Search PubMed⌕ Search

SEARCH · Search PubMed

Results for “NCL”

Search indexed PubMed citations on genomics, clinical trials, systematic reviews and public health. Explore titles, authors and supplied subject terms, then open the PubMed record.

Quote a phrase for an exact phrase match. Source license links do not imply unrestricted reuse.

At least 181 records · Page 10Linked to original sources
PubMed2004

Changes in ovarian, follicular, and oocyte morphology immediately after the onset of puberty are not accompanied by an increase in oocyte developmental competence in the pig.

This study was conducted to determine whether ovarian morphology and developmental competence of in vitro-matured (IVM) oocytes is immediately affected by the onset of puberty in the pig. Ovaries of peri-pubertal pigs were sorted into two groups according to the presence or absence of corpora lutea presence (CL and NCL, respectively. Ovary dimensions, follicle diameter and number, and oocyte diameter (with and without zona pellucidae) were determined. The developmental competence of in vitro-matured oocytes from these two groups was evaluated following parthenogenetic activation and culture in vitro. CL ovaries were significantly (P<0.01) larger than NCL ovaries (width: 22.3+/-0.9 mm versus 15.9+/-0.4 mm, length: 33.2+/-1 mm versus 24.1+/-0.4 mm). Although CL ovaries had fewer antral follicles in total compared with NCL ovaries (21.1+/-1.8 mm versus 46.8+/-2.2 mm), they had a similar number of follicles 3-8mm in diameter. The mean diameter of follicles that were aspirated was greater for CL ovaries than for NCL ovaries (4.5+/-0.1 mm versus 3.3+/-0.02 mm). Oocytes from CL ovaries were greater in diameter compared with those from NCL ovaries (zona retained: 159+/-1.3 microm versus 146.1+/-1.5 microm, zona free: 124.7+/-1.8 microm versus 113.1+/-1.6 microm). No differences were found between oocytes from CL and NCL ovaries for rates of meiotic maturation (91.6+/-3.2% versus 92.4+/-3.2%), cleavage (88.4+/-11% versus 90.7+/-2.6%) and blastocyst formation (21.0+/-3.7% versus 23.7+/-5.7%). Therefore, the onset of puberty coincides with immediate changes in ovarian morphology, increased ovary size, follicle and oocyte diameter, but not with improved oocyte developmental competence. This suggests that the higher developmental competence usually observed in adult oocytes is acquired gradually and requires exposure to multiple estrus cycles.

Animals↗
PubMed2002

Estrogen regulates a tissue-specific calpain in the anterior pituitary.

A PCR-based cDNA subtraction hybridization was performed to identify the genes stimulated by estrogen in the pituitary. A novel tissue-specific calpain (nCL-2'), previously shown to be expressed mainly in the stomach, was markedly induced in the pituitary after estrogen treatment. The 5'-flanking region of the calpain nCL-2' gene was analyzed to assess the molecular mechanism of estrogen regulation. Sequence analysis of the nCL-2' promoter (1.9 kb) revealed a perfectly palindromic putative estrogen-response element (ERE), GGTCATGCTGACC. In transient transfection studies, the nCL-2' promoter was highly responsive to estrogen in the presence of estrogen receptor (ER). Transcriptional activation by estrogen was prevented by an ERE mutation as well as by mutations in the ER DNA-binding domain. An ER antagonist, ICI 182780, blocked estrogen inducibility of the nCL-2' promoter. We conclude that the nCL-2' form of calpain is expressed in the pituitary and upregulated by estrogen at the transcription level.

Animals↗
PubMed2001

Biochemistry of neuronal ceroid lipofuscinoses.

