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At least 253 records · Page 14Linked to original sources
PubMed1992

[Adult-onset neuronal ceroid lipofuscinosis--a case report with biological study].

A 32-year-old male was admitted to our hospital complaining of dementia, gait disturbance and blindness. These symptoms developed at the early two decade and were progressive. On admission, his clinical features included dementia (IQ = 69), spasticity, accentuated deep tendon reflexes, ataxia and hypesthesias in his distal limbs. Brain CT scans showed diffuse cerebral atrophy. On light microscopy, many abnormal lipopigments resembling ceroid and lipofuscin were found in Schwann cells of sural nerve and histiocytes of colon. Ultrastructurally, these materials showed lamellar structure like Zebra bodies. Nine lysosomal enzymes, serum very long-chain fatty acids, serum amino acids and urinary oligosaccharides were all normal. Neuronal ceroid lipofuscinosis (NCL) of adult type was diagnosed on the basis of clinical features, radiological and pathological findings, and biochemical studies. Many previous studies suggested that NCL was a disorder with lysosomal dysfunction. We examined lysosomal protein degradation, using 125I-low density lipoprotein (LDL) in cultured fibroblasts from this patient. The degradation of LDL was normal, compared to control subjects. The activities of cathepsin and lysosomal glycosidases, were also normal. The amount of urinary dolichol has been reported to be elevated in the patients with infantile and late infantile types of NCL. However, no elevation was found in the urine of our patient.

Adult↗
PubMedDate not supplied

Evaluation of 36 patients from Turkey with neuronal ceroid lipofuscinosis: clinical, neurophysiological, neuroradiological and histopathologic studies.

Neuronal ceroid lipofuscinosis (NCL) is one of the most common progressive neurodegenerative diseases seen in childhood. NCL is inherited as autosomal recessive trait, and is characterized by the accumulation of 'ceroid lipofuscin' in neuronal and extraneuronal cells. Clinical features include seizures, ataxia, myoclonus, loss of vision, and mental and motor deterioration. Although the disease is widely seen across the world, there seems to be an information gap in Asian countries. To date, no comprehensive and detailed studies on NCL have been carried out in Turkey. However, one could predict that the disease is rather frequent in Turkey due to high rates of consanguineous marriages. Thirty-six Turkish patients were evaluated in this study. Sixteen (44.5%) patients were girls, and 20 (55.5%) were boys. Parents were consanguineous in 25 families (80%). In five families (14%), the disease was seen in two sibs. The diagnosis was based on clinical evaluation, and neurophysiological, neuroradiologic, enzymatic, and histopathological studies. Electron microscopic study was the main diagnostic laboratory test. Three patients were classified as infantile NCL, 11 were late infantile NCL, 5 were juvenile type NCL and 17 patients were Turkish variant NCL. In juvenile type, major initial symptom was visual impairment, whereas in all other types seizures were predominantly the first symptom at the onset of the disease. The initial symptoms of Turkish variant NCL were similar to those of late infantile type. Similar age at clinical symptoms and the presence of visual symptoms were common features of Turkish variant and juvenile NCL. Compared to late infantile NCL, Turkish variant, showed a more severe course regarding seizures. Electroencephalogram (EEG) showed abnormal features predominantly in Turkish variant, and were remarkable for occipital spikes. In patients with Turkish variant magnetic resonance imaging of the brain showed brainstem involvement, especially pons, in all patients except one; cerebral and cerebellar atrophy were seen with a slower course compared to late infantile NCL. Clinical picture of NCL in advanced stages of the disease was similar regardless of the subtype.

Child↗
PubMed2006

[Neuronal ceroid lipofuscinoses].

BACKGROUND: Neuronal ceroid lipofuscinoses (NCL) is a group of degenerative neurological diseases. The diseases are autosomally recessively inherited and are characterized by the accumulation of fluorescent ceroid and lipofuscin in neuronal cells in the brain and in extraneuronal cells. The aim of this review was to assess and to summarize research related to diagnostics and treatment of NCL. MATERIAL AND METHODS: The article is built on own experience and systematic searches on PubMed, Medline, PsychInfo and the Internet. RESULTS AND INTERPRETATION: Three main types of NCL with childhood onset are recognised; an infantile, a late infantile, and a juvenile type. One NCL type starts in adulthood. In Norway the juvenile type is diagnosed most frequently. The diseases are rare. The incidence rates in different countries range from 0.5 to 8.0 per 100,000 live births. The main features include impaired vision, failure of psychomotor development, seizures and premature death. Prior to availability of genetic testing, the clinical status, ophthalmologic examination, examination of blood cells for deposited material (vacuolised lymphocytes) and neurophysiological examinations were the most important methods of confirming the diagnosis. Recent genetic findings have established that defects in at least six different genes underlie the various forms of NCL. There is no curative treatment. Scientists are trying to develop treatment using enzyme replacement, gene therapy, stem cell transplantation and pharmacotherapy. Symptomatic and palliative treatment is therefore essential.

