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At least 19 recordsLinked to original sources
PubMed1977

Detection of canine Batten disease with the EEG.

Although it has been suggested that EEG changes appear early in the course of human Batten disease, these observations have been made only after the onset of clinical abnormalities and without immediate pathological correlation. In this brief report we have been able to document for the first time, abnormal EEGs in a strain of dogs proposed as a model for Batten disease. The degree of abnormality in the canine EEG correlated with the degree of clinical involvement and with the presence of pathological inclusions, resembling those seen in human Batten disease. In younger dogs, abnormal EEGs were obtained even before clinical manifestations of the disease. The large amplitude discharges reported with photic stimulation in children with the late infantile form of Batten disease were not elicited in the dog model. However, this dog strain is a model for the juvenile rather than the late infantile form although similarities between dogs and both forms of human Batten disease were seen. It is proposed that the EEG is both a method for early detection of this disease as well as a tool ot measure the degree of involvement. This information may be of use in relation to future therapeutic trials.

Animals↗
PubMed1977

Diagnosis of Batten disease from urinary sediment: a brief report.

Urinary sediment from a patient with the juvenile form of Batten disease was examined by electron microscopy. Membrane bound fingerprint profiles were found which were similar to those previously described in a biopsy from this patient's thyroid gland. These findings might represent a useful diagnostic tool.

Humans↗
PubMed1977

Identification of retinoyl complexes as the autofluorescent component of the neuronal storage material in Batten disease.

Cytosomes filled with intensely fluorescent material in the form of curvilinear bodies were isolated by density gradient centrifugation followed by pronase digestion from the cerebral cortex of a child who had died at age 7 from the late infantile form of Batten disease. Forty-three percent of the dry weight of the storage material was extracted by a mixture of chloroform and methanol, leaving a waterinsoluble amorphous fluorescent residue. Infrared spectroscopy, proton magnetic resonance spectrscopy, and mass spectrometry of this residue strongly suggested the presence of retinoyl polyenes linked to a small peptide. Base hydrolysis and methanolysis yielded retinoic acid and methyl retinoate, respectively. Ozonolysis yielded a product derived from the substituted cyclohexenyl ring of vitamin A. The results indicate that the fluorescent component of the neuronal storage material is a retinoyl complex and is not derived from peroxidized polyunsatured fatty acids as previously thought.

Brain↗
PubMed1992

Ceroid lipofuscinosis in the border collie dog: retinal lesions in an animal model of juvenile Batten disease.

Ceroid lipofuscinosis, an inherited disorder of lipopigment accumulation, was identified in a group of Border Collie dogs. The dogs developed mental, motor, and visual signs between age 15 and 22 months and progressed rapidly to severe neurological disease. The principal signs were blindness and gait and behavioural abnormalities with progressive dementia. Lipopigment accumulation was severe in neurones and glial cells of the central nervous system and was present in some visceral cells. Inclusions with variable ultrastructure were common in all cells of the retina, but the pigment accumulation did not damage the retinal architecture. The cytoplasmic inclusions were granular, sudanophilic, eosinophilic, and autofluorescent. Ultrastructural morphology varied, but fingerprint and curvilinear patterns predominated. The retinal lesions in the Border Collies were similar to those in English Setters with ceroid lipofuscinosis, but were much less severe than in juvenile human ceroid lipofuscinosis. This disorder bears a close resemblance to ceroid lipofuscinosis in English Setters and is another useful model for Batten's disease.

Animals↗
PubMed1975

Ceroid-lipofuscinosis (Batten disease). Fluorescein angiography, electrophysiology, histopathology, ultrastructure, and a review of amaurotic familial idiocy.

Three children with ceroid-lipofuscinosis and their mother wer investigated fluorescein angiographically and electrophysiologically after definitive diagnosis of the oldest child had been made from a brain biopsy specimen studied biochemically, histopathologically, and ultrastructurally. The diagnostic features of the two classes of familial amaurotic idiocy (the gangliosidoses and the ceroidlipofuscinoses) are reviewed with emphasis on the importance of the fundus picture and fluorescein angiographic study in differentiating the two classes of disease and in identifying affected siblings.

Adult↗
PubMed1978

Early-juvenile Batten's disease--a recognisable sub-group distinct from other forms of Batten's disease. Analysis of 5 patients.