This chapter summarizes the recent advances that have been made with respect to biochemical characterization of the neurodegenerative diseases collectively known as neuronal ceroid lipofuscinoses (NCL) or Batten disease. Genomic and proteomic approaches have presently identified eight different forms of NCL (namely, CLN1 through CLN8) based on mutations in specific genes. CLN1 and CLN2 are caused by mutations in genes that encodes lysosomal enzymes,palmitoyl protein thioesterase and pepstatin-insensitive proteinase, respectively. The protein involved in the etiology of CLN3 is a highly hydrophobic, presumably transmembrane protein. NCL are considered as lysosomal storage diseases because of the accumulation of autofluorescent inclusion bodies. The composition of inclusion bodies varies in different forms of the NCL. The major storage component in CLN2 is the subunit c of mitochondrial ATP synthase complex and its accumulation is the direct result of lack of CLN2p in this disease. Mannose-6-phosphorylated glycoproteins accumulate in CLN3 and most likely their accumulation is the result of an intrinsic activity of the CLN3 protein. Significant levels of oligosaccharyl diphosphodolichol also accumulate in CLN3 and CLN2, whereas lysosomal sphingolipid activator proteins (saposins A and D) constitute major component of the storage material in CLN 1. The issue of selective loss of neuronal and retinal cells in NCL still remains to be addressed. Identification of natural substrates for the various enzymes involved in NCL may help in the characterization of the cytotoxic factor(s) and also in designing rationale therapeutic interventions for these group of devastating diseases.

ATP Synthetase Complexes↗
PubMed1997

Turnover of F1F0-ATP synthase subunit 9 and other proteolipids in normal and Batten disease fibroblasts.

Fibroblasts derived from patients with late infantile neuronal ceroid lipofucsinosis (NCL) and from a mouse model of NCL are similar to cells in intact animals in that they accumulate subunit 9 of mitochondrial F1F0-ATP synthase (F-ATPase) (Tanner, A., Dice, J.F., Cell Biol. Int. 19 (1995) 71-75). We now report no differences in the synthetic rates of F-ATPase subunit 9 in such affected cells when compared to control cells. However, the degradation rates of F-ATPase subunit 9 are reduced in both the affected human and mouse cells. This reduced degradation applies only to subunit 9 and the homologous vacuolar ATPase subunit among five distinct, reproducible proteolipid bands analyzed. Approximately 15% of newly synthesized F-ATPase subunit 9 is rapidly degraded in control cells, but this rapidly degraded component is absent in both the human and mouse NCL fibroblasts. At confluence, when the accumulated F-ATPase subunit 9 transiently disappears from human NCL fibroblasts, there is an increased degradation of all proteolipids. The pathway of degradation that is enhanced at confluence is likely to correspond to lysosomal macroautophagy. We confirmed that lysosomes were able to degrade F-ATPase subunit 9 after endocytosis of radiolabeled mitochondria. Human NCL fibroblasts were less active than control cells in this lysosomal degradation of endocytosed F-ATPase subunit 9. However, this difference was not specific for F-ATPase subunit 9 since it also applied to total endocytosed mitochondrial protein. We conclude that degradation of F-ATPase subunit 9 can occur by multiple pathways and that a mitochondrial pathway of proteolysis is defective in the late infantile human and mouse forms of NCL.

Animals↗
PubMed2001

Assessment of dietary therapies in a canine model of Batten disease.

The neuronal ceroid lipofuscinoses (NCLs) are inherited neurodegenerative diseases that occur in a number of animal species, including dogs. A study was conducted to determine whether the resupply of nutrients lost in NCL English Setter dogs would modify the course of the disease. Carnitine and polyunsaturated fatty acids have been reported to be reduced in NCL English Setters. Therefore, the normal laboratory diets of NCL dogs were supplemented with carnitine, fish oil and corn oil and the disease progression was compared with that of an untreated litter mate. The following specific prognostic indicators of NCL were monitored: cognitive function, brain atrophy, brain glucose metabolism and lifespan. Carnitine, with or without lipid supplements, dramatically delayed the progression of cognitive decline in NCL dogs. When fish oil and corn oil only were supplied, brain atrophy was reduced. A combination of all three supplements preserved cognitive function and increased lifespan by 10%. However, brain glucose hypometabolism and cerebral atrophy were not reduced. The results in this study indicated that the effectiveness of therapeutic interventions can be assessed by non-invasive methods at a relatively early stage of the disease process. Our study suggests that dietary supplementation with carnitine is a promising new approach for delaying or preventing the cognitive decline in dogs, and perhaps, with human NCL patients.