Adult↗
PubMed1990

Ceroid accumulation by murine peritoneal macrophages exposed to artificial lipid-containing particles: the role of the hydrophilic component.

Murine resident peritoneal macrophages were maintained in cell culture in a medium containing 10% lipoprotein-deficient foetal calf serum to which various artificial lipid-containing particles were added. These had a core of oxidizable lipid, generally cholesteryl linoleate, and were stabilized in aqueous suspension by one of a variety of poly-L-amino acids, proteins or polysaccharides. Most particles, except those containing poly-L-lysine or poly-L-arginine (both strongly basic), were readily taken up by the macrophages to form typical ceroid inclusions, the morphological form of which was determined by the nature of the core lipid. The hydrophilic stabilizing component seemed largely irrelevant in this respect. The role of the latter appears largely to be to allow the cellular uptake of lipid, although it may also participate in ceroid formation.

Animals↗
PubMed1990

Ovine ceroid-lipofuscinosis is a proteolipid proteinosis.

The pathogenesis of the ceroid-lipofuscinoses, inherited storage diseases of children, was studied in an ovine model. This was shown to have clinical and pathological features most in common with the late infantile and juvenile human forms of the disease. The ability to study sequential changes allowed the retinal lesions to be described as a dystrophy of photoreceptor outer segments which preceded loss of the photoreceptor cells. An early decrease in amplitude of the c-wave electroretinograph was attributed to a decrease in the transpigment epithelial component. The decreased a- and b-wave amplitudes were attributed to the changes in and loss of, photoreceptor cells. The chemical components of isolated storage cytosomes were analyzed and shown to consist mostly of protein. Sequence analysis of the dominantly stored protein showed that it was identical to the DCCD reactive proteolipid or subunit c of mitochondrial adenosine triphosphate synthase and that it comprised approximately 50% of storage material. Based on the adage that the dominantly stored species should reflect the underlying biochemical anomaly, it was concluded that it was of pathogenic significance. This highly hydrophobic protein tends to extract with lipids in chloroform/methanol and is thus known as a proteolipid. Some of the remainder of the stored proteins also had this characteristic. It was concluded that ovine ceroid-lipofuscinosis was a proteinosis, more specifically a proteolipid proteinosis and as such it forms the prototype of a new class of storage diseases. Recognition of the nature of the dominantly stored chemical species has helped understanding of a variety of chemical and physical characteristics attributed to the whole pigment.(ABSTRACT TRUNCATED AT 250 WORDS)

Amino Acid Sequence↗
PubMed1990

Clinical and pathologic features of ceroid lipofuscinosis in two Australian cattle dogs.

A lysosomal storage disease was diagnosed in 2 Australian Cattle Dog siblings, using light and electron microscopic evaluation. Both dogs developed clinical signs of disease at about 1 year of age. Vision and motor function deteriorated over several months; by 2 years of age, the dogs were blind and had progressive ataxia. Cytoplasmic inclusions with ultrastructural patterns characteristic of ceroid lipofuscin were observed in most neurons examined and in the cells of several other parenchymatous tissues. Biochemical studies, including determination of lysosomal enzyme activities, excluded several other lysosomal storage diseases. In these dogs, the clinical and pathologic features of the disease were similar to those of the juvenile subtype of ceroid lipofuscinosis (Batten disease) in human beings.

Adrenal Medulla↗
PubMed1985

Sea-blue histiocytes in canine ceroid-lipofuscinosis (CCL).

Cells corresponding to sea-blue histiocytes are described in bone marrow aspirates from dogs suffering hereditary ceroid-lipofuscinosis. Sea-blue histiocytes also occur in humans with so-called neuronal ceroid-lipofuscinosis and both exhibit strong autofluorescence. By quantitative fluorometric techniques, each species have similar spectral characteristics and, thus, the English setter with CCL can serve as a useful animal model.

Animals↗
PubMedDate not supplied

[Ceroid-lipofuscinosis: ultrastructural study of 8 cases].

