Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0036572 (seizures)
 80,221 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The clinical and biochemical data on 13 patients with Batten's syndrome are described. Clinically the disease was characterized by progressive maental and somatic deterioration. Initially, vision loss was found between the ages 4 and 8 years. This was associated with 1 or 2 years of normal school attendance followed by attendance at a school for mentally retarded from the age of 8 to 11; then warding was established at a school for blind children and later on a hospital for epileptic patients when seizures and mental retardation made hospitalization necessary. Biochemically, an increased peroxidation rate was revealed in peripheral thrombocytes. This abnormality was associated with a significant decrease in peroxidase activity of leucocytes assayable with p-phenylenediamine, but not with Guajacol. The peroxidase defect seemed to concern an azide-resistant peroxidase. However, in serum the glutathione peroxidase was only found insignificantly decreased.
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PMID:Clinical, social and biochemical studies on Batten's syndrome, alias Spielmeyer-Vogot or Stengel's Syndrome. 87 40

EEG, ERG, and VEP studies were carried out in 60 children with verified neuronal storage of ceroid/lipofuscin-like material. Comparing and contrasting the EEG/ERG/VER features of each child during the symptomatic phase of the disease, three distinct main groups could be recognised: (1) Progressive diminution in amplitude of the EEG and VEP beginning about the age of 2 years was seen in seven children, and all phasic cerebral activity was unrecordable at 3-4 years of age; the clinical onset with regression in skills began at 1-2 years of age; (2) Large amplitude irregular slow activity and polyphasic spikes appeared in 27 children in whom characteristic discharges were elicited at low rates of photic stimulation (grossly enlarged VEP); the clinical onset was around 3 years of age with an occasional seizure and some clumsiness; (3) Runs of slow wave and spike complexes were seen in the EEG of 10 children with a small or absent VEP; the clinical onset with visual failure began around 5-7 years of age. In the remaining 16 children, the EEG and the clinical features fell into much smaller groups, possibly of rarer type. The ERG became unrecordable at an early symptomatic phase in all 60 children. The present findings suggest that such umbrella terms as neuronal ceroid lipofuscinosis or Batten's disease, which imply a single disease entity, are misleading. Neurophysiological investigations can help in early identification of these separate conditions. When the biochemical basis of these disorders becomes fully understood a more rational nomenclature will be possible.
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PMID:So-called neuronal ceroid lipofuscinosis. Neurophysiological studies in 60 children. 87 9

Spielmeyer-Vogt-disease (juvenile neuronal ceroid-lipofuscinosis, Batten's disease) is one of a group of severe inherited neurodegenerative disorders called neuronal ceroid-lipofuscinosis, being characterized by accumulation of ceroid-lipofuscin within different organs of the body. A patient is described who developed visual, intellectual and motor deterioration as well as recurrent seizures during an observation period of 21 years. At the age of ten years vacuoles and "fingerprint-profiles" in lymphocytes and "fingerprint-profiles" beside "curvilinear bodies" in dermal cells lead to the diagnosis juvenile neuronal ceroid-lipofuscinosis. Clinical assessment of vision, intellect, language, motor function and epilepsy established a scoring system. The practicability of this scoring system is documented by the particularly poor clinical course of the disease over 21 years in our patient. Since there is no causal therapy the continuous care by the pediatrician for the whole family is of great importance.
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PMID:[Follow-up of Spielmeyer-Vogt disease over 21 years]. 158 49

Neuronal ceroid lipofuscinosis (NCL, Batten disease) is an autosomal recessive disease characterized by progressive mental retardation, cortical atrophy, seizures, and retinal degeneration. Several subtypes have been delineated on the basis of age-at-onset and histological characteristics; the most common is the juvenile (JNCL) form. Recently, the gene for JNCL was shown to reside on chromosome 16 through linkage studies to the haptoglobin locus and anonymous DNA markers using numerous European families. We have now examined 8 families from North America with JNCL for linkage to markers in 16q21-23. Results in 3 families tend to support linkage to chromosome 16;3 families remained uninformative, and 2 families produced negative lod scores in this region. A test of homogeneity was suggestive, but could not significantly reject the null hypothesis of homogeneity. We are continuing to collect families, particularly those with multiple living affecteds, and are identifying other probes in this region. Given close localization on chromosome 16 for JNCL, molecular strategies, including candidate gene strategies, are being explored.
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PMID:Linkage analysis in juvenile neuronal ceroid lipofuscinosis. 160 35

Juvenile ceroid lipofuscinosis, or Batten disease, is a hereditary disorder characterized by progressive visual loss, seizures, cognitive and psychomotor deterioration, and early death, usually between 15 and 35 years of age. Individuals with this disease have massive deposits of autofluorescent inclusion bodies in cells of most tissues. The accumulation of these intracellular deposits suggests that juvenile ceroid-lipofuscinosis is a storage disease resulting from the inability of cells to metabolize some normal cellular constituent. It has been reported that the storage material is largely protein, much of which is a specific mitochondrial protein that apparently is not properly metabolized in subjects with Batten disease. The storage bodies were partially purified from the retinas of two siblings who died as a result of juvenile ceroid lipofuscinosis, as well as from the cerebral cortex of an unrelated individual with this disorder. Chromatographic analysis of storage body protein acid hydrolysates indicated that they contained a large amount of the modified amino acid epsilon-N-trimethyllysine. The abundance of this amino acid in the storage protein suggests that the disease may result from excessive methylation or from a failure to demethylate intermediate forms of the stored proteins. Acid hydrolysis also solubilized a fluorescent component from the retinal storage material, suggesting that the stored protein has a bound fluorescent adduct.
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PMID:Juvenile ceroid lipofuscinosis. Evidence for methylated lysine in neural storage body protein. 189 40