Animals↗
PubMedDate not supplied

Diagnosis of neuronal ceroid lipofuscinosis (Batten disease) by electron microscopy in peripheral blood specimens.

Neuronal ceroid lipopofuscinosis (Batten disease, NCL) represents a group of common childhood neurodegenerative diseases with a shared feature of deposition of abnormal metabolic products in neurons and other tissues, including peripheral blood lymphocytes. In most forms of NCL no specific enzyme defect is known and the diagnosis relies primarily on ultrastructural identification of characteristic membrane-bound inclusions containing the abnormal metabolic product. All buffy-coat specimens examined during a 7-year period (1997-2004) for the exclusion or confirmation of the diagnosis NCL were reviewed. From a total of 265 samples, 9 were inadequate and NCL was diagnosed in 56. Five showed granular osmophilic deposits of infantile Batten disease (NCL1), 10 showed curvilinear profiles of classical late infantile Batten disease (NCL2), and 17 showed vacuolated lymphocytes with fingerprint profiles, indicating classical juvenile Batten disease (NCL3). 24 samples (43%) demonstrated compact electron-dense deposits with fingerprint profiles in the absence of vacuolated lymphocytes, indicative of variant forms NCL. Ultrastructual examination of peripheral blood allows reliable and specific diagnosis of subtypes of Batten disease, including variants, and is a useful, minimally invasive test for the diagnosis of NCL in childhood.

Ceroid↗
PubMedDate not supplied

Changes in serum pneumoproteins caused by short-term exposures to nitrogen trichloride in indoor chlorinated swimming pools.

Nitrogen trichloride (NCl(3)) is an irritant gas released in the air of indoor pools sanitized with chlorine-based disinfectants. In the present study we investigated the effects of NCl(3) on the pulmonary epithelium of pool attendees by measuring the leakage into serum of three lung-specific proteins (pneumoproteins): the alveolar surfactant-associated proteins A and B (SP-A and SP-B) and the bronchiolar 16 kDa Clara cell protein (CC16). These pneumoproteins were measured in the serum of 29 recreational swimmers (16 children and 13 adults) before and after attending a chlorinated pool with a mean NCl(3) concentration of 490 microg m(-3). Pneumoprotein changes in serum were also studied in 14 trained swimmers performing an intensive 45 min standardized swimming session in a chlorinated pool (mean NCl(3) concentration of 355 microg m(-3)) and for the purposes of comparison in a non-chlorinated pool sanitized by the copper/silver method. Serum CC16 was not increased in recreational swimmers, but in trained swimmers serum levels of this protein peaked immediately after strenuous exercise, both in the copper/silver pool and in the chlorinated pool. This acute increase in airway permeability is probably the consequence of the mechanical stress on the epithelial barrier caused by overinflation and/or hyperventilation during intense exercise. Serum levels of SP-A and SP-B were unaffected by strenuous exercise in the copper/silver pool. The two proteins were, however, significantly increased in a time-dependent manner in recreational and trained swimmers attending the chlorinated pool. The intravascular leakage of SP-A and SP-B was already statistically significant after only 1 h of exposure to pool air without exercising and remained elevated for 12 h after. These changes were not associated with decrements in lung function. The ability of NCl(3) to acutely disrupt the lung epithelium barrier was confirmed in mice using serum CC16 and plasma proteins in bronchoalveolar lavage fluid as permeability markers. The significance of these permeability changes induced by NCl(3) in the deep lung is presently unknown. In view of the increasing and widespread human exposure to this gas not only in indoor pools but also in a variety of other situations, these findings warrant further study.

