bluuebunny/crossref_metadata_2025_split huggingface dataset:
Parental origin of the extra haploid chromosome set in triploidies diagnosed prenatally
Authors: Miny P. , Koppers B. , Dworniczak B. , Bogdanova N. , Holzgreve W. , Tercanli S. , Basaran S. , Rehder H. , Exeler R. , Horst J. 
Published: June 2005

AbstractThe parental origin of the additional chromosome complement in a total of 17 cases of triploidy was determined mainly using highly polymorphic microsatellites. Maternal origin of the triploidy was demonstrated in most cases. To the best of our knowledge, this is the first systematic evaluation of the parental origin of chromosome sets in fetuses who survived until a cytogenetic diagnosis was established. In contrast to previous investigations this study documented a predominance of maternal origin of the extra haploid set mainly due to longer survival time for digynic triploidies. The concept of 2 distinct fetal phenotypes in triploidy is clearly supported by this study. © 1995 Wiley‐Liss, Inc.
Neuronal ceroid‐lipofuscinosis: A clinical and morphological study of 19 patients
Authors: Nardocci Nardo , Verga M. Luisa , Binelli Simona , Zorzi Giovanna , Angelini Lucia , Bugiani Orso 
Published: June 2005

AbstractWe report on clinical, electrophysiological, neuroradiological, and morphological data from 19 patients with different types (late infantile, juvenile, and adult) of neuronal ceroid‐lipofuscinosis (NCL), observed in the last 10 years at the Neurological Institute of Milan.Late Infantile NCL (LINCL) (8 patients, 4m/4f). Age at onset: 2–4 1/2 years. Seizures (6 patients) or decline of mental capacities (2 patients) were the presenting symptoms, followed by myoclonus and ataxia; visual loss and optic atrophy occurred in 6 patients within 3 years. All but 2 children became bedridden within 3 1/2 years. CT and MRI demonstrated different degrees of cerebral and cerebellar atrophy within 3 years from onset of the disease. Ultrastructural studies showed fingerprint profiles (FP) and osmiophilic bodies (OB) in circulating lymphocytes; curvilinear bodies (CB) and FP were detected in eccrine secretory cells.Juvenile NCL (JNCL) (7 patients, 4m/3f). Age at onset: 6–9 years. Visual loss with retinal degeneration was the presenting symptoms, accompanied in all but 2 patients by slight mental impairment. Seizures occurred within 2–4 years. CT and MRI detected cerebral or cerebellar atrophy in those patients (5 patients) with a clinical follow‐up longer than 4 years. Electron microscopy showed FP on circulating lymphocytes, and both FP and CB on skin biopsy specimens.Adult NCL (ANCL) (4 patients, 3 m/1f). Age at onset: 12–50 years. Progressive myoclonus epilepsy (1 patient) or dementia with motor disturbances (3 patients) were the clinical phenotypes of the disease. MRI demonstrated cerebral and cerebellar atrophy within 6 years from onset. Electron microscopy disclosed FP in cytoplasmic vacuoles inside eccrine secretory cells. © 1995 Wiley‐Liss, Inc.
Childhood neuronal ceroid‐lipofuscinoses in Argentina
Authors: Taratuto Ana Lia , Saccoliti María , Sevlever Gustavo , Ruggieri Victor , Arroyo Hugo , Herrero María , Massaro Mario , Fejerman Natalio 
Published: June 2005

