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At least 235 records · Page 13Linked to original sources
PubMed1997

Somatosensory evoked magnetic fields from primary sensorimotor cortex in juvenile neuronal ceroid lipofuscinosis.

The present study evaluated neurophysiologic function of the primary sensorimotor cortex in juvenile neuronal ceroid lipofuscinosis. A 122-channel magnetometer, which allowed studies of the somatosensory system in millimeter and millisecond precision, was used to record somatosensory evoked magnetic fields to median nerve stimulation from 10 patients and their matched control subjects. In both patients and controls, the somatosensory evoked magnetic fields from primary sensorimotor area typically consisted of N20m, P35m, and P60m deflections. In the patients, N20m was significantly delayed, whereas P35m peaked earlier than in the control subjects. The source strengths for N20m and P35m were greater in the patients than in the controls. Both deflections showed a significant positive correlation with the disease duration: the sources were stronger in the older patients than in the younger ones. P60m deflections were normal or reduced in the patients. The results indicated increased thalamocortical excitability in the sensorimotor cortex in juvenile neuronal ceroid lipofuscinosis.

Adolescent↗
PubMed2005

A CLN5 mutation causing an atypical neuronal ceroid lipofuscinosis of juvenile onset.

Three related patients from Colombia presented with a juvenile-onset neuronal ceroid lipofuscinosis. Electron microscopy of one case showed condensed fingerprint profiles, and genetic analyses identified a novel missense mutation in CLN5. The authors demonstrate the existence of pathogenic CLN5 mutations outside northern Europe and that mutations in this gene can lead to an atypical late-onset neuronal ceroid lipofuscinosis disease, in addition to the late infantile form first described in Finland.

Amino Acid Sequence↗
PubMed1983

Dolichols in brain and urinary sediment in neuronal ceroid lipofuscinosis.

Long-chain polyisoprenoid alcohols (dolichols) increase more than tenfold from age 5 to 80 years in human cerebral cortex. The dolichol content of brain from infantile, late infantile, and juvenile forms of neuronal ceroid lipofuscinosis (NCL) was significantly higher than in age-matched patients with other neurologic diseases. Significant increase of dolichols was also found in the urinary sediment in all three types of NCL patients, and this test is useful in making the diagnosis. Dolichol accumulation is the first biochemical marker of NCL and seems to parallel storage of ceroid lipofuscin.

Adolescent↗
PubMed1987

CT in ceroid lipofuscinosis.

The diagnosis of the childhood forms of neuronal ceroid lipofuscinosis is considered when a child presents with seizures, dementia, and pigmentary change in the retina. A diagnosis is based on the result of skin or conjunctival biopsy. We report two children who had CTs obtained at the onset of seizures and prior to the occurrence of intellectual deterioration or retinal pigmentary changes. In both cases, the CT showed marked enlargement of the fourth ventricle and cerebellar atrophy without concomitant cerebral atrophy. We suggest that this cerebellar atrophy may be an early sign of ceroid lipofuscinosis and may be of particular note when seen on the CT scan of a child with a recent onset of seizures.

Atrophy↗
PubMed1993

Systemic ceroid-lipofuscinosis in a Japanese domestic cat.

An 11-month-old castrated male Japanese domestic cat was euthanized because of neurological symptoms such as shivering and difficulty of walking. Histopathological examination showed glial proliferation and marked deposition of ceroid-lipofuscin in the neuronal and glial cells of the brain. Ceroid-lipofuscin was deposited also in reticuloendothelial cells of the liver, spleen and some lymph nodes.

Animals↗
PubMed2000

Ceroid-lipofuscinosis in a Cocker Spaniel dog.

A neurodegenerative storage disease identified as ceroid-lipofuscinosis by light, fluorescence, and electron microscopic examinations was diagnosed in a 4-year-old female Cocker Spaniel dog with progressive ataxia and proprioceptive deficits. Stored pigment was found within neurons of the brain and spinal cord and in smooth muscle cells of the urinary bladder and small muscular arteries. The microscopic findings resembled those found in six other cases of generalized ceroid-lipofuscinosis in this breed. However, the brown discoloration of the intestines, which was the major gross lesion observed in those cases, was not found. This is the first report of the disease in Argentina.

Animals↗
PubMed2000

Neuronal ceroid lipofuscinoses: a clinical and morphological study of 17 patients from southern Brazil.

