The Ultrastructural Characteristics of the Abnormal Cytosomes in Batten-Kufs' Disease

Abstract

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.

Urinary Sediment Dolichol Excretion in Patients with Batten Disease and Other Neurodegenerative and Storage Disorders

“…Even in man, where the greatest research effort has been expended, many nutrients and growth factors have yet to be identified. This situation is exemplified by the different metabolic responses in human infants fed human milk or a variety of synthetic formulas based on partially purified proteins (1)(2)(3)(4)(5)(6)(7)(8). In general the concentration of most amino acids in plasma and urine is greater in infants fed formulas than in those fed human milk, although taurine is a notable exception.…”

Vitamin E deficiency and metabolic deficits in neuronal ceroid lipofuscinosis described by bioinformatics

“…The diseases are heterogeneous, based on four subtypes characterized by clinical pathology and age of onset and have been mapped to the gene loci CLN1 to CLN8 (2,5,10,18,21,32,37).…”

Presence of Abnormal Amounts of Dolichols in the Urinary Sediment of Batten Disease Patients

“…A pathologic hallmark of these conditions is the intracellular accumulation of abnormal cytosomes filled with materials that exhibit a strong greenish-yellow autofluorescence in both neuronal and non-neuronal tissues. Electron microscopy of the storage material shows characteristic ultrastructural patterns described as curvilinear and fingerprint profiles (4). Electron microscopy of urinary sediment from the late infantile cases of Batten disease also shows the presence of curvilinear bodies (5), which are derived from the renal tubular epithelium (6).…”