AbstractWe report on 30 cases of neuronal ceroid lipofuscinoses (NCL), mainly diagnosed in 1985–1993 in Argentina, whose population is predominantly of European descent. Twenty‐four cases were late infantile Jansky‐Bielschowsky (LINCL) and 6 were juvenile Spielmeyer‐Vogt (JNCL). Sex ratio was female: male, 20:10. Age range and mean at onset and at diagnosis for the LINCL cases were 1–6 years, mean 3.1, and 2–11 years, mean 5.5, and for the JNCL cases, 5–9 years, mean 7, and 9–18 years, mean 13, respectively. Cases were referred for biopsy after neurological examination, and most included complete electrophysiological [electroencephalography (EEG) with photic stimulation, electroretinography (ERG), and visual‐evoked potential (VEP)], neuroimaging, and neurometabolic investigation. NCL was the first suspected clinical diagnosis, followed by mitochondrial encephalopathy in some cases of recent onset. Except for 1 case, clinical findings were homogeneous in LINCL, characterized by refractive epilepsy, mental regression and progressive deterioration, ataxia, myoclonia, and visual loss. Abnormal VEP, ERG, and EEG, with polyphasic high‐voltage spikes when photic stimulation was performed at low frequency, were observed. Visual impairment and retinitis pigmentosa were early manifestations in 4/6 JNCL, followed by mental abnormalities, motor deterioration, and myoclonic jerks, while 2/4 followed an atypical course. In both variants inheritance was autosomal‐recessive. Five out of 27 families had more than 1 affected member, 3 of whom were included in our series. Diagnosis was initially performed in conjunctival biopsy in 3 cases, skin in 5, muscle in 17, and brain in 5, though most cases had a concomitant biopsy from another tissue including nerve, and there was a single brain autopsy. In the LINCL variant, storage material was mainly curvilinear, also exhibiting dense areas and electron‐lucent vacuoles in 1 case. In addition to fingerprint profiles in 4/6 cases, JNCL biopsies presented curvilinear profiles in a skin biopsy in 1 case, and electronlucent vacuoles in 2 cases in a muscle and brain biopsy coexisting within the same inclusion, with the curvilinear profiles surrounded by a unit membrane, while the other 2/6 had granular osmiophilic inclusions with poorly defined rectilinear areas. The purpose of this report is to describe NCL in a country mainly populated by European descendants, in order to contribute data for further collaborative research. © 1995 Wiley‐Liss, Inc.
Classification of the neuronal ceroid‐lipofuscinoses: Expansion of the atypical forms
Authors: Dyken Paul , Wisniewski Krystyna 
Published: June 2005

AbstractThe neuronal ceroid‐lipofuscinoses (NCL) are a group of different genetic diseases. The major types of NCL are expressed by six forms which represent different clinicopathologic and genetic forms. These are CLN‐1, Infantile; CLN‐2, Late Infantile; CLN‐3, Juvenile; CLN‐4, Adult‐Recessive; CLN‐5, Adult‐Dominant; and CLN‐6, Early Juvenile. The distinction between CLN‐4 and CLN‐5 is still disputatious. CLN‐6 has been called CLN‐5.A seventh classification of NCL represents from 12 to 20% of those afflicted. This group consists of an extensive array of atypical types of ceroid‐lipofuscin accumulation in the secondary lysosomes of neurons and cells of other tissues (e.g., skin, conjunctiva, and lymphocytes) or by presumed clinical and genetic relationships. The authors have identified 15 atypical subtypes of NCL. These as a group are here described as a seventh form. Further biochemical, molecular, and genetic studies will identify more precisely the phenotypic and genotypic expression of these “minor” forms of NCL. © 1995 Wiley‐Liss, Inc.
New spielmeyer‐vogt variant with granular inclusions and early brain atrophy
Authors: Philippart Michel , Chugani Harry T. , Bateman J. Bronwyn 
Published: June 2005

AbstractThree females in 2 families were originally diagnosed with Spielmeyer‐Vogt disease (SVD). The clinical course was different from SVD, with vision well preserved until age 10 years, and learning rather than visual difficulties the marker at the onset. Later, regression was unusually rapid, including global dementia, blindness, aphasia, and finally loss of self‐feeding and ambulation between ages 12–18 years. MRI scan in patient 3 documented brain atrophy between ages 8–10 years. Position Emission Tomography (PET) scanning with fluorodeoxyglucose in patients 2 and 3 showed diffusely decreased or absent cortical glucose metabolism, comparable at ages 12 and 18 years, respectively, to the results found in the oldest typical SVD case tested at age 29 years. Fine granular inclusions, instead of the expected fingerprint inclusions, were demonstrated by electron microscopy of lymphocytes, conjunctiva, and skin. Usual markers on chromosome 16p12 were not present in the first family tested. The clinical course, with nonspecific initial behavior difficulties, late onset of visual decline followed by fast global regression, progressive brain atrophy, decreased cortical glucose utilization as shown by PET scanning, and granular tissue inclusions, suggest a genetic variant of SVD. © 1995 Wiley‐Liss, Inc.
Immunocytochemical studies in the ceroid‐lipofuscinoses (Batten disease) using antibodies to subunit c of mitochondrial ATP synthase
Authors: Westlake Valerie J. , Jolly Robert D. , Bayliss Sheryl L. , Palmer David N. 
Published: June 2005