The authors studied the clinical and ultrastructural features of 8 cases of Neuronal Ceroid-Lipofuscinosis (NCL). Five cases of the late-infantile type and 3 cases of the juvenile type. The clinical diagnosis of all cases was confirmed by the electron microscopy analysis of the peripheral blood lymphocytes and biopsy material from the skin, palpebral conjunctiva, skeletal muscle and rectal mucosa. Our observations agree with previous reports concerning the predominance of curvilinear bodies in the cells of the late infantile type, and fingerprint-like structures in those of the juvenile type. The finding of parallel tubular arrays and NCL inclusions associated in the same lymphocyte (frequently in the same vacuole) suggests that those structures could be related to the metabolic error of NCL. Ultrastructural examination of microbuffycoats of peripheric blood lymphocytes is a simple, time-saving and reliable method that allows specific confirmation of a clinical diagnosis of Neuronal Ceroid-Lipofuscinosis.

Adolescent↗
PubMedDate not supplied

Ultrastructure of brain and retina in Kufs' disease (adult type-ceroid-lipofuscinosis).

A patient with Kufs' disease (adult type-neuronal ceroid-lipofuscinosis) is reported. He was the brother of the index case reported by Dom et al. [1979]. The diagnosis had been made by skin and skeletal muscle biopsies. The postmortem study of the brain confirmed the diagnosis and revealed a diffuse intraneuronal storage of membrane-bound inclusions with curvilinear, rectilinear and fingerprint profiles. Neurons from the frontal grey matter, the thalamic nuclei, the cerebellar cortex, the dentate nucleus, the substantia nigra and the anterior horns contained such inclusions, as demonstrated by electron microscopy. Because some light microscopic changes had been described in the retina of the brother, a complete ultrastructural examination of the eye was carried out in our patient. Except for signs of storage in the oculomotor muscles and in the smooth muscle cells of the ciliary body, the only ocular signs of storage were found in the retinal ganglion cells. Some of the latter contained inclusions which were quite analogous to the ones found in the neurons of the central nervous system. The pigmented epithelium, the photoreceptors and all the other retinal layers were normal. It is necessary to perform neurophysiological and electron microscopic studies at the retinal level to help clarify the confusion between the protracted and adult types of ceroid-lipofuscinosis since they may chronologically overlap.

Adult↗
PubMed1987

What is the significance of ceroid in human atherosclerosis?

This review of the significance of ceroid within the atherosclerotic intima proposes that the macrophages have a central role to play in its production. Ceroid is more than merely an "age pigment." It marks the site of previous oxidative events, possibly including the release of biologically active or toxic, soluble oxidized molecules. This being so, this activity of macrophages may have a significant role in the progression of the lesions. The interactions of macrophages and oxidizable unsaturated lipids therefore merit further investigation.

Animals↗
PubMed1984

The production of ceroid by mouse peritoneal macrophages in vitro.

Murine resident peritoneal macrophages accumulated lipid droplets and subsequently insoluble, ceroid-like material when cultured in vitro in a medium containing 33% fetal calf serum. At least some of this insoluble lipid was membrane-bound and by light microscopy it often appeared as 'rings' with a hollow centre. It is suggested that the production of ceroid may be the consequence of the uptake of lipids from the extracellular medium and the activity of the macrophage's membrane-bound oxidative microbicidal mechanisms. The results indicate that macrophages are capable of rendering lipids insoluble, supporting the suggestion that this might occur in the atherosclerotic plaque.

Animals↗
PubMed1983

[Anomalies in fatty acids distribution and superoxide dismutase activity in lymphocytes of an adult with atypical ceroid lipofuscinosis].

A 27-year-old Algerian patient presented a slowly progressive disease clinically characterized by a cerebellar syndrome, absence of deep reflexes, bilateral sign of Babinski, deep sensory disturbances, ophthalmologic disorders and pes cavus. The diagnosis of ceroid lipofuscinosis resulted from the presence of lipofuscin deposits evidenced as autofluorescent bodies, and a particular type of curvilinear, crystalloid ultrastructural inclusion bodies in muscle, lymphocytes and liver. Biochemical tests showed reduction in levels of linoleic and arachidonic acids, and of superoxide dismutase activity in lymphocytes. These findings suggest that the biochemical anomalies result from disturbances in polyunsaturated fatty acids metabolism. These results can be related to pathogenetic hypotheses for ceroid lipofuscinosis suggesting a predominant role for peroxidation of fatty acids.

Adult↗
PubMed1980

Electroretinograms in English setters with neuronal ceroid lipofuscinosis.

