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

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 …

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 .

Neuronal ceroid lipofuscinosis in The netherlands II. (1984 Mar)
neuronal ceroid lipofuscinosis in The netherlands II . This paper is a report on neuronal ceroid lipofuscinosis ( NCL ) in The netherlands ( synonyms : batten disease , jansky bielschowsky disease , batten mayou disease , stock spielmeyer Vogt disease ) . discussed are the late infantile type with predominant accumulation of lipofuscin in the form of curvilinear bodies ( jansky bielschowsky ) and the juvenile type with accumulation of lipofuscin in the form of fingerprint and rectilinear profiles ( batten mayou disease and stock spielmeyer Vogt disease or F type of NCL ) .

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 .

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 …

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 .

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 .

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 ) .

Mapping the gene for juvenile onset neuronal ceroid lipofuscinosis to chromosome 16 by linkage analysis. (1992 Jul)
mapping the gene for juvenile onset neuronal ceroid lipofuscinosis to chromosome 16 by linkage analysis . The ceroid lipofuscinoses are a group of inherited neurodegenerative disorders characterised by the accumulation of autofluorescent lipopigment in neurones and other cell types . The underlying biochemical defect is unknown . juvenile onset neuronal ceroid lipofuscinosis ( batten disease ; spielmeyer Vogt disease ) is an autosomal recessive trait . linkage studies were undertaken to determine the location of the batten disease ( CLN3 ) mutation . studies were carried out on 205 members of 42 families in which there were 76 affected individuals . families originated from 7 north european countries and canada . serum samples from 23 families , including a total of 48 affected children , were tested for a set of classical markers . A positive lod score was found with the haptoglobin ( Hp ) system . The combined male and female maximum lod score was 3 . 00 at theta 0 . 00 and theta 0 . 26 , respectively . This provided an indication of localisation to the long arm of chromosome 16 . linkage analysis was then carried out in 42 families using DNA markers for loci on human chromosome 16 . The maximal lod score between batten disease and the locus d16s148 calculated for combined sexes was 6 . 05 . No recombinants were observed . multilocus analysis using 5 loci indicated the most likely order to be HP d16s151 d16s150 CLN3 d16s148 d16s147 . …

Follow up of spielmeyer Vogt disease over 21 years spielmeyer Vogt disease ( juvenile neuronal ceroid lipofuscinosis , batten s … (1992 Jun)
follow up of spielmeyer Vogt disease over 21 years 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 .

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

Full field ERG in patients with batten / spielmeyer Vogt disease caused by mutations in the CLN3 gene. (2000 Sep)
Full field ERG in patients with batten / spielmeyer Vogt disease caused by mutations in the CLN3 gene . purpose : To investigate , using full field ERG , the retinal function in patients with batten / spielmeyer Vogt disease caused by mutations in the CLN ( 3 ) gene . methods : batten disease status of five patients was confirmed by the presence of vacuolated lymphocytes in peripheral blood and the identification of mutations in the batten disease gene ( CLN ( 3 ) ) . visual acuity , fundus appearance , and full field ERG were examined in all patients ( age 4 19 years ) . The examination was repeated in one patient after 16 months . results : three unrelated patients were homozygous for the most common mutation in CLN ( 3 ) , the 1 . 02 kb deletion ; two patients ( sisters ) were heterozygous for the 1 . 02 kb deletion and an as yet unidentified mutation in the CLN ( 3 ) gene . Full field ERG recordings in all five patients demonstrated no rod responses and only small remaining cone responses , which could be detected with 30 Hz flicker stimulation . Re examination of a six year old girl after 16 months revealed a fast progression of the retinal degeneration . conclusion : Full field ERG recordings in batten disease patients , both homozygous and heterozygous for the 1 . 02 kb deletion in the CLN ( 3 ) …

An account of a strange instance of disease stengel batten spielmayer Vogt disease Otto christian stengel s ( 1794 1890 … (2004 Apr)
An account of a strange instance of disease stengel batten spielmayer Vogt disease Otto christian stengel s ( 1794 1890 ) description of four siblings suffering from probable neuronal ceroid lipofuscinosis ( batten disease or spielmeyer Vogt disease ) is one of the few norwegian primary reports of neurological disease . Dr . stengel was a physician in the copper mining town of roeros in norway from 1821 to 1883 . His report was published in norwegian in the first volume of the first norwegian medical journal Eyr in 1826 , 77 years before frederick E . batten ( 1865 1918 ) through his publication in 1903 became internationally renowned for giving the first report of the disease . This article presents the life of Dr . stengel and reviews the findings in his report .

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 ) .

Batten disease ( spielmeyer Vogt disease , juvenile onset neuronal ceroid lipofuscinosis ) gene ( CLN3 ) maps to human … (1991 Jan)
batten disease ( spielmeyer Vogt disease , juvenile onset neuronal ceroid lipofuscinosis ) gene ( CLN3 ) maps to human chromosome 16 . The ceroid lipofuscinoses are a group of inherited neurodegenerative disorders characterized by the accumulation of autofluorescent lipopigment in neurons and other cell types . The underlying biochemical defect is unknown . batten disease ( spielmeyer Vogt disease , juvenile onset neuronal ceroid lipofuscinosis ) displays autosomal recessive inheritance . genetic linkage studies were undertaken to determine the chromosomal location of the batten disease mutation ( CLN3 ) . following identification of linkage to the haptoglobin locus , linkage analysis has been carried out in 42 families by using DNA markers for loci on the long arm of human chromosome 16 . The maximal lod score between batten disease and the locus d16s148 calculated for combined sexes is 6 . 05 at a recombination fraction theta 0 . 00 . multilocus analysis using five loci indicated the most likely order to be HP d16s151 d16s150 CLN3 d16s148 d16s147 . The maximal location score for CLN3 was 48 ( equivalent to a lod score of 10 . 4 ) in that interval within this fixed marker map .