AbstractImmunocytochemistry, using antibodies against subunit c of mitochondrial ATP synthase, has been carried out in the ovine, canine, late infantile, and adult forms of ceroid‐lipofuscinosis. Intensity of staining varied depending on the particular disease, species, fixation regime, and the antibody used. Differential staining of storage cytosomes in neurons of affected sheep and those in the late infantile patient suggested exposure of different epitopes. This was supported by the variable staining using two different antibodies in ovine, late infantile, and adult onset (Kufs) diseases. Immunostaining of muscle in the late infantile, and muscle and ear cartilage in affected sheep can assist diagnosis but positive results may depend on the age of the patient, at least in the latter species. In these tissues there was immunostaining of structures not identified by histochemical or fluorescence microscopy in addition to storage cytosomes that could be identified by these means. Poor or no immunostaining occurred with canine tissues. At the ultrastructural level, storage cytosomes but not other organelles stained with the immunogold method. © 1995 Wiley‐Liss, Inc.
Circadian rhythm studies in neuronal ceroid‐lipofuscinosis (NCL)
Authors: Heikkilä Erika , Hàtònen Taina H. , Telakivi Tiina , Laakso Maija‐Liisa , Heiskala Hannu , Salmi Tapani , Alila Aino , Santavuori Pirkko 
Published: June 2005

AbstractSleep disorders are common in NCL patients. The patients have problems such as frequent awakenings, difficulties with sleep onset, nightmares, and night terrors. The aim of the study was to examine whether the sleep disturbance in NCL can be explained on the basis of desynchronised circadian rhythms. Therefore we studied diurnal patterns of melatonin, cortisol, body temperature, and motor activity of 14 patients.The group consisted of 8 JNCL patients, 5 INCL children, and one boy with Jansky‐Bielschowsky disease of the variant type. There were healthy age‐ and sex‐matched control subjects. The blood samples for serum melatonin and cortisol were collected every 2 hours during 24‐hour periods. Body temperature was recorded continuously for a 24‐hour period by a polygraph. Diurnal motor activity was measured by wrist actigraphy for 5 days.In most of our patients sleep was fragmented and the sleep phase was irregular.Disturbances in the daily hormonal rhythms occurred only in the minority of the patients and only at an advanced stage of the disease. Although disturbances in the body temperature rhythm were found in about half of the patients, a general failure in the circadian regulatory system does not explain the frequent disturbances of the sleep‐wake cycle of the NCL patients. © 1995 Wiley‐Liss, Inc.
Rapid detection of subunit c of mitochondrial ATP synthase in urine as a diagnostic screening method for neuronal ceroid‐lipofuscinoses
Authors: Wisniewski Krystyna E. , Kaczmarski Wojciech , Golabek Adam A. , Kida Elzbieta 
Published: June 2005

AbstractUsing Western blot analysis and the ELISA technique, we showed previously significantly higher levels of subunit c in the urine of individuals with late‐infantile neuronal ceroid lipofuscinosis (LINCL) and some patients with juvenile NCL (JNCL) [Wisniewski et al., J Inherited Metab Dis 17:205–210, 1994]. In an attempt to develop a diagnostic screening test for NCL based on detection of this biochemical marker in urine, we analyzed, using the blotting technique, urine from 7 infantile NCL (INCL), 17 LINCL, and 19 JNCL cases, 30 obligate heterozygotes, and 60 control cases. This analysis confirmed our former data showing significantly higher levels of subunit c in the urine from all LINCL and some JNCL cases. No false positive results were found. This simple analytical method may serve as a fast, non‐invasive screening test for NCL. © 1995 Wiley‐Liss, Inc.
Batten disease and the ATP synthase subunit c turnover pathway: Raising antibodies to subunit c
Authors: Palmer D. N. , Bayliss S. L. , Westlake V. J. 
Published: June 2005

AbstractAnalysis of storage bodies in the ceroid‐lipofuscinoses (Batten disease) has demonstrated a high protein content suggestive of a proteinosis. Direct N‐terminal sequencing has shown that subunit c of mitochondrial ATP synthase is specifically stored in the disease in sheep and cattle, and in the human late infantile and juvenile diseases, as well as in 3 breeds of dogs. No differences have been found between the stored subunit c and that in normal mitochondria. No other mitochondrial components are stored. Different proteins, sphingolipid activator proteins (SAPs or saposins) A and D, are stored in the infantile disease.Linkage studies have shown that different forms of ceroid‐lipofuscinosis are coded for on different genes on different chromosomes. The genes for subunit c, its production, its insertion into mitochondria, and mitochondrial function are normal. This suggests that underlying the various forms of the disease is a family of lesions in the normal pathway of subunit c turnover, after its normal insertion into the ATP synthase complex.Antibodies to subunit c offer one way of mapping that pathway and detecting the sites of lesions. Specific antibodies have been raised against stored subunit c, using a liposomal adjuvant system which proved superior to classical adjuvants. These antibodies are also useful diagnostically, both in Western blotting and in immunocytochemistry.
Canine hereditary ceroid‐lipofuscinosis: Evidence for a defect in the carnitine biosynthetic pathway
Authors: Katz Martin L. , Siakotos Aristotle N. 
Published: June 2005

