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PubMed1982

Ultrastructure of peripheral lymphocytes in generalized ceroid-lipofuscinosis. Report of a case.

Electron microscopic observation was made on the peripheral blood cells obtained from a 4-year-old boy with generalized ceroid-lipofuscinosis (GCL), and two kinds of significant inclusions were found in the cytoplasm of lymphocytes. One was ceroid-lipofuscin accompanied with the fingerprint pattern, and the other was a lamellar body which showed the concentric lamellar structure or the myelin figure. Ceroid-lipofuscin was found in 40% of peripheral lymphocytes. It is important in diagnosing GCL that ceroid-lipofuscin can be detected with high incidence in lymphocytes of peripheral blood.

Ceroid↗
PubMed2001

Serial MRI findings in the Costa Rican variant of neuronal ceroid-lipofuscinosis.

Widespread cerebral atrophy and basal ganglia involvement are highly suggestive imaging features of the variants of late infantile type neuronal ceroid-lipofuscinosis. In the presence of clinical findings indicative of neuronal ceroid-lipofuscinosis, neuroimaging procedures are highly recommended to differentiate the variants from classic late infantile neuronal ceroid-lipofuscinosis. The clinical features and follow-up magnetic resonance imaging studies in a patient with the Costa Rican variant of late infantile neuronal ceroid-lipofuscinosis is presented. These procedures were of the utmost importance to observe the progression of the neurologic ailment and the extent of the cerebral and cerebellar abnormalities.

Atrophy↗
PubMed1995

Mitochondrial ATP synthase subunit c stored in hereditary ceroid-lipofuscinosis contains trimethyl-lysine.

The subunit c protein of mitochondrial ATP synthase accumulates in lysosomal storage bodies of numerous tissues in human subjects with certain forms of ceroid-lipofuscinosis, a degenerative hereditary disease. Subunit c appears to constitute a major fraction of the total storage-body protein. Lysosomal accumulation of subunit c has also been reported in putative animal models (dogs, sheep and mice) for ceroid-lipofuscinosis. In humans with the juvenile form of the disease, hydrolysates of total storage-body protein have been found to contain significant amounts of epsilon-N-trimethyl-lysine (TML). TML is also abundant in storage-body protein hydrolysates from affected dogs and sheep. These findings suggested that one or both of the two lysine residues of subunit c might be methylated in the stored form of the protein. The normal subunit c protein from mitochondria does not appear to be methylated. In a putative canine model for human juvenile ceroid-lipofuscinosis, residue 43 of the storage-body subunit c was previously found to be TML. In the present study, subunit c was isolated from the storage bodies of humans with juvenile ceroid-lipofuscinosis, and from sheep and mice with apparently analogous diseases. In all three species, partial amino acid sequence analysis of the stored subunit c indicated that the protein contained TML at residue 43. These findings strongly suggest that specific methylation of lysine residue 43 of mitochondrial ATP synthase plays a central role in the lysosomal storage of this protein.

Adolescent↗
PubMed2003

Progress towards understanding the neurobiology of Batten disease or neuronal ceroid lipofuscinosis.

PURPOSE OF REVIEW: The identification of genes mutated in the neuronal ceroid lipofuscinoses has accelerated research into the mechanisms that underlie these fatal autosomal recessive storage disorders, which are often referred to as Batten disease. This review summarizes progress in this field since October 2001, describing advances in cell biology, the characterization of new animal models of neuronal ceroid lipofuscinosis, and the impact of novel methodology to reveal insights into its pathogenesis. RECENT FINDINGS: Gene products for six of the eight forms of neuronal ceroid lipofuscinosis have now been discovered, and concerted efforts are underway to understand the normal biology of each gene product and how this may be altered by mutation. Several lines of evidence point to functions for the CLN genes in the endosomal-lysosomal system, and suggest neuron-specific roles for these proteins. Indeed, a requirement for appropriate protein trafficking within neurons may explain the profound and selective effects of these disorders upon the central nervous system. The development of mouse and large animal models has enabled comparative studies of the progressive effects of disease, including characterization by morphological and biochemical means supplemented by metabonomic and microarray techniques. SUMMARY: Insights into disease mechanisms are building a detailed profile of the impact of neuronal ceroid lipofuscinosis upon the brain. With the eventual aim of developing successful therapeutic strategies, it will be equally important to characterize the clinical progression of the disorder, and to identify quantifiable endpoints that can ultimately be used in clinical trials.

