syndrome

The 18q- deletion syndrome (18qDS) is frequently associated with cardiac anomalies. Patients with this syndrome may also have epilepsy, which presents certain diagnostic difficulties. This case report aims to illustrate these diagnostic problems, document the usefulness of heart rate-based seizure detection algorithms in this setting, and define the epilepsy syndrome associated with 18qDS.. Closed-circuit video electroencephalogram (EEG) monitoring using a heart rate-based seizure detection software was used to identify the event in question and to establish the diagnosis of epilepsy. Chromosomal analysis and magnetic resonance imaging (MRI) were used to further define the epilepsy syndrome.. We report on a patient with an atrial septal defect, enlargement of the right heart, and incomplete right bundle branch block, who developed episodes of tachycardia, loss of consciousness, and pallor, for which he was amnesic. Chromosomal analysis demonstrated karyotype 46,XY,del(18)(q21.3). ish del(18)(wcp18+,D18Z1+) with a loss of the gene for myelin basic protein. MRI revealed multifocal dysmyelination. Video-EEG monitoring using an electrocardiogram (ECG)-triggered seizure detection software proved to be indispensable in detecting an autonomic seizure and establishing the correct diagnosis; the procedure also allowed for the definition of the epilepsy syndrome. The patient was treated with carbamazepine and remained seizure-free.. Video-EEG monitoring using a heart rate-based seizure detection software can be helpful in diagnostically differentiating autonomic seizures from syncope. Dysmyelination due to loss of the myelin basic protein gene on 18q and cortical dysgenesis may be of pathogenic relevance.

Topics: Adult; Autonomic Nervous System Diseases; Chromosome Deletion; Chromosome Mapping; Chromosomes, Human, Pair 18; Demyelinating Diseases; Diagnosis, Differential; Electrocardiography; Electroencephalography; Epilepsy; Heart Defects, Congenital; Humans; Magnetic Resonance Imaging; Male; Monitoring, Physiologic; Myelin Basic Protein; Syncope; Syndrome; Videotape Recording

Topics: Brain; Brain Diseases; Chromosome Deletion; Chromosomes, Human, Pair 18; Demyelinating Diseases; Humans; Magnetic Resonance Imaging; Myelin Basic Protein; Syndrome

Topics: Brain; Brain Diseases; Chromosome Deletion; Chromosomes, Human, Pair 18; Demyelinating Diseases; Humans; Magnetic Resonance Imaging; Myelin Basic Protein; Syndrome

Magnetic resonance imaging (MRI) and MRI relaxometry were used to investigate disturbed brain myelination in 18q- syndrome, a disorder characterized by mental retardation, dysmorphic features, and growth failure. T1-weighted and dual spin-echo T2-weighted MR images were obtained, and T1 and T2 parametric image maps were created for 20 patients and 12 controls. MRI demonstrated abnormal brain white matter in all patients. White matter T1 and T2 relaxation times were significantly prolonged in patients compared to controls at all ages studied, suggesting incomplete myelination. Chromosome analysis using fluorescence in situ hybridization techniques showed that all patients with abnormal MRI scans and prolonged white matter T1 and T2 relaxation times were missing one copy of the myelin basic protein (MBP) gene. The one patient with normal-appearing white matter and normal white matter T1 and T2 relaxation times possessed two copies of the MBP gene. MRI and molecular genetic data suggest that incomplete cerebral myelination in 18q- is associated with haploinsufficiency of the gene for MBP.

Topics: Abnormalities, Multiple; Adolescent; Brain; Brain Diseases, Metabolic; Child; Child, Preschool; Chromosome Aberrations; Chromosome Deletion; Chromosome Disorders; Chromosomes, Human, Pair 18; Female; Gene Deletion; Humans; In Situ Hybridization, Fluorescence; Infant; Magnetic Resonance Imaging; Male; Myelin Basic Protein; Myelin Sheath; Polymerase Chain Reaction; Syndrome

Topics: Abnormalities, Multiple; Animals; Chromosome Mapping; Crosses, Genetic; Genes; Humans; Mice; Mice, Inbred C57BL; Muridae; Myelin Basic Protein; Polymorphism, Restriction Fragment Length; Receptors, Galanin; Receptors, Gastrointestinal Hormone; Species Specificity; Syndrome

We investigated the ultrastructural characteristics and the granule major basic protein (MBP) content of hypodense eosinophils from patients with the hypereosinophilic syndrome who had at least 90% hypodense eosinophils in their peripheral blood and compared these cells to normodense eosinophils from normal persons. The hypodense cells (density less than 1.082) contained significantly less MBP than normodense (density greater than 1.082) eosinophils (P less than .001) as measured by radioimmunoassay (RIA). Electron microscopic examination demonstrated a mean of 25.0 +/- 4.4 (X +/- 1 SD) granules per hypodense cell, compared to 30.6 +/- 8.4 granules per cell in the normodense group (P less than .1). The most striking difference between the hypodense and normodense eosinophils was the small individual granule size (X = .14 +/- .05 v .26 +/- .05 micron 2, respectively, P less than .001), and the smaller total granule area (3.2 +/- 1.8 vs 7.7 +/- 3.1 micron 2, respectively, P less than .001). Because the cytoplasmic areas were similar in the two groups, the mean percent area of cytoplasm occupied by granules was significantly lower in the hypodense group (P less than .001). The finding of consistently smaller granules in the presence of equal or fewer granules per cell in the hypodense eosinophils may explain the lower MBP content and thus provide a morphologic basis for the low density of eosinophils in patients with the hypereosinophilic syndrome.

Topics: Densitometry; Eosinophilia; Eosinophils; Humans; Microscopy, Electron; Myelin Basic Protein; Syndrome

Topics: Ataxia; Humans; Male; Middle Aged; Myelin Basic Protein; Ophthalmoplegia; Reflex, Abnormal; Syndrome

Regarding immunopathogenesis of the Vogt-Koyanagi-Harada syndrome (VKHS), peripheral blood lymphocytes of a female patient with this disease were tested for sensitization against several antigens such as myelinic basic protein (BP) and uveoretinal, brain and spleen tissue homogenates. For comparison, cells of seven patients with chorioretinitis only and cells of six patients with encephalitis of unknown etiology were also tested. Cells of healthy donors served as controls. The electromobility test and the leucocyte migration test were used as in vitro test systems for cell-mediated immunological reactivity. The results show a strong sensitivity against BP and uveoretinal and brain tissue homogenates in VKHS. In the patients suffering from chorioretinitis, a strong reactivity against uveoretinal homogenate only was found, while in patients with encephalitis, responses to brain antigens only were observed. Reactions towards spleen tissue homogenate were negative in all experiments. The extent to which this tissue-specific immunological reactivity, which is different from the monoreactivity in chorioretinitis or encephalitis, might be a characteristic phenomenon of the VKHS is discussed.

Topics: Eye Proteins; Female; Humans; Immunity, Cellular; Immunologic Techniques; In Vitro Techniques; Lymphocytes; Middle Aged; Myelin Basic Protein; Neurologic Manifestations; Optic Nerve Diseases; Skin Diseases; Syndrome; Uveitis, Anterior