AbstractThe ceroid‐lipofuscinoses are a group of autosomal‐recessive hereditary lysosomal storage diseases that have been characterized in humans and other mammalian species. In a canine model for the juvenile form of the human disease, a major constituent of the storage bodies is the subunit c protein of mitochondrial ATP synthase that contains an ε‐N‐trimethyllysine (TML) residue. TML is a precursor in carnitine biosynthesis. To determine whether accumulation of the TML‐containing protein could result from a defect in the carnitine biosynthetic pathway, plasma carnitine and trimethyllysine levels were measured in homozygous affected, heterozygous carriers, and in normal dogs. When compared to normal animals, mean carnitine levels were reduced by 67% in affected and 50% in carrier dogs. Mean plasma TML levels were elevated almost 50% above control levels in the carriers, but were decreased by approximately 25% in the affected animals. The changes in plasma carnitine and TML levels in the carriers are consistent with the possibility that the disease involves a defect in the carnitine biosynthetic pathway. Secondary effects of the disease process may account for the apparently contradictory decrease in plasma TML levels in affected animals. © 1995 Wiley‐Liss, Inc.
Physical map of the region containing the gene for Batten disease (CLN3)
Authors: Järvelä Irma E. , Mitchison Hannah M. , Callen David F. , Lerner Terry J. , Doggett Norman A. , Taschner Peter E. M. , Gardiner R. Mark , Mole Sara E. 
Published: June 2005

AbstractCLN3 has been mapped genetically to 16p12, to the interval between D16S288 and D16S383, a sex‐averaged genetic distance of 2.1 cM. Analysis of disease haplotypes for four microsatellite markers in this interval, D16S288, D16S299, D16S298, and SPN, has shown significant allelic association between one allele at each of these loci and CLN3. All four of the associated markers were used as nucleation sites in the isolation of genomic clones (YACs). A contig was assembled which contains 3 of the 4 associated markers and which confirmed the relative order of these markers. Marker D16S272 has been located on the physical map between D16S288 and D16S299. Restriction mapping has demonstrated the location of possible CpG islands. One gene, STP, has been localised on the YAC contig proximal to D16S298 and is therefore a candidate for CLN3. Other genes, including IL4R, SGLT2, and UQCRC2, have been excluded from this region. © 1995 Wiley‐Liss, Inc.
Analysis of Batten disease candidate genes STP and STM
Authors: Munroe Patricia B. , Mitchison Hannah M. , Dooley Thomas P. , Gardiner R. Mark , Mole Sara E. 
Published: June 2005

AbstractWe have sequenced a large proportion of the open reading frames (ORFs) of two phenol sulphotransferase gene transcripts (STP and STM) from three patients with Batten disease. This was done using reverse transcription and PCR amplification of total RNA followed by direct sequencing of the PCR products. No mutations or changes have been observed in either gene after sequencing 93% of the STP ORF and 72% of the STM ORF. Work is in progress to finish sequencing both genes which will allow the confirmation or exclusion of these phenol sulphotransferases having a role in the development of Batten disease. © 1995 Wiley‐Liss, Inc.
Phenol sulfotransferases: Candidate genes for Batten disease
Authors: Dooley Thomas P. , Probst Pam , Obermoeller R. Dawn , Siciliano Michael J. , Doggett Norman A. , Callen David F. , Mitchison Hannah M. , Mole Sara E. 
Published: June 2005

AbstractBatten disease (juvenile‐onset neuronal ceroid lipofuscinosis; JNCL) is an autosomal recessive neurodegenerative disorder, characterized by the cytosomal accumulation of autofluorescent proteolipopigments in neurons and other cell types. The Batten disease gene (CLN3) has not yet been identified, but has been mapped to a small region of human chromosome area 16p12.1‐p11.2. We recently reported the fortuitous discovery that the cytosolic phenol sulfotransferase gene (STP) is located within this same interval of chromosome 16p. Since phenol sulfotransferase is expressed in neurons, can sulfate lipophilic phenolic compounds, and is mapped near CLN3, STP is considered as a candidate gene for Batten disease. YAC and cosmid cloning results have further substantiated the close proximity of STP and a highly related sulfotransferase (STM), encoding the catecholamine‐preferring enzyme, to the CLN3 region of chromosome 16p. In this report, we summarize some of the recent progress in the identification of two phenol sulfotransferase genes (STP and STM) as positional candidate genes for Batten disease. © 1995 Wiley‐Liss, Inc.
Carrier detection of Batten disease (Juvenile neuronal ceroid‐lipofuscinosis)
Authors: Taschner Peter E. M. , de Vos Nanneke , Post Jan G. , Meijers‐Heijboer E. Johanna , Hofman Irene , Loonen M. Christa B. , Pinckers Alfred J. L. G. , Bleeker‐Wagemakers Elisabeth M. , Gardiner R. Mark , Breuning Martijn H. 
Published: June 2005