The neuronal ceroid lipofuscinoses (NCL) are a group of inherited progressive neurodegenerative disorders with presentation from infancy to adulthood. Three main childhood forms can be established on the basis of age of onset, clinical course, and ultrastructural morphology: infantile (INCL), late infantile (LINCL), and juvenile (JNCL). Several variant subtypes have been described. Genetic and biochemical analysis are helping to better understand, diagnose and classify these disorders. We report on clinical, neurophysiological, neuroradiological, and morphological data from 17 patients with different forms (infantile, late infantile, and juvenile ) of neuronal ceroid lipofuscinoses (NCL) evaluated at Hospital de Clínicas de Porto Alegre, Southern Brazil, during 6 years (1992-1997). Seven cases were infantile; 5 were late infantile; and 5 were juvenile NCL. Gender ratio was male:female, 11:6. Age at presentation varied from 2-24 months for INCL; 2,5 to 5 years for LINCL; and 4-10 years for the JNCL cases. Seizures (6 patients) and psychomotor retardation (1 patient) were the initial symptoms in the INCL group. All the patients in the group of LINCL had the usual findings. JNCL patients manifested different initial symptoms, although tending to follow a similar clinical picture within familial cases. Epidemiological data on the prevalence of NCLs in Brazil are not available, we expect this series of cases to contribute to further research in our population.

Adolescent↗
PubMed1994

Differing effects of probucol and vitamin E on the oxidation of lipoproteins, ceroid accumulation and protein uptake by macrophages.

Studies using 125I-low density lipoprotein (125I-LDL) show that probucol (10 microM) and alpha-tocopherol (100 microM) inhibit protein degradation in LDL exposed to Cu (II) in vitro. The inhibitory effect of alpha-tocopherol on protein fragmentation exceeded that of probucol. On the other hand, probucol was more able to inhibit lipid peroxidation. The subsequent uptake of Cu (II)-oxidised 125I-LDL by murine peritoneal macrophages (MPM) was virtually unaffected by the presence of probucol during LDL oxidation. The same was not true for alpha-tocopherol which led to lower levels of 125I-LDL uptake by MPM. Thus, it appears that although the antioxidant activity of probucol exceeds that of alpha-tocopherol for lipid oxidation, the reverse is true for protein degradation and, perhaps more significantly, for subsequent macrophage uptake. Further studies used artificial lipoproteins composed of cholesteryl linoleate or cholesteryl arachidonate complexed with bovine serum albumin. Culture of these artificial lipoproteins with MPM resulted in protein uptake, protein degradation, cholesterol oxidation to cholest-5-en-3 beta,7 beta-diol and the intracellular accumulation of ceroid in MPM. The presence of alpha-tocopherol (0-100 microM) inhibited all of these processes. Probucol (0-10 microM) inhibited ceroid accumulation and cholesterol oxidation to the same degree as alpha-tocopherol (0-100 microM) but had no effect upon protein degradation and protein uptake. Control studies of lipoproteins incubated without cells showed that protein degradation by cell-independent processes was also inhibited by alpha-tocopherol, but not by probucol. These observations are discussed in the context of the role of lipoprotein oxidation in atherogenesis.

Animals↗
PubMed1990

An ultrastructural study on retinal neural and pigment epithelial cells in ovine neuronal ceroid-lipofuscinosis.

Ovine neuronal ceroid-lipofuscinosis represents another well studied model for human neuronal ceroid-lipofuscinosis (NCL). Accumulation of abnormal lipopigments in various retinal neurons, and loss of photoreceptors are similar to the lesions in human juvenile NCL and indicate that the sheep is a suitable model in which to study the pathogenesis of both NCL lipopigment formation and retinopathia pigmentosa. However, this latter process is not as advanced in NCL-diseased sheep as in human patients but far more obvious than in canine NCL in which retinopathy cannot be unequivocally documented. Ovine NCL shares with canine NCL peculiar lamellar inclusions in retinal pigment epithelial cells which may indicate an impaired catabolism of phagocytosed photoreceptor outer segments. As the peculiar lamellar inclusions seen in RPE cells of both NCL-diseased sheep and dogs do not very much resemble the phagocytosed photoreceptor outer segments, it may be assumed that in NCL the final steps in complete removal of these phagocytosed photoreceptor outer segments are also defective.