Adolescent↗
PubMed2006

Cathepsin D deficiency underlies congenital human neuronal ceroid-lipofuscinosis.

Congenital neuronal ceroid-lipofuscinosis (NCL) is a devastating inherited neurodegenerative disorder of unknown metabolic basis. Eight patients with this rare disorder, all with similar clinical and neuropathological findings, have been reported, and here we describe two further patients. Previously, we showed that a mutation in the cathepsin D gene causes congenital NCL in sheep. On the basis of the neuropathological and ultrastructural similarities between the sheep and patients affected with congenital NCL, we screened the cathepsin D gene for mutations in a patient of Pakistani origin. We identified a nucleotide duplication, c.764dupA, in the cathepsin D gene in homozygous form in the patient, and in heterozygous form in his father. This duplication is likely to be disease-causing, as it creates a premature stop codon, predicting a truncation of the protein. When transiently expressed in cell cultures, the mutant protein was enzymatically inactive, but stable. In paraffin-embedded brain tissue samples of two affected siblings of the Pakistani patient, cathepsin D was absent, suggesting rapid degradation of the c.764dupA mutant cathepsin D at mRNA or protein level in vivo. Further, we were able to confirm lack of cathepsin D in the brain tissue of yet another, unrelated, patient of English origin with congenital NCL. On the basis of the present data, and the nearly identical clinical and/or pathological phenotype of the other reported cases of congenital NCL, it is reasonable to suggest that cathepsin D deficiency caused by mutations in the corresponding gene may underlie all cases of congenital NCL. The present observations also suggest that cathepsin D deficiency should be considered as a possible diagnosis in microcephalic neonates, who present with seizures at or before birth.

Animals↗
PubMed1999

Three-dimensional computed tomographic analysis of the primary nasal deformity in 3-month-old infants with complete unilateral cleft lip and palate.

The purpose of this study was to analyze the geometry of the primary cleft lip nasal deformity using three-dimensional computerized tomography in a group of 3-month-old infants with complete unilateral cleft lip and palate before surgical intervention. Coordinates and axes were reconfigured after the three-dimensional image was oriented into neutral position (Frankfurt horizontal, true anteroposterior, and vertical midline). Display and measurement of skin surface and osseous tissues were achieved by adjusting the computed tomographic thresholds. S-N, N-ANS, S-N-O, and S-N-ANS were measured from true lateral views. Biorbital (LO-LO), interorbital (MO-MO), intercanthal (en-en), and nasal (al-al) widths were measured from the anteroposterior view. The bony alveolar cleft width was measured from the inferior view. The study group was divided into two groups on the basis of skeletal alveolar cleft width: six patients with clefts narrower than 10 mm and six patients with clefts wider than 10 mm. Only the S-N-ANS angle differed between the two groups, i.e., it was greater in the group with the wider clefts (p < 0.05). Coordinates of six landmarks at the base of the nose [sellion (se), subnasale (sn), cleft-side and noncleft-side subalare (sbal-cl and sbal-ncl), and the most posterior point on the lateral piriform margins (PPA-CL and PPA-NCL)] were obtained for analysis of the nasal deformity. On average, the subnasale point was anterior to sellion and deviated to the noncleft side; the cleft-side sbal point was more medial, posterior, and inferior than the noncleft-side sbal point; and the PPA point on the cleft-side piriform margin was more lateral, posterior, and inferior than the PPA point on the noncleft side. These discrepancies were not universally observed. However, in all patients, four findings were observed without exception (p < 0.01): (1) subnasale (sn) was deviated to the noncleft side (mean distance from midline, 5.0 mm; range, 2 to 9.5 mm), (2) the cleft-side alar base (sbal-cl) was more posterior than the noncleft-side alar base (sbal-ncl) (mean difference, 3.6 mm; range, 1 to 5.5 mm), (3) the noncleft-side alar base (sbal-ncl) was further from the midline than the cleft-side alar base (sbal-cl) (mean difference in lateral distances of sbal-ncl and sbal-cl from the midline, 2.8 mm; range, 0.5 to 7 mm), and (4) the cleft-side piriform margin (PPA-CL) was more posterior than the noncleft side piriform margin (PPA-NCL) (mean difference, 2.1 mm; range, 0.5 to 4 mm). In conclusion, the nasal deformity in unilateral cleft lip and palate that has not been operated on is characterized by these four features and increased S-N-ANS angle with increased alveolar cleft width.