Full-field electroretinograms (ERGs) were recorded from three adult English setters with advanced neuronal ceroid lipofuscinosis and three normal controls. Affected setters showed 30% to 40% reductions in a-wave and b-wave amplitudes, normal cone and rod b-wave implicit times, and slightly elevated a-wave and b-wave thresholds. The ERGs of these affected setters differed from those that have been recorded from humans with neuromal ceroid lipofuscinosis (Batten's disease), humans with hereditary retinitis pigmentosa, Irish setters with rod-cone dysplasia, and miniature French poodles with progressive rod-cone degeneration.

Animals↗
PubMedDate not supplied

Histochemistry of B663 pigmentation: ceroid-like pigmentation in macrophages.

Histochemical studies were made of pigmented cutaneous lesions from three cases of lepromatous leprosy treated with B663 to determine the nature and histogenesis of the brown pigmentation which develops as a side effect of the drug. One case of DDS-treated leprosy and four cases of untreated leprosy were also investigated histochemically as controls. The brown pigmentation of the skin is due to deposition of a ceroid-like substance in the macrophages, which is a yellowish-brown, acid-fast lipid pigment. It is insoluble in fat solvents and accepts lipid dyes even after lipid extraction by fat solvents. The macrophages in the B663-treated leprosy contain more neutral fat and less phospholipid than the untreated lepromatous leprosy tissues. Ceroid in the macrophages probably originated from unsaturated fatty acids of the leprosy bacilli through oxidation or their binding with the drug. Crystals of the drug were not found in the macrophages in this series, even on the tissues embedded in carbowax or frozen sections.

Ceroid↗
PubMed1994

[Adult neuronal ceroid lipofuscinosis (Kufs disease)--a rare cause of dementia].

Kufs' disease is a very rare type of neuronal ceroid lipofuscinosis. A case of a 52 year old man with dementia is described. The cause for patient's dementia was the adult type (Kufs' disease) of neuronal ceroid lipofuscinosis. The diagnosis based on the histopathological post mortem-examination of the brain-tissue. A brother of our patient became ill with the same symptoms and at the same age of onset. So we conclude that there is a accumulation in the family.

Brain↗
PubMed1994

Retinal degeneration in motor neuron degeneration: a mouse model of ceroid lipofuscinosis.

PURPOSE: To evaluate the retinal degeneration of the motor neuron degeneration (mnd) mouse, and to confirm its inheritance pattern and gene location. METHODS: In screening the mnd/mnd mouse for ocular disease, a retinal degeneration was found that was evaluated by serial electroretinography, histology, electron microscopy, indirect ophthalmoscopy, and genetic and linkage analysis. RESULTS: In homozygous mnd mice, photoreceptor and outer nuclear layers show cell loss by 5 weeks after birth. By 2 months, the peripheral retina is preferentially thinner than central retina, and by 6 months the entire retina is reduced in thickness. The electroretinogram was extinguished by 6 months. Transmission electron microscopy at 3 and 6 months showed distinct cytoplasmic inclusions characteristic of the curvilinear profiles seen in human ceroid lipofuscinosis. Genetic analyses show that the retinal degeneration in mnd mice is inherited as a single autosomal gene with recessive expression, and a three-point cross placed the retinal degeneration at the mnd locus on the proximal end of mouse chromosome 8. Crosses with other known strains with retinal degeneration were normal. CONCLUSIONS. The mnd mouse model is similar to the juvenile onset Spielmeyer-Vogt form of ceroid lipofuscinosis (Batten disease), and provides a good model for the retinal degeneration found in these patients.

Alleles↗
PubMedDate not supplied

In vitro glycosylation in the retina in canine ceroid-lipofuscinosis.

Dolichol-dependent glycoprotein synthesis in the sensory retina of adult dogs with canine ceroid-lipofuscinosis (CCL) has been investigated by studying 3H-mannose uptake in organ culture. Sensory retinal organ cultures were prepared from unaffected littermates and mongrel dogs were used as controls. Morphometric analysis of autoradiographs from dogs without disease showed maximal uptake predominantly into photoreceptors and inner segments, and no abnormalities of incorporation were observed in two affected animals. Tunicamycin blocked the reaction in both samples. Incorporation of 3H-leucine was also normal in CCL retinal tissues. These studies demonstrate that the pathways for addition of mannose residues into dolichol pyrophosphate prior to transfer onto acceptor proteins is similar in normal dogs and those with CCL and does not appear to be the primary lesion in ceroid formation. Its role as a model for lipopigment storage is discussed.

Animals↗