The electron microscopic study of the appendix as early diagnostic means in batten spielmeyer Vogt disease. (1972 Oct)
The electron microscopic study of the appendix as early diagnostic means in batten spielmeyer Vogt disease .

Additional electron microscopic observations on two cases of batten spielmeyer Vogt disease. (1971 Apr)
additional electron microscopic observations on two cases of batten spielmeyer Vogt disease . ( neuronal ceroid lipofuscinosis ) .

Non corneal closed eye electroretinography in healthy persons and in patients with neuronal ceroid lipofuscinosis ( stengel batten spielmeyer Vogt … (1982 Feb)
Non corneal closed eye electroretinography in healthy persons and in patients with neuronal ceroid lipofuscinosis ( stengel batten spielmeyer Vogt disease ) . Non corneal closed eye ERG was recorded with surface skin electrodes in 22 healthy subjects and in 7 patients with neuronal ceroid lipofuscinosis ( stengel batten spielmeyer Vogt disease ) . Non corneal closed eye ERG was present in all normal subjects and the records comprised all the main subcomponents reported in the conventional corneal ERG . while the latencies of the a and b waves in the normal subjects differed but slightly from those reported from corneal ERGs , the amplitudes were reduced in the non corneal closed eye ERG . The parameters of the non corneal closed eye ERGs in the healthy subjects differed but slightly from those reported on non corneal open eye ERGs . When applied on patients with neuronal ceroid lipofuscinosis , the method proved clinically tenable and no sedation was required . The records show that ERG was absent in all but one of the patients tested .

Caenorhabditis elegans homologues of the CLN3 gene , mutated in juvenile neuronal ceroid lipofuscinosis. (2001 Oct)
caenorhabditis elegans homologues of the CLN3 gene , mutated in juvenile neuronal ceroid lipofuscinosis . neuronal ceroid lipofuscinoses ( NCLs ) are the most common hereditary neurodegenerative disorders of childhood . The first symptom of this heterogeneous group of devastating lysosomal storage diseases is progressive visual failure . The different forms of NCL can be distinguished by age of onset , clinical features and the characteristics of the accumulated materials . The juvenile form , batten spielmeyer Vogt disease which is caused by mutations in the CLN3 gene , is the most frequent form of the disease in which loss of vision becomes apparent around the age of 5 8 years . The gene was found to encode a novel integral membrane protein localizing to the lysosomes , confirming that the primary defect in NCL is in lysosomal function . The CLN3 protein function is still unknown , and is examined in several model organisms . We are studying the nematode caenorhabditis elegans , and have identified three CLN3 homologues . In order to investigate the role of the CLN3 protein in C . elegans , cecln 3 deletion mutants are being isolated from an ethyl methanesulphonate ( EMS ) induced deletion mutant library . examination of these mutants may provide us with information that will help in dissecting the processes in which the CLN3 protein is involved . In this library two mutated C . elegans Cln 3 loci have been identified , of which one mutant , nl748 …

Deletion of the caenorhabditis elegans homologues of the CLN3 gene , involved in human juvenile neuronal ceroid lipofuscinosis , causes … (2006 Jan)
deletion of the caenorhabditis elegans homologues of the CLN3 gene , involved in human juvenile neuronal ceroid lipofuscinosis , causes a mild progeric phenotype . The CLN3 gene is involved in juvenile neuronal ceroid lipofuscinosis ( JNCL ) , or batten spielmeyer Vogt disease , a severe hereditary neurodegenerative lysosomal storage disorder characterized by progressive disease pathology , with loss of vision as the first symptom . another characteristic of JNCL is the lysosomal accumulation of autofluorescent lipopigments , forming fingerprint storage patterns visible by electron microscopy . The function of the CLN3 protein is still unknown , although the evolutionarily conserved CLN3 protein is being functionally analysed using different experimental models . We have explored the potential of the nematode caenorhabditis elegans as a model for batten disease in order to bridge the gap between the unicellular yeast and very complex mouse JNCL models . C . elegans has three genes homologous to CLN3 , for each of which deletion mutants were isolated . Cln 3 . 1 deletion mutants have a decreased lifespan , and cln 3 . 2 deletion mutants a decreased brood size . however , the neuronal or movement defects and aberrant lipopigment distribution or accumulation observed in JNCL were not found in the worms . To detect possible redundancy , single deletion mutants were crossed to obtain double and triple mutants , which were viable but showed no JNCL specific defects . The cln 3 triple mutants show a more prominent decrease in lifespan …

Thyroid peroxidase deficiency in batten spielmeyer Vogt disease. (1975 Sep)
thyroid peroxidase deficiency in batten spielmeyer Vogt disease . thyroid tissue from two patients with batten spielmeyer Vogt disease ( BSV ) was studied for peroxidase enzyme activity and for morphological abnormalities by light and electron microscopy . diagnosis was confirmed by the demonstration of intracytoplasmic material identical to that described in other reported cases of BSV . there was a substantial decrease in peroxidase activity in the thyroid tissue from both patients . An abnormally low level of peroxidase activity had previously been demonstrated in the white blood cells of these patients . thyroid biopsy offers obvious advantages over brain biopsy , provides adequate tissue for enzyme analysis , and allows the demonstration of the intracytoplasmic structures characteristic of BSV .

Sea blue histiocytes in marrow in batten spielmeyer Vogt disease. (1975 May)
Sea blue histiocytes in marrow in batten spielmeyer Vogt disease .

Peripheral nerve changes in Tay sachs and batten spielmeyer Vogt disease. (1968 Apr)
peripheral nerve changes in Tay sachs and batten spielmeyer Vogt disease .

Leukocyte peroxidase deficiency in a family with a dominant form of Kuf s disease. (1974 Dec)
leukocyte peroxidase deficiency in a family with a dominant form of Kuf s disease . Use of a spectrophotomtetric assay of peroxidase with p phenylenediamine as cosubstrate demonstrated deficient enzymne activity in leukocytes from two patients with a dominantly inherited form of ceroid lipofuscinosis ( Kuf s disease ) and a clinically hlealthy unaffected sibling . When the reaction was performned in the absence of added hydrogen peroxide , oxidation of the p phenylenediamnine cosubstrate ( indicating the presence of endogenous peroxide ) occurred only with enzyme samnples from the three siblings but not with those from a large number of unrelated , unaffected controls . This demonstrates that the deficiency of peroxide ) found previously in the recessively inherited infantile and juvenile formns of ceroid lipofuscinosis ( batten spielmeyer Vogt disease ) is also present in an adult form with dominant inheritance .

Early structural changes in a case of late infantile amaurotic idiocy ( early form of batten spielmeyer Vogt disease ). (1975 Jan)
early structural changes in a case of late infantile amaurotic idiocy ( early form of batten spielmeyer Vogt disease ) .