Animals↗
PubMed1994

The electrooculogram in heterozygote carriers of Usher syndrome, retinitis pigmentosa, neuronal ceroid lipofuscinosis, senior syndrome and choroideremia.

Electrooculographic studies were performed in 77 carriers of tapetoretinal dystrophies: Usher syndrome (20), retinitis pigmentosa (32), neuronal ceroid lipofuscinosis (6), Senior syndrome (2), and choroideremia (17). The carriers were matched for sex and age with normal controls. In carriers of Usher syndrome the EOG Lp/Dt ratio was significantly lowered with 30% of the recordings having a subnormal value. There was a trend in carriers of retinitis pigmentosa to a subnormal EOG. In contrast to previous studies there was no decrease in the EOG Lp/Dt ratio in carriers of neuronal ceroid lipofuscinosis. Two carriers of Senior's syndrome had a normal EOG. Carriers of choroideremia did not differ significantly from normal controls; however, the Lp/Dt ratio decreased with increasing age. An abnormal EOG may be indicative of the carrier state in relatives of patients with tapetoretinal dystrophies.

Adult↗
PubMed1998

Adult neuronal ceroid lipofuscinosis with clinical findings consistent with a butterfly glioma. Case report.

The authors report a case of neuronal ceroid lipofuscinosis (Kufs' disease) confirmed by stereotactically obtained brain biopsy findings and initially diagnosed as a butterfly glioma. The presenting symptoms in the 64-year-old patient were mental alterations with progressive dementia, followed by muscular atrophy and myoclonia with distal preponderance. The mild initial disturbances of coordination increased, and the patient developed a markedly ataxic gait. Computerized tomography (CT) scanning and magnetic resonance imaging revealed generalized cerebral atrophy and a bifrontal space-occupying lesion involving the callosum. The original "clearcut" diagnosis of glioblastoma multiforme, based on CT scans, was unexpectedly disproved by examination of stereotactically obtained brain biopsy specimens, which revealed a neuronal ceroid lipofuscinosis (Kufs' disease). To the authors' knowledge, this is the first report of a case presenting with both diffuse brain atrophy and localized accumulation of neuronal lipofuscin, mimicking a mass lesion on radiological studies.

Atrophy↗
PubMed2003

A case of late infantile neuronal ceroid lipofuscinosis.

Neuronal ceroid lipofuscinosis, which is also known as Batten-Bielschowsky disease, is a group of neuro degenerative disorders, associated with various progressive symptoms including seizures, dementia, visual loss and cerebral atrophy. We experienced a case of late infantile neuronal ceroid lipofuscinosis in a 6-year-old boy who had progressive myoclonic seizures, ataxia, rapid psychomotor deterioration and visual loss. Photic stimulation at 2 to 5 Hz elicited a discrete spike and wave discharges in the occipital region on an electroencephalogram. Magnetic resonance imaging of the brain showed generalized cerebral and cerebellar atrophy. An electron microscopic examination of the skin revealed characteristic curvilinear inclusion bodies. An optic fundoscopy revealed a devastated retina and severe optic atrophy. We report this case with the brief review of related literature.

Child↗
PubMedDate not supplied

Computed tomographic findings of ceroid lipofuscinosis in a dog.

A two-year and seven-month-old, castrated male border collie was presented for a two-month history of progressive neurological signs including blindness, ataxia, dementia, and partial seizures. A complete blood count, serum biochemical profile, urinalysis, thoracic radiographs, and cerebrospinal fluid analysis were within reference ranges. Computed tomography (CT) of the brain showed dilatation of the ventricles and atrophy of the cerebral cortex. A central nervous system (CNS) storage disease was suspected, and the dog was euthanized due to a poor prognosis. Light and electron microscopic examination revealed neuronal degeneration with pigment accumulation in neurons of the CNS, in ganglia of the peripheral nervous system, and in several non-nervous tissues. Ceroid lipofuscinosis was diagnosed based on the microscopic and ultrastructural lesions detected. This is the second report of CT findings in a canine clinical patient with ceroid lipofuscinosis.

Animals↗
PubMed2000

Cathepsin D deficiency induces lysosomal storage with ceroid lipofuscin in mouse CNS neurons.

