Genetic heterogeneity in neuronal ceroid lipofuscinosis ( NCL ) : evidence that the late infantile subtype ( jansky bielschowsky disease … (1993 Oct)
genetic heterogeneity in neuronal ceroid lipofuscinosis ( NCL ) : evidence that the late infantile subtype ( jansky bielschowsky disease ; CLN2 ) is not an allelic form of the juvenile or infantile subtypes . The neuronal ceroid lipofuscinoses ( NCLs ) are a group of inherited neurodegenerative disorders characterized by the accumulation of autofluorescent lipopigment in neurons and other cell types . inheritance is autosomal recessive . three main childhood subtypes are recognized : infantile ( haltia santavuori disease ; MIM 256743 ) , late infantile ( jansky bielschowsky disease ; MIM 204500 ) , and juvenile ( spielmeyer sjögren Vogt , or batten , disease ; MIM 204200 ) . The gene loci for the juvenile ( CLN3 ) and infantile ( CLN1 ) types have been mapped to human chromosomes 16p and 1p , respectively , by linkage analysis . linkage analysis of 25 families segregating for late infantile NCL has excluded these regions as the site of this disease locus ( CLN2 ) . The three childhood subtypes of NCL therefore arise from mutations at distinct loci .

The value of positron emission tomography in the diagnosis and monitoring of late infantile and juvenile lipopigment storage disorders ( … (1997 Aug)
The value of positron emission tomography in the diagnosis and monitoring of late infantile and juvenile lipopigment storage disorders ( so called batten or neuronal ceroid lipofuscinoses ) . positron emission tomography ( PET ) with 2 deoxy 2 18F fluoro D glucose provides a measure of functional brain activity , particularly in the dendritic field . In CLN3 ( juvenile neuronal ceroid lipofuscinosis or juvenile batten disease , with fingerprint inclusions ) hypometabolism slowly spreads from calcarine to anterior areas , sparing subcortical structures and brainstem . In CLN2 ( late infantile neuronal ceroid lipofuscinosis or jansky bielschowsky disease , with curvilinear inclusions ) degeneration is rapid with generalized cortical and subcortical hypometabolism . This is associated with rapidly progressive cerebral atrophy on anatomical neuroimaging . A 4 year old child with CLN2 scanned with PET 13 months after the clinical onset showed hypometabolism , severe in the thalamus and mild in cortical areas . three other patients with CLN2 had severe generalized hypometabolism and brain atrophy . longitudinal PET studies in CLN may provide key insights into degenerative processes .

A variant form of late infantile neuronal ceroid lipofuscinosis ( CLN5 ) is not an allelic form of batten ( … (1994 Aug)
A variant form of late infantile neuronal ceroid lipofuscinosis ( CLN5 ) is not an allelic form of batten ( spielmeyer Vogt sjögren , CLN3 ) disease : exclusion of linkage to the CLN3 region of chromosome 16 . The neuronal ceroid lipofuscinoses ( NCLs ) are a group of inherited neurodegenerative disorders characterized by the accumulation of autofluorescent lipopigment in neurons and other cell types . The biochemical basis of these diseases is unknown . three main childhood forms are recognized : infantile ( santavuori haltia disease , CLN1 ) , late infantile ( jansky bielschowsky disease , CLN2 ) , and juvenile ( spielmeyer Vogt sjögren , batten disease , CLN3 ) . The CLN1 gene has been mapped to chromosome 1p and CLN3 to chromosome 16p by linkage analysis ( 1 , 2 ) . The gene locus causing the classical late infantile form ( CLN2 ) has not yet been mapped but has been excluded from both CLN1 and CLN3 loci ( 8 ) . about 10 of NCL cases have atypical clinical features with most of these resembling the late infantile form .

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 ) .

