Search results for "Batten"
showing 10 items of 13 documents
Topographic heterogeneity of amyloid B-protein epitopes in brains with various forms of neuronal ceroid lipofuscinoses suggesting defective processin…
1990
To verify our hypothesis of defective protease inhibitor domains that are encoded by abnormal processing of amyloid precursor protein (APP) in brains of patients with neuronal ceroid lipofuscinoses (NCL), immunohistochemical and cytochemical studies were performed with monoclonal antibodies (mAbs) directed against various domains of APP. For the studies, 22 autopsy brains were used: 12 with different forms of NCL, and 10 control brains. The staining procedure for the avidin-biotin complex (ABC) technique and the postembedding gold-labelled procedure for electron microscopy (EM) were employed. Of all mAbs used for the study, only mAbs generated against amyloid B-protein bound to neural tissu…
Human pathology in NCL
2013
AbstractIn childhood the neuronal ceroid lipofuscinoses (NCL) are the most frequent lysosomal diseases and the most frequent neurodegenerative diseases but, in adulthood, they represent a small fraction among the neurodegenerative diseases. Their morphology is marked by: (i) loss of neurons, foremost in the cerebral and cerebellar cortices resulting in cerebral and cerebellar atrophy; (ii) an almost ubiquitous accumulation of lipopigments in nerve cells, but also in extracerebral tissues. Loss of cortical neurons is selective, indiscriminate depletion in early childhood forms occurring only at an advanced stage, whereas loss of neurons in subcortical grey-matter regions has not been quantit…
The neuronal ceroid-lipofuscinoses: A historical introduction
2013
AbstractThe neuronal ceroid-lipofuscinoses (Batten disease) collectively constitute one of the most common groups of inherited childhood onset neurodegenerative disorders, and have also been identified in many domestic and laboratory animals. The group of human neuronal ceroid-lipofuscinoses currently comprises 14 genetically distinct disorders, mostly characterised by progressive mental, motor and visual deterioration with onset in childhood or adolescence. Abnormal autofluorescent, electron-dense granules accumulate in the cytoplasm of nerve cells, and this storage process is associated with selective destruction and loss of neurons in the brain and retina. The present paper outlines near…
Flexural response of external R.C. beam-column joints externally strengthened with steel cages
2015
Abstract An experimental and theoretical research referred to the flexural behavior of external R.C. joints strengthened with steel cages constituted by steel angles and battens is presented. The subassemblage (beam, column and joint) was subjected to a constant vertical load acting on the column and to a monotonically increasing lateral force applied at the tip of the beam. The control specimen is without strengthening system and it was designed with weak column and strong beam and overstrength in the joint region. Strengthening cases here studied refer to steel caging in the column and both in the beam and in the column. Cyclic response in term of load–displacement curves, crack patterns …
The 8th International Congress on Neuronal Ceroid Lipofuscinoses (Batten Disease) ‐ NCL 2000 20 ‐ 24 September, 2000 Oxford, United Kingdom
2006
Strength and ductility of R.C. columns strengthened with steel angles and battens
2012
Abstract In this paper the behaviour of R.C. members externally strengthened with steel angles and battens subjected to axial force and bending moment is analysed. A fibre model was utilised to predict the moment–curvature diagrams of the strengthened members on the basis of stress–strain curves of the constituent materials (confined concrete, steel bars and angles) recently derived by the author. The stress–strain curves utilised for compressed concrete were able to take into account the confinement effects induced by longitudinal (bars and steel angles) and transverse (stirrups and battens) steel reinforcements. Constitutive laws in compression for confined concrete and steel bars and ang…
Human forms of neuronal ceroid‐lipofuscinosis (Batten disease): Consensus on diagnostic criteria, Hamburg 1992
1993
Incidence of neuronal ceroid-lipofuscinoses in West Germany: Variation of a method for studying autosomal recessive disorders
1992
The incidence of neuronal ceroid-lipofuscinoses (NCL) in West Germany was determined using a novel method which is applicable to other autosomal recessively inherited diseases. Questionnaires were sent to all pediatric departments (answer rate 189/276, 68%), schools for the blind (39/46, 85%), and neuropathological institutes (15/22, 68%). Diagnoses were accepted only when based on firm clinical and/or electron microscopic criteria; 207 such identified patients were sorted according to year of birth. Plotting the cumulative number of new cases per year against the year of birth resulted in a slightly S-shaped curve. Before the year 1962, the curve is relatively flat, probably due to ineffic…
Human NCL Neuropathology
2015
AbstractThe neuronal ceroid lipofuscinoses (NCL) currently encompass fourteen genetically different forms, CLN1 to CLN14, but are all morphologically marked by loss of nerve cells, particularly in the cerebral and cerebellar cortices, and the cerebral and extracerebral formation of lipopigments. These lipopigments show distinct ultrastructural patterns, i.e., granular, curvilinear/rectilinear and fingerprint profiles. They contain−although to a different degree among the different CLN forms−subunit C of ATP synthase, saposins A and D, and beta-amyloid proteins. Extracerebral pathology, apart from lipopigment formation, which provides diagnostic information, is scant or non-existent. The ret…