Cephalometry↗
PubMed1999

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 the molecular basis of the NCLs to be elucidated and may lead to new strategies for diagnosis and treatment.

Adolescent↗
PubMed1991

Adult type of neuronal ceroid lipofuscinosis.

Adult neuronal ceroid lipofuscinosis (NCL), also called Kufs' disease, is clinically distinct from the other NCLs. It is a rare condition which is difficult to diagnose. More than 50% of the reported cases of Kufs' disease are not adult NCL and correspond very likely to a heterogeneous spectrum of lipidoses. Various clinical and genetic phenotypes of adult NCL may be recognized, one featuring a progressive myoclonus epilepsy. It is important to stress that in contradistinction with the juvenile and protracted juvenile NCL, there is no pigmentary degeneration of the retina. Adult NCL is an autosomal recessive condition but two families have an autosomal dominant inheritance. The diagnosis of adult NCL may be suggested by a careful evaluation of skin, rectal or brain biopsies with the electron microscope but the diagnosis is fraught with many hazards. The pathogenetic defect lies probably in the intracellular processing of lysosomal and perhaps of Golgi membranes. The recent discovery of subunit c of mitochondrial adenosine triphosphate synthase in the stored cytosomes represents certainly an interesting prospect for future developments.

Adolescent↗
PubMed2000

[Neuronal ceroid lipofuscinosis. Closing chapter of a long story].

Neuronal ceroid lipofuscinoses represent a group of diseases which has until quite recently resisted definite elucidation of the underlying defect(s) on the molecular level. The common feature of all the NCLs is a serious and progressive neurological disorder, accompanied, with only few exceptions, by retinal degeneration. Visceral symptoms, despite the presence of the storage process, are absent, or minimal. There are many clinical variants of the disease process, among which a set of standard, historical phenotypes exists found to be linked to specific genotypes. The disorder is inherited and transmitted as an autosomal recessive trait. At the cellular level, it is featured by lyzosomal storage of autofluorescent hydrophobic material, the substantial part of which consists of hydrophobic proteins and esterified dolichol. The dominant protein is the subunit c of mitochondria ATP synthase. In one NCL type (NCL1) the dominant proteins are saposins A and D. Ultrastructural appearance is membranous with several relatively specific patterns with some tendency to condensation or, namely in NCL3 to vacuolar distension. Amorphous appearance is associated with NCL1. The impact of the disease process on the cell biology differs substantially depending on the cell type. The brain neurons are most seriously affected and degenerate, whereas other cell types mostly survive without detectable deterioration. Pathogenesis at the molecular level is now being elucidated using the modern molecular biology techniques, which have already enabled unravelling of a set of genes controlling majority of the standard historical phenotypes. The original infantile form of NCL (NCL1) is now defined as palmitoyl protein thioesterase deficiency (gen at the 1p32 locus), the late infantile form (NCL2) as pepstatin resistant proteinase deficiency (gen at the 11p15.5 locus) and the original juvenile form (NCL3) as a defect of the specific gene (locus 16p11.2-12.3), the product of which, the NCL3 protein, still lacks functional characterization. Two gene loci have been identified in the so-called early juvenile, or variant late infantile NCL. One of them is in the 13q21 locus (NCL5 or Finnish variant late infantile form), the second is in the 15q21-23 one (NCL6). Kufs form remains the least defined form of NCL. Recently two novel NCL variants were described with specific loci. Thanks to introduction of molecular genetic based diagnosis it was possible to recognize, besides the standard phenotype, existence of further phenotypic variants. The phenotype based scheme of NCL has thus been definitely substituted by classification based on genotype and biochemistry.

