Batten

Abstract: Immunochemical studies demonstrate that subunit c of mitochondrial ATP synthase is stored in the late-infantile, juvenile and adult forms of Batten's disease. It does not accumulate in the infantile form, or in other conditions involving lysosomal hypertrophy. These results suggest that the defective metabolism of subunit c is central to the pathogenesis of these three forms of Batten's disease.

Abstract: Two patients with the clinical picture of a late infantile and juvenile amaurotic familial idiocy (Batten's disease) have been examined electron microscopically. The typical cytoplasmic inclusion bodies in the Schwann cells of the sural nerve supported this clinical diagnosis. The importance of sural nerve biopsy in patients with a cerebroretinal degeneration is discussed.

Abstract: Batten's disease is a genetic neurodegenerative disease of childhood. Its hallmarks are retinitis pigmentosa and neuronal degeneration. As some types of photoreceptor death in mice are mediated by apoptosis, we investigated whether apoptosis is responsible for retinal and neuronal degeneration in the late infantile and juvenile forms of Batten's disease. Using the terminal dUDP nick end-labeling (TUNEL) staining method, we detected apoptotic neuronal cells in brain from patients and a canine model and in brain and retina from an ovine model for Batten's disease. We confirmed apoptosis by flow cytometry, electron microscopy, and DNA laddering. This is the first inherited neurodegenerative disease involving brain and retina in which apoptosis has been established as the mechanism of neuronal and photoreceptor cell death in both humans and animal models.

Abstract: Jolly R.D., Janmaat A., West D.M. & Morrison I. 1980 Neuropathology and Applied Neurobiology 6,195–209 Ovine ceroid-lipofuscinosis: a model of Batten's disease An inherited neurological disease of sheep was characterized by the intracellular accumulation of autofiuorescent lipopigments in neurones and a wide variety of other cells within the body. The staining, fluorescent, ultrastruc-tural and physical characteristics of the storage material were similar to those found in a heterogeneous group of storage diseases of children known as Batten's disease or the ceroid-lipofuscinoses. The ovine disease did not exactly fit any of the main human entities, but had features in common with both the late infantile and juvenile forms. It was concluded that this was a useful model for studying the pathogenesis of this type of storage disease and for therapeutic trials. A flock of sheep is maintained for this purpose.