AbstractBatten disease, or the juvenile form of neuronal ceroid lipofuscinosis, is an autosomal recessive neurodegenerative disorder manifesting with progressive blindness, seizures, and dementia, leading to an early death. The CLN3 locus which is involved in Batten disease had been localized to chromosome 16p11.2. Linkage disequilibrium has been observed between CLN3 and polymorphic microsatellite markers D16S288, D16S299, and D16S298, making carrier detection and prenatal diagnosis by haplotype analysis possible. For the purpose of carrier detection, haplotypes from Dutch Batten patients and their families were constructed. Most patients share the same D16S298 allele, suggesting the presence of a founder effect in the Dutch population. In a large inbred Dutch family, in which Batten disease occurs with high frequency, haplotype analysis has been carried out with high accuracy for carrier detection. © 1995 Wiley‐Liss, Inc.
Bone marrow transplantation in Batten disease (Neuronal ceroid‐lipofuscinosis). Will it work? Preliminary studies on coculture experiments and on bone marrow transplant in late infantile Batten disease
Authors: Lake B. D. , Henderson D. C. , Oakhill A. , Vellodi A. 
Published: June 2005

AbstractLymphocytes from a patient with preclinical late infantile Batten disease were cultured alone and with lymphocytes from donors, and the fate of the curvilinear inclusions characteristic of the disease was monitored by electron microscopy. There was no evidence of transfer of deficient enzyme or factor that might have caused removal of the stored material, and the curvilinear profiles remained in the cultured cells without signs of degradation. Cells stimulated to divide with phytohaemaglutinin did not exhibit storage in culture suggesting that storage is a function of the age of the cell. The patient received a bone marrow transplant at 2 7/12 years while still clinically unaffected, and the effect on lymphocytes and cells in skin and rectal biopsies was monitored by electron microscopy over a period of 9 months until the donor marrow became displaced by the host cells. He has had one seizure and now has neurophysiological evidence of late infantile Batten's disease. Bone marrow transplant may have no effect on material already stored but might prevent further build‐up and halt the onset of the clinical symptoms although very recent studies on early (fetal) transplants in sheep with a form of Batten disease have shown no benefit. © 1995 Wiley‐Liss, Inc.
PCR‐based study of the presence of Y‐chromosome sequences in patients with Ullrich‐Turner syndrome
Authors: Coto Eliecer , Toral Joaquín F. , Menéndez María J. , Hernando Inés , Plasencia Ana , Benavides Ana , López‐Larrea Carlos 
Published: June 2005

AbstractThe presence of Y chromosome sequences in Ullrich‐Turner syndrome (UTS) patients has been suggested in previous work. Karyotype analysis estimated at about 60% of patients with a 45, X constitution and molecular analysis (Southern blot analysis with several Y chromosome probes and PCR of specific sequences) identified the presence of Y chromosome material in about 40% of 45, X patients.We have developed a very sensitive, PCR‐based method to detect Y specific sequences in DNA from UTS patients. This protocol permits the detection of a single cell carrying a Y sequence among 105 Y‐negative cells. We studied 18 UTS patients with 4 Y‐specific sequences. In 11 patients we detected a positive amplification for at least one Y sequence. The existence of a simple and sensitive method for the detection of Y sequences has important implications for UTS patients, in view of the risk for some of the females carrying Y‐chromosome material of developing gonadoblastoma and viriliza‐tion. Additionally, some of the UTS associated phenotypes, such as renal anomalies, could be correlated with the presence of Y chromosome specific sequences. © 1995 Wiley‐Liss, Inc.
Supernumerary chromosome marker (1) in a developmentally delayed child
Authors: Lanphear Nancy , Lamb Allen , Oppenheimer Sonya , Soukup Shirley 
Published: June 2005

AbstractA 15‐month‐old boy with mild developmental delay and several minor anomalies was found to be mosaic 46, XY/47, XY, +mar(l). The marker r(l) was a small de novo ring identified by FISH with a painting type DNA probe. © 1995 Wiley‐Liss, Inc.