Animals↗
PubMed1990

Gaucher's disease type I. Report of a case with prominent deposition of ceroid in splenic endothelial cells and intestinal smooth muscle fibers.

A case of type I Gaucher's disease in a 39-year-old male is reported. Autopsy showed marked enlargement of the spleen (3,070 g) and infiltration of typical Gaucher's cells in the spleen, liver, bone, marrow, gastrointestinal tract, lymph nodes and adrenal glands. The diagnosis of Gaucher's disease was ascertained by the very low beta-glucosidase activity of cultured subcutaneous fibroblasts and the high content of glucocerebroside in the spleen tissue. A peculiar finding in this case was prominent deposition of brown pigment in endothelial cells of the spleen and smooth muscles fibers of the gastrointestinal tract, urinary bladder and prostate. Histochemical examination revealed that the granules in endothelial cells and smooth muscle fibers were ceroid. Such deposition of ceroid has never been reported previously in Gaucher's disease. Ceroid deposition in generalized smooth muscle fibers is known as brown bowel syndrome, and is highly suggestive of severe vitamin E deficiency. Although other symptoms of vitamin E deficiency were not noticed in this case, some malnutritional condition might play a role in prominent deposition of ceroid in lysosomes, possibly together with deficient activity of a lysosomal enzyme.

Adult↗
PubMed1986

Abnormal excretion of autofluorescent lipids in urine from patients with neuronal ceroid lipofuscinosis.

Two of our 5 patients with neuronal ceroid lipofuscinosis excreted a large amount of autofluorescent lipids in their urine. These autofluorescent lipids consisted of more than 5 bands in the thin-layer-chromatography. Excitation and emission spectra of these lipids showed that they had heterogeneous components. This finding was specific to neuronal ceroid lipofuscinosis, and never found in other neurological diseases. We also measured unesterified dolichol and dolichol fatty acid ester in urine, and 4 of our patients did not excrete a large amount of such compounds compared with control groups. This finding suggest that increased excretion of dolichol in urine of patient with neuronal ceroid lipofuscinosis may be the secondary effect, but there are some possibilities that certain abnormalities in glycoprotein metabolism exist in neuronal ceroid lipofuscinosis.

Chromatography, Thin Layer↗
PubMed1988

Ceroid accumulation by murine peritoneal macrophages exposed to artificial lipoproteins: ultrastructural observations.

Murine resident peritoneal macrophages were maintained in cell culture in a medium containing 10% lipoprotein-deficient fetal calf serum to which various artificial lipoprotein particles (coacervates of lipid and bovine serum albumin) had been added. The uptake and intracellular fate of these particles was studied by electron microscopy. The appearance of material accumulating within the cells varied according to the nature of the lipid component of the ingested particles. Lipids which are readily oxidised (cholesteryl linoleate, cholesteryl arachidonate, trilinolein) were associated with the formation of ceroid within membrane-bound structures. Less readily oxidized lipids (cholesteryl oleate, triolein) were not associated with ceroid accumulation but instead the cells contained numerous nonmembrane-bound lipid inclusions. The appearances of the ceroid within the murine peritoneal macrophages are similar to those of ceroid in macrophages in human atherosclerotic lesions.

Animals↗
PubMed1987

Ceroid accumulation by murine peritoneal macrophages exposed to artificial lipoproteins.

Murine resident peritoneal macrophages were maintained in cell culture in a medium containing 10% lipoprotein-deficient fetal calf serum to which various artificial lipoproteins (lipid-bovine serum albumin complexes) had been added. Ceroid accumulated in cells exposed to artificial lipoproteins containing cholesteryl esters or acylglycerols possessing polyunsaturated fatty acid residues, but not in cells exposed to lipoproteins containing less readily oxidized lipids. Oxidation of cholesteryl linoleate before its incorporation into artificial lipoprotein accelerated ceroid production. Incorporation of free radical scavengers into cholesteryl linoleate-containing artificial lipoproteins impaired ceroid formation. The results are discussed in terms of the mechanisms by which the ceroid might have been produced and its significance for human atherogenesis.