We have found a group of individuals with the late infantile, the early juvenile variant, and juvenile neuronal ceroid-lipofuscinosis (NCL) in Newfoundland, an island with a population of 500,000. In the past 25 yr, we have ascertained 44 cases of NCL in 32 sibships: 32 cases of late infantile NCL (LINCL) in 24 sibships, 11 cases of the early juvenile variant in 7 sibships, and one patient with the juvenile form (JNCL). The clinical presentation of the LINCL patients is very characteristic, with onset of seizures at age 2 1/2 to 3 1/2 yr, frequently with drop attacks and myoclonic jerks, followed by mental deterioration, ataxia, visual loss, and death by the end of the first decade. Typical curvilinear profiles are seen on electron microscopy (EM). The second group of patients mainly have the early juvenile variant with onset of seizures at age 5 to 6 yr and fingerprint profiles with occasional curvilinear profiles on EM. However, a child with the juvenile form presenting with blindness was also encountered. In both of these types, death occurs in the second decade of life. There is no overlap of these three clinical forms within sibships, although both late infantile and early juvenile variant types may occur in the same small fishing village. All three forms appear to be inherited as autosomal recessive traits. Although the early juvenile variant has been postulated to represent a double heterozygote between LINCL and JNCL, this cannot be confirmed on the basis of the present study.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:The Newfoundland aggregate of neuronal ceroid-lipofuscinosis. 314 10

The clinical courses of 17 JNCL patients were analyzed retrospectively with the use of a simple, disease-specific scoring system. The mean observation period was 14 years (range 8-18 years). Scores of 0 (maximal dysfunction) to 3 (normal function) were assigned to each patient's vision, intellect, language, motor function, and epilepsy for each year of observation. The lapse of medians and ranges of all patients' scores were established from age 3 to 20 years. This scoring system allowed quantitative description of an individual course in context of the wide natural variability of the disease. Patients with seizures starting before the age of 10 years tended to have intractable epilepsy, to receive multiple antiepileptic drug therapies, and to have poor courses including problems not related to epilepsy. One patient had a course clearly outside the usual variability of JNCL and is thought to represent a genetic variant.
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PMID:Juvenile neuronal ceroid lipofuscinosis (JNCL): quantitative description of its clinical variability. 320 22

Batten disease (also known as juvenile neuronal ceroid lipofuscinosis) is a recessively inherited neurodegenerative disorder of childhood characterized by progressive loss of vision, seizures, and psychomotor disturbances. The Batten disease gene, CLN3, maps to chromosome 16p12.1. The so-called 56 chromosome haplotype defined by alleles at the D16S299 and D16S298 loci is shared by 73% of Batten disease chromosomes. Exon amplification of a cosmid containing D16S298 has yielded a candidate gene that is disrupted by a 1 kb genomic deletion in all patients carrying the 56 chromosome. Two separate deletions and a point mutation altering a splice site in three unrelated families have confirmed the candidate as the CLN3 gene. The disease gene encodes a novel 438 amino acid protein of unknown function.
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PMID:Isolation of a novel gene underlying Batten disease, CLN3. The International Batten Disease Consortium. 755 55

One of the characteristic manifestations of chronic neuronal lipofuscinosis (Batten disease) is a marked predisposition for epileptic seizures. The management of these seizures is very difficult. The present study was initiated to determine what mechanisms could account for the seizure disorder. Tissue was examined from a patient with a history of Batten disease that was histologically verified. Reduced silver and Golgi impregnations were done on the parietal cortex of the patient. There was no evidence of the marked dendritic abnormalities seen in classic epileptic foci. Instead there was marked swelling and dilatation of the axon hillock and initial segment. This finding suggested that inhibition of these pyramidal neurons was markedly attenuated due to disruption of initial segment inhibitory synapses. Studies are continuing to determine if the GABA decreases seen in Batten disease may in part be due to trophic sequences brought about by loss of these critical inhibitory synapses.
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PMID:Cellular distribution of lesions in Batten disease. 766 29

Batten disease, or the juvenile form of neuronal ceroid lipofuscinosis, is an autosomal recessive neurodegenerative disorder manifesting with progressive blindness, seizures, and dementia, leading to an early death. The CLN3 locus which is involved in Batten disease had been localized to chromosome 16p11.2. Linkage disequilibrium has been observed between CLN3 and polymorphic microsatellite markers D16S288, D16S299, and D16S298, making carrier detection and prenatal diagnosis by haplotype analysis possible. For the purpose of carrier detection, haplotypes from Dutch Batten patients and their families were constructed. Most patients share the same D16S298 allele, suggesting the presence of a founder effect in the Dutch population. In a large inbred Dutch family, in which Batten disease occurs with high frequency, haplotype analysis has been carried out with high accuracy for carrier detection.
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PMID:Carrier detection of Batten disease (juvenile neuronal ceroid-lipofuscinosis). 766 58


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