Molecular genetics of the neuronal ceroid lipofuscinoses. (1999 Aug)
molecular genetics of the neuronal ceroid lipofuscinoses . The neuronal ceroid lipofuscinoses ( NCLs ) are a group of inherited neurodegenerative disorders characterised by the accumulation of autofluorescent storage material in neurons and other cell types . The clinical features include visual impairment , progressive myoclonic epilepsy , and cognitive decline reflecting progressive neurodegeneration . The NCLs are subdivided into several subtypes according to age of onset , clinical course , and ultrastructure of the storage material . The molecular genetic basis of this group of disorders has recently been clarified . mutations in the gene encoding a lysosomal enzyme , palmitoyl protein thioesterase ( PPT ) , cause infantile NCL ( locus CLN1 on chromosome 1p32 ) or haltia santavuori disease . This finnish disease is characterised ultrastructurally by granular osmiophilic deposits ( grods ) . juvenile onset NCL with grods also is caused by mutations in PPT . classic late infantile NCL ( jansky bielschowsky disease ) is caused by mutations in a gene encoding a pepstatin insensitive lysosomal peptidase ( CLN2 on chromosome 11p15 ) , and juvenile onset NCL ( batten disease ) is caused by mutations in a gene encoding a 438 amino acid membrane protein ( CLN3 on chromosome 16p12 ) of unknown function . A locus for finnish variant late infantile NCL , CLN5 , has been mapped to chromosome 13q22 and a locus for variant late infantile NCL , CLN6 , to chromosome 15q21 23 . these and further advances will allow …

Recent advances in the molecular genetics of the neuronal ceroid lipofuscinoses. (1996 Nov)
recent advances in the molecular genetics of the neuronal ceroid lipofuscinoses . major advances in the molecular genetic analysis of the neuronal ceroid lipofuscinoses ( NCL ) have recently been made : the genes for two major types have been identified and the chromosomal location for a third defined . CLN1 , the gene for infantile NCL ( santavuori haltia disease ) encodes palmitoyl protein thioesterase ( PPT ) . Most patients ( 75 of disease chromosomes ) have the same point mutation . In contrast , CLN3 , the gene for juvenile NCL ( batten or spielmeyer Vogt sjögren disease ) is not a previously known gene , nor does its product display homology to any previously described proteins . The same 1 kb genomic deletion is present in the majority of patients ( 81 of disease chromosomes ) . CLN5 , the gene for finnish variant late infantile NCL , has been mapped to 13q and should be identified in the near future . The gene for late infantile NCL ( jansky bielschowsky disease ) has not yet been localized to a chromosome despite intensive research . It is likely that this type of NCL is caused by mutations in more than one gene each resulting in the same phenotype .

Molecular genetic analysis of neuronal ceroid lipofuscinosis. (2002 Apr)
molecular genetic analysis of neuronal ceroid lipofuscinosis . The neuronal ceroid lipofuscinoses comprise a group of inherited neurodegenerative disorders characterized by the accumulation of autoflourescent lipopigment in neurones and other cell types . three main childhood sub types occur : infantile ( haltia santavouri disease , locus CLN1 ) , late infantile ( jansky bielschowsky disease , locus CLN2 ) and juvenile ( spielmeyer sjogren Vogt , batten disease , locus CLN3 ) . inheritance is autosomal recessive . The basic biochemical defect remains unknown . The infantile disease iocus ( CLN1 ) has been mapped to human chromosome 1p32 and the juvenile disease iocus ( CLN3 ) to human chromosome 16p12 by linkage analysis . marker loci in strong allelic association with the disease loci have been identified in each case and haplotype analysis suggests a founder mutation for CLN1 and CLN3 . classical late infantile disease ( CLN2 ) has been shown not to be an allelic variant of either CLN1 or CLN3 . identification of linked markers has provided a new method for pre natal diagnosis . Work is in progress to clone CLN1 and CLN3 and to map CLN2 . This will allow elucidation of the molecular genetic basis of the neuronal ceroid lipofuscinoses .