Animals↗
PubMedDate not supplied

Morphometry of age pigment (lipofuscin) and of ceroid pigment deposits associated with vitamin E deficiency.

Consistent amounts of lipofuscin and of ceroid pigment associated with vitamin E deficiency are reported to represent morphological correlates of aging and increased oxidative stress. A reliable quantification of these yellow autofluorescent deposits is of critical biological significance, thus we carried out a computer-assisted morphometric study on the accumulation of lipofuscin in physiological aging and of ceroid pigment in vitamin E deficiency, respectively. The total area and the size distribution of lipofuscin or ceroid pigment deposits were measured in CA3 hippocampal pyramidal neurons of 6-, 12-, 18- and 25-month-old rats, as well as in vitamin E deficient animals of 18 months of age. An increase in the mean total area of lipofuscin and ceroid pigment was found in aging and in vitamin E deficiency. In both conditions, the proportion of large discrete deposits also increased. The similarity of changes observed in old and adult vitamin E deficient animals suggests that the underlying processes initiated by the absence of alpha-tocopherol from the diet of adult rats and in physiological aging may share some common mechanisms.

Journal Article↗
PubMed1988

Ovine ceroid-lipofuscinosis. I: Lipopigment composition is indicative of a lysosomal proteinosis.

The ceroid-lipofuscinoses are inherited lysosomal storage diseases of children and animals characterised by a fluorescent lipopigment stored in a variety of tissues. Defects in lipid metabolism or the control of lipid peroxidation have been postulated to explain their pathogenesis but the underlying biochemical defect is still unknown. In the present study lipopigment was isolated from liver, kidney, pancreas and brain of sheep affected with ceroid-lipofuscinosis. Approximately two-thirds of the lipopigment mass was protein. Sodium dodecyl sulphate polyacrylamide gel electrophoresis showed a major polypeptide band of Mr 14,800, heterogeneous polypeptides between 5,000-9,000 Mr and a major band of Mr 3,500. These were not normal lysosomal proteins. I125 radiolabeling studies indicated that they were 47% of the pancreatic lipopigment mass, the 3,500 Mr polypeptides alone accounting for 26%. Lipopigment polypeptides were not subunits of a larger protein held together by disulphide bonds. The presence of the 3,500 Mr proteins in whole affected tissue homogenates distinguished them from homogenates of normal tissues. Lipopigment phospholipids were the same species as normal lysosomal phospholipids, including bis (monoacylglycero) phosphate, a lysosomal marker. Similarly the neutral lipids, notably dolichol, ubiquinone and dolichyl esters were typical of those in lysosomal membranes. Lipopigments contained 1-1.7% metals. Analyses of them indicated a functional lysosomal origin for the lipopigment. It was concluded that low Mr proteins are specifically stored in ovine ceroid-lipofuscinosis and that this disease is a lysosomal proteinosis.

Animals↗
PubMed1992

Mitochondrial ATP synthase subunit c storage in the ceroid-lipofuscinoses (Batten disease).

The ceroid-lipofuscinoses (Batten disease) are neurodegenerative inherited lysosomal storage diseases of children and animals. A common finding is the occurrence of fluorescent storage bodies (lipopigment) in cells. These have been isolated from tissues of affected sheep. Direct protein sequencing established that the major component is identical to the dicyclohexylcarbodiimide (DCCD) reactive proteolipid, subunit c, of mitochondrial ATP synthase and that this protein accounts for at least 50% of the storage body mass. No other mitochondrial components are stored. Direct sequencing of storage bodies isolated from tissues of children with juvenile and late infantile ceroid-lipofuscinosis established that they also contain large amounts of complete and normal subunit c. It is also stored in the disease in cattle and dogs but is not present in storage bodies from the human infantile form. Subunit c is normally found as part of the mitochondrial ATP synthase complex and accounts for 2-4% of the inner mitochondrial membrane protein. Mitochondria from affected sheep contain normal amounts of this protein. The P1 and P2 genes that code for it are normal as are mRNA levels. Oxidative phosphorylation is also normal. These findings suggest that ovine ceroid-lipofuscinosis is caused by a specific failure in the degradation of subunit c after its normal inclusion into mitochondria, and its consequent abnormal accumulation in lysosomes. This implies a unique pathway for subunit c degradation. It is probable that the human late infantile and juvenile diseases and the disease in cattle and dogs involve lesions in the same pathway.