Humans↗
PubMed1985

Gudden's tegmental nuclei and their connections to the hypothalamus and the reticular formation. II. An experimental study using retrograde double labelling with HRP and iron-dextran in the rat.

12 rats in double experiments were studied for the simultaneous retrograde transport of HRP and Dextran-fer from injections in the mamillary body and in the reticular formation or in selected diencephalic structures into the cells of Gudden's tegmental nuclei. The results of this particular study corroborated the findings of retrograde transport in single experiments (see Part I) showing all the cells of ventral Gudden's nucleus as projecting into the mamillary body, the cells of its peripheral parts as projecting also via a collateral to the lateral hypothalamus, and the cells of its central parts as projecting, in addition, via a collateral to the reticular formation (ncl. pedunculo-pontinus and ncl. pontis oralis). Cells of the ventral part of the ncl. dorsalis tegmenti Guddeni project into the lateral mamillary body and some of then also through a collateral into the whole of the hypothalamus. Part of its cells project independently into the RF (ncl. pontis oralis). The dorsal part of the ncl. dorsalis tegmenti Guddeni projects bilaterally to the ncl. pontis oralis.

Animals↗
PubMed1977

[Morpho-histochemical characterization of the connections between the dorsal part of the lateral geniculate nucleus (LGN) and the brain stem of albino rats) (author's transl)].

After selective application of horseradish peroxidase (HRP) into the dorsal part of the lateral geniculate nucleus (LGN) of the albino rat, cells were labelled through the retrograde transport of the enzyme in the following nuclei of the brain stem: 1. Ncl. raphes linearis, 2. Nel, raphes centralis, 3. Ncl. raphes dorsalis, 4. Ncl. ventralis rostralis lemnisci lateralis, 5. Ncl. coeruleus. Using the glyoxylic acid method to demonstrate biogenic amines we could find serotonine in following areas of the brain stem: 1. region B 7 (Ncl. raphes dorsalis) positive cells; 2. region B 8 (Ncl. raphes centralis) mainly positive fibres; 3. region B 9 (dorsal of the Lemniscus medialis) a few positive cells; 4. mesencephalic reticular formation (Area cuneiformis) network-like fibre structures; 5. dorsal LGN, in the lateral part mildly fluorescing fibres, the remaining LGN showing diffuse fluorescence, 6. Substantia nigra, fluorescing cells. The monosynaptic connections between the mesencephalic raphe nuclei and the dorsal part of the LGN, demonstrated by means of the HRP-method, are characterized as being serotoninergic with the help of fluorescence histochemistry. The character of the transmitter of these connections is compared with results of biochemical and pharmacological investigations.

Animals↗
PubMed1980

[Clinical study of adrenal imaging with 123I-labeled-6 beta-iodomethyl-19-norcholesterol (author's transl)].

Although adrenal scintigraphy with 131I-6 beta-iodomethyl-19-norcholesterol (NCL-6-131I) was used for the first noninvasive imaging of the adrenal glands, it has the disadvantages. These are: (i) relatively high radiation dose to patients, (ii) the long time required for completion of the scan. To solve these problems, 123I-labeled 6 beta-iodomethyl-19-norcholesterol (NCL-6-123I) was synthesized and was used for adrenal scintigraphy in 6 cases. Successful images were obtained with 185 MBq (5 mCi)-260 MBq (7 mCi) of NCL-6-123I, and optimal time required for the satisfactory scan was 2-3 days after the administration. The estimate radiation dose was reduced by using 185 MBq (5 mCi) of NCL-6-123I instead of 18.5 MBq (0.5 mCi) of NCL-6-131I. From the result of this clinical study, NCL-6-123I was preferred for the adrenal scintigraphy.