In most cases where rectal biopsy is performed to diagnose Batten's disease, there is good correlation between biopsy appearance, age of onset, clinical course and electrophysiological parameters. As a result 3 forms of the disease have been recognised; infantile, late infantile and juvenile. In a review of rectal biopsy in Batten's disease at the Hospital for Sick Children, Great Ormond Street, we have studied the few cases in which no such correlation appeared to exist. In 5 the features are sufficiently similar to suggest a further recognisable sub-group which could be descriptively called "early juvenile". The clinical course, electrophysiological features and the absence of vacuolated lymphocytes in this subgroup are as found in the late infantile form, whereas the biopsy findings are identical to those of the juvenile form. By analogy with some of the mucopolysaccharidoses we speculate that the genes of the late infantile and juvenile forms of Batten's disease are allelic and that the "early juvenile" sub-group is a genetic compound presenting as an intermediate phenotype.

Child↗
PubMed1977

The ultrastructural characteristics of the abnormal cytosomes in Batten-Kufs' disease.

Patients with Batten-Kufs' disease may be divided into three groups by electronmicroscopy of their storage deposits. In the first group, those characterized by curvilinear profiles, there is a strong correlation with a particular clinical syndrome, the late infantile form of the disease. In the second group, characterized by finger-print profiles, there is great diversity as to age and type of presentation. This is paralleled by diversity in the deposits. To the third group belongs the infantile form of the disease, as well as rare patients with later onset. Pathological diagnosis can be reliably, conveniently and consistently made from biopsy of skin by electronmicroscopy, and usually from biopsy of skeletal muscle as well.

Age Factors↗
PubMed1992

Mapping the gene for juvenile onset neuronal ceroid lipofuscinosis to chromosome 16 by linkage analysis.

The ceroid-lipofuscinoses are a group of inherited neurodegenerative disorders characterised by the accumulation of autofluorescent lipopigment in neurones and other cell types. The underlying biochemical defect is unknown. Juvenile onset neuronal ceroid lipofuscinosis (Batten disease; Spielmeyer-Vogt disease) is an autosomal recessive trait. Linkage studies were undertaken to determine the location of the Batten disease (CLN3) mutation. Studies were carried out on 205 members of 42 families in which there were 76 affected individuals. Families originated from 7 North European countries and Canada. Serum samples from 23 families, including a total of 48 affected children, were tested for a set of "classical markers." A positive lod score was found with the haptoglobin (Hp) system. The combined male and female maximum lod score was 3.00 at theta = 0.00 and theta = 0.26, respectively. This provided an indication of localisation to the long arm of chromosome 16. Linkage analysis was then carried out in 42 families using DNA markers for loci on human chromosome 16. The maximal lod score between Batten disease and the locus D16S148 calculated for combined sexes was 6.05. No recombinants were observed. Multilocus analysis using 5 loci indicated the most likely order to be HP-D16S151-D16S150-CLN3-D16S148-D16S147. Work is in progress to refine the genetic and physical localisation of the Batten disease gene using additional markers in this region and a panel of somatic cell hybrids. Methods are now available which should allow the gene to be isolated and characterised.

Child↗
PubMed1978

Serum fatty acids and peroxidase abnormalities in Batten's disease.

The linoleic acid content of serum lipids was measured in 10 paitents with Batten's disease and 11 healthy control subjects by gas liquid chromatography. The fatty acid patterns of serum lipids in this disease may reflect a primary or secondary deficiency in essential fatty acid (linoleic acid) probably related to a glutathione peroxidase abnormality.

Adolescent↗
PubMed1977

Lipoyl dehydrogenase activity of erythrocytes in Spielmeyer-Vogt-Batten's disease.

Using the method for the determination of the lipoyl dehydrogenase activity in intact erythrocytes described by Seet and Lee (1975), it was demonstrated that in patients with Spielmeyer-Vogt-Batten's disease, this activity was around the lower limit of normal. In these patients, the enzymatic activity is significantly reduced to such an extent that it may affect the function and metabolism of the erythrocytes.

Dihydrolipoamide Dehydrogenase↗
PubMedDate not supplied

Chloroquine-induced cytosomes with curvilinear profiles in muscle.

A patient with systemic lupus erythematosus (SLE) was treated with chloroquine therapy for four years after the onset of her illness. Nine years after cessation of chloroquine, muscle weakness developed as part of the SLE. Four muscle biopsies performed for diagnostic purposes revealed varying degrees of inflammatory change as well as distinctive cytosomes with curvilinear profiles (CCPs). These CCPs were identical to those reported in Batten disease, a degenerative disorder of children which has a clinical course different from SLE. The CCPs seen in this case of SLE are thought to result from the effect of chloroquine on membrane systems within muscle cells. This report calls attention to the fact that CCPs are not unique to Batten disease bu may also occur in muscle of SLE patients treated with chloroquine.

Adult↗