Amino Acid Sequence↗
PubMed1995

Immunelectronmicroscopic characterization of T4 and T8 lymphocytes and natural killer cells in neuronal ceroid-lipofuscinosis.

CD4+, CD8+, and CD56+ cells were isolated with the immunomagnetic separation technique from peripheral blood mononuclear cells (PBMC) of 3 patients with neuronal ceroid-lipofuscinosis: one patient each with infantile (INCL), late infantile (LINCL), and juvenile (JNCL) neuronal ceroid-lipofuscinoses, all studied by light (LM) and electron (EM) microscopy. To compare the pathology of these cells with affected cells in other types of lysosomal diseases, the separation was also performed with PBMC of 1 patient with mucolipidosis (ML) type II, 2 patients with mucopolysaccharidosis (MPS) type I, and 4 patients with MPS type III. Disease-specific lysosomal inclusions were identified in CD4+, CD8+, and CD56+ cells. Subclass-specific storage products could not be found. T4 and T8 lymphocytes showed nearly the same ratio of affected to nonaffected cells. These results suggest that lysosomal storage can be found in most of the lymphocyte subclasses in these forms of neuronal ceroid-lipofuscinoses and other lysosomal diseases.

Adolescent↗
PubMed1999

Progress in neuropathology of the neuronal ceroid lipofuscinoses.

Since the last, 6th, International Congress on Neuronal Ceroid-Lipofuscinoses, neuropathological advances in neuronal ceroid lipofuscinoses (NCL) have been made in several areas: (1) In adult NCL (ANCL) lipopigments have now been repeatedly confirmed to contain subunit c of mitochondrial ATP synthase and even sphingolipid activators (saposins). ANCL lipopigments have also been confirmed in extracerebral tissues including skin, skeletal muscle, and spleen, but not yet lymphocytes (2). Among circulating blood cells not only B cells and subclasses of T lymphocytes, i.e., CD4(+), CD8(+), and CD56 cells, but also monocytes have been found to contain NCL lipopigments, indicating that this precursor cell in the digesting macrophage system also has an impaired metabolic catabolism for lipopigments (3). Immunohistochemical studies indicate that microglial reaction in NCL brain is limited to resident microglia without contribution by circulating monocytes (4). The granular osmiophilic deposit (GROD) type of NCL has now been established not only in infantile, but also in late-infantile, juvenile, and protracted-juvenile NCL (5). A European Tissue Registry established within the framework of a European Concerted Action on Neuronal Ceroid-Lipofuscinosis may form the basis for additional collaborative studies on NCL, including both biopsy and autopsy tissues.

Brain↗
PubMed1989

Lipid peroxidation and storage of fluorescent products by macrophages in vitro as a model of ceroid-like pigment formation.

Storage of fluorescent products, ceroid-like pigments was observed in P388D1 cells, an established macrophage-like cell line, when the cells were cultured in the presence of rat liver phosphatidylcholine liposomes containing polyunsaturated fatty acids. Some fluorescent products accumulated in the cells were extractable in organic solvents, ethanol/ether (3:1, v/v), while others were insoluble in organic solvents, but soluble in detergent. The fluorescent products dissolved in organic solvents or in detergent had a fluorescence maximum at 430 nm when excited at 360 nm. The formation of the ceroid-like pigments was inhibited, at least in part, by antioxidants, such as alpha-tocopherol and butylated hydroxytoluene (BHT). The fluorescence intensity of the pigments was quenched in alkaline media and restored by adjustment of pH to neutrality. These findings indicate that liposome uptake by macrophages causes the formation of ceroid-like pigments, and that the fluorescent chromophores of the pigments are Schiff base structures derived from the reaction of lipid peroxides from the exogenous phospholipids and subcellular amino compounds.