Cathepsin D-deficient (CD-/-) mice have been shown to manifest seizures and become blind near the terminal stage [approximately postnatal day (P) 26]. We therefore examined the morphological, immunocytochemical, and biochemical features of CNS tissues of these mice. By electron microscopy, autophagosome/autolysosome-like bodies containing part of the cytoplasm, granular osmiophilic deposits, and fingerprint profiles were demonstrated in the neuronal perikarya of CD-/- mouse brains after P20. Autophagosomes and granular osmiophilic deposits were detected in neurons at P0 but were few in number, whereas they increased in the neuronal perikarya within days after birth. Some large-sized neurons having autophagosome/autolysosome-like bodies in the perikarya appeared in the CNS tissues, especially in the thalamic region and the cerebral cortex, at P17. These lysosomal bodies occupied the perikarya of almost all neurons in CD-/- mouse brains obtained from P23 until the terminal stage. Because these neurons exhibited autofluorescence, it was considered that ceroid lipofuscin may accumulate in lysosomal structures of CD-/- neurons. Subunit c of mitochondrial ATP synthase was found to accumulate in the lysosomes of neurons, although the activity of tripeptidyl peptidase-I significantly increased in the brain. Moreover, neurons near the terminal stage were often shrunken and possessed irregular nuclei through which small dense chromatin masses were scattered. These results suggest that the CNS neurons in CD-/- mice show a new form of lysosomal accumulation disease with a phenotype resembling neuronal ceroid lipofuscinosis.

Action Potentials↗
PubMedDate not supplied

[Neurological aspects of ceroid-lipofuscinoses].

OBJECTIVE: We discuss the historical, epidemiological, clinical, complementary tests and neuropathological details of ceroid-lipofuscinoses in children. DEVELOPMENT: Initially, we review the basic concepts and historical details of the disorders, and the frequency and distribution of the different clinical forms. Subsequently, we review the subtypes and variants most commonly found in children, together with the elements necessary for diagnosis. Finally we analyze the neuropathological studies and their clinical correlation. CONCLUSIONS: The clinical diagnosis of ceroid-lipofuscinoses should be based on a clinical history showing disorders of vision, convulsions and regression of psychomotor functions. Neuroimaging findings, neurophysiological changes and ultrastructural studies confirm the diagnosis.

Brain↗
PubMed2001

Classic late infantile neuronal ceroid lipofuscinosis in a Chinese patient.

Neuronal ceroid lipofuscinoses are a group of rare neurodegenerative disorders that are characterised by an accumulation of autofluorescent lipopigments in neurons and extraneuronal tissues. We report on a 4-year-old boy who presented with an acute onset of seizures followed by rapid psychomotor deterioration, ataxia, and visual failure. Photic stimulation at 1 to 3 Hz elicited discrete spike and wave discharges in the electroencephalogram, which were diminished at a higher frequency of stimulation. The electroretinogram was extinct. Magnetic resonance imaging of the brain showed generalised cerebral and cerebellar atrophy. Electron microscopic examination of lymphocytes and samples of muscle and skin revealed characteristic curvilinear inclusion bodies. To our knowledge, this is the first case of late infantile neuronal ceroid lipofuscinosis to be reported in a Hong Kong Chinese patient.

Aminopeptidases↗
PubMedDate not supplied

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.

Animals↗
PubMed2001

Ceroid lipofuscinosis, neuronal 3, Juvenile-Batten disease: case report and literature review.

BACKGROUND: Ocularly, Batten disease is characterized by a rapid deterioration of vision, progressing to blindness within a few years. Onset typically occurs at between 5 and 10 years of age. The fundus shows a bull's eye maculopathy, diffuse pigmentary degeneration, arteriolar attenuation and optic atrophy, and an extinguished ERG. CASE REPORT AND LITERATURE REVIEW: The visual acuity and ocular health findings of a 7-year-old child, eventually diagnosed with Batten disease, are reviewed. Additionally, a review of the literature concerning the ocular and systemic manifestations of the various ceroid lipofuscinoses is presented. CONCLUSION: Batten disease is the most likely of the ceroid lipofuscinoses to be manifested in an ophthalmic practitioner's office before the diagnosis of the underlying condition. Although there currently is no treatment for this condition, making the correct diagnosis is important for appropriate low-vision management, educational planning, and genetic counseling.

Age of Onset↗