Adosterol↗
PubMed1997

Cognitive impairments after lesions of the neostriatum caudolaterale and its thalamic afferent in pigeons: functional similarities to the mammalian prefrontal system?

Several studies suggest that the neostriatum caudolaterale (NCL) of birds is equivalent to the mammalian prefrontal cortex (PFC). The aim of the present study was to analyze the functional importance of the NCL and the n. dorsolateralis posterior thalami (DLP), the main thalamic afferent structure of the NCL, in tasks which are generally used to assess mammalian prefrontal functions. The DLP is, due to its subtelencephalic connectivities, different from the mammalian n. mediodorsalis (MD), the thalamic afferent nucleus of the PFC. However, it is possible that in its interactions with the forebrain the DLP subserves similar functions as the mammalian MD. Pigeons with lesions of the NCL, the DLP or, as a thalamic control, the n. geniculatus lateralis, pars dorsalis (GLd) were tested in a delayed alternation and in a go/no-go task. The results demonstrate that NCL-lesioned birds are impaired in both tasks, while DLP-lesioned animals display deficits only in the delayed alternation experiment. The performance of the GLd-lesioned pigeons was not attenuated in either task. It is concluded that the functional similarities of the prefrontal cortex and the NCL extent at least partly to their thalamic afferent structures, although these diencephalic nuclei differ considerably in their anatomy.

Afferent Pathways↗
PubMed1977

[Ultrastructure of neuronal ceroid-lipofuscinoses].

The ultrastructure of autofluorescent residual bodies in the Jansky-Bielschowsky and Spielmeyer-Sjögren types of neuronal ceroid-lipofuscinoses (NCL) is variegated though the curvilinear profiles encompass the basic pattern. The infantile and Kufs' types are marked by granular cytosomes. Deposition of the lipopigments in NCL simulates the distribution of "wear and tear" lipofuscin enabling diagnosis by biopsy and electron microscopy in peripheral organs such as skin, rectum, and especially striated muscle. Pathological findings in the retina of the associated retinopathia pigmentosa entail typical NCL residual bodies in almost every type of retinal cells, a loss of photoreceptors, atrophy of pigment epithelial cells and displacement of melanin into inner layers of the retina. This retinopathia pigmentosa seems to be a regular finding of only the classic late infantile and juvenile human types of NCL since it is mostly absent in the adult human type and the canine NCL. As long as an enzyme deficiency of this autosomal recessive disorder remains unproven, the clinical diagnosis of NCL can only be morphologically confirmed by electron microscopy.

Benzopyrans↗
PubMed1998

MR imaging and localized proton MR spectroscopy in late infantile neuronal ceroid lipofuscinosis.

PURPOSE: Late juvenile neuronal ceroid lipofuscinosis (NCL) is a lysosomal neurodegenerative disorder caused by the accumulation of lipopigment in neurons. Our purpose was to characterize the MR imaging and spectroscopic findings in three children with late infantile NCL. METHODS: Three children with late infantile NCL and three age-matched control subjects were examined by MR imaging and by localized MR spectroscopy using echo times of 135 and 5. Normalized peak integral values were calculated for N-acetylaspartate (NAA), choline, creatine, myo-inositol, and glutamate/glutamine. RESULTS: MR imaging revealed volume loss of the CNS, most prominently in the cerebellum. The T2-weighted images showed a hypointense thalamus and hyperintense periventricular white matter. Proton MR spectra revealed progressive changes, with a reduction of NAA and an increase of myo-inositol and glutamate/glutamine. In long-standing late infantile NCL, myo-inositol became the most prominent resonance. Lactate was not detectable. CONCLUSION: MR imaging in combination with proton MR spectroscopy can facilitate the diagnosis of late infantile NCL and help to differentiate NCL from other neurometabolic disorders, such as mitochondrial or peroxisomal encephalopathies.

Aspartic Acid↗