Animals↗
PubMed1981

A dominant form of neuronal ceroid-lipofuscinosis. An ultrastructural study of sural nerve and peripheral lymphocytes.

The study of the ultrastructure of the sural nerve and peripheral blood lymphocytes of a boy with late-infantile neuronal ceroid-lipofuscinosis revealed the presence of 'curvilinear bodies' and 'fingerprint profiles'. The elder sister of the patient died at the age of 7 years after progressive mental and motor deterioration. The same kind of cytoplasmic inclusions was found in the lymphocytes of the father of these children, who had had epilepsy since the age of 32. Clinical data and the results of the ultrastructural study suggest that in the same family two different forms of ceroid-lipofuscinosis appear and that the disease is inherited as an autosomal dominant trait. This family seems to suggest the nosological unity of clinically different forms of ceroid-lipofuscinosis.

Central Nervous System Diseases↗
PubMed1979

Clinical, morphological, and biochemical investigations on a patient with an unusual form of neuronal ceroid-lipofuscinosis.

A patient with a progressive neurological disorder beginning at the age of three years is described. Mental and visual disturbances were the first signs, soon followed by ataxia and myoclonic jerks. Fundoscopy revealed a decreased pigmentation of the retina. Ultramicroscopic investigations of muscle and skin disclosed the typical changes seen in the late infantile and juvenile forms of neuronal ceroid-lipofuscinosis. In contrast to the clinical and ultrastructural findings, the fatty acid pattern of the serum lecithin showed a significant increase of arachidonic acid and a corresponding decrease of linoleic acid which is characteristic of the so-called infantile form of neuronal ceroid-lipofuscinosis (Hagberg-Santavuori variant; polyunsaturated fatty acid lipidosis). The obvious heterogeneity of the clinical, histological and laboratory findings within the subgroups of neuronal ceroid-lipofuscinosis is briefly discussed.

Ataxia↗
PubMed1980

The lipopigments in human brain tissue necroses. I. Ceroid.

The ceroid pigment of macrophages were subdivided into four different types according to their own color and their ability to stain with luxol fast blue. With reference to this mode a series of more than 200 brain infarcts which had happened 1 day to 56 years before death, was examined systematically. According to the results the ceroid variants do not only succeed one another chronologically but they also represent histochemically successive phases of development which correspond to the progressive auto-oxidation of unsaturated lipids. The occurrence of the different stages is chronologically defined. During this development cortical and subcortical macrophages show different speeds in the ageing process of their pigments. There is no evidence for an essential participation of proteins in the maturation of the ceroid. Not during any phase of development is the reaction pattern identical with that of neuronal and glial lipofuscin.

Cerebral Infarction↗
PubMed1985

Arachidonic acid and other long-chain fatty acids in canine ceroid lipofuscinosis. Distribution in glycerolipids, metabolism, and pathophysiological correlations.

Dogs with canine ceroid lipofuscinosis (CCL)+ show an abnormal EEG as early as 5 mo of age and exhibited either severe disorganization or very low amplitudes by 24 mo. Ceroid particles accumulate with age and, within neurons, have a unique characteristic appearance consisting of lamellar patterns enclosed by a single unit membrane. Although the etiology of their formation has not been fully elucidated, isolated particles are enriched in phospholipids. Our present studies have examined microsomal enzymes involved in phospholipid synthesis and turnover and demonstrate that the acyl group composition of cerebral lipids from animals with CCL is similar to that from controls. However, the activation of palmitic, linoleic, arachidonic, and docosahexaenoic acids into their Coenzyme A thiol ester forms was significantly lower in cerebral and cerebellar microsomes of the diseased dogs than in those of the controls. In addition, the incorporation of arachidonic acid into phospholipids was significantly decreased in affected animals. These results suggest that the metabolism of arachidonic acid plays an important role in the pathogenesis of ceroid lipofuscinosis.

Animals↗