Instead, clinicians must rely on both the topographic distribution of the neuronal loss and the finding of some characteristic cytological changes. The precise pattern of these changes, however, varies to some extent, depending on whether the disease is of the classical sporadic type, one of the less common familial types, or the Chamorro form in Guam (1). The primary feature of ALS is anterior horn neuronal cell degeneration and loss. The pathologic features of this process include shrinkage and pyknosis of the large spinal motor neurons (with consequent prominence of lipofuscin), the presence of ghost cells, neuronophagia, and gliosis (2). There is a massive loss of Betz cells and other pyramidal cells from the precentral cortex.
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Niemann: Pick's Disease Niemann Pick disease consists of a group of genetic disorders in which the common feature is a varying degree of sphingomyelin storage in certain tissues of the body. According to the current classification based on the enzymatic defect underlying these disorders, two main groups are distinguished. The first group, which comprises type A, which is characterized by a severe deficiency in acid sphingomyelinase activity, includes infantile neuronopathic form; and type B, an adult chronic form without neurologic symptoms. In the second heterogeneous group called type C, neuro-visceral involvement is massive and lipid metabolism is affected. The sphingomyelin that accumulates in the lysosomes of the Niemann-Pick disease cells is thought to arise from the degradation of cells and their organelles since it is a major component of all mammalian cell membranes, the myelin sheath and the erythrocyte stroma.
Scientific American: 255 (8), 52-60. Pearlson, G. D., et. al. (1990) Brain Atrophy in 18 Patients with Down Syndrome: a CT study. AJNR: 265, 811-816.
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(1990). Utilization of Unilateral and Bilateral Stereotactically Placed Adrenomedullary-Striatal Autografts in Parkinsonian Humans: Rationale, Techniques, and Observations. Neurosurgery; 26: 746-757. 20. Lieberman, A. et.
Gangliosidosis: A Brief Review Of Associated Neuropathology Gangliosidosis is a lysosomal storage disease which affects primarily the nervous system. This disease is the result of an autosomal recessive mutation which causes a lack or deficiency of an enzyme important in the metabolism of gangliosides. This deficient enzyme can vary depending on the type of mutation present causing either GM1 or GM2 gangliosidosis. Each of these will be discussed later, although the overall effects are similar. Increased amounts of gangliosides inside neurons leads to, often lethal, neurodegenerative disorders.
Genetically-altered, dopamine-producing tissues are currently being proposed as an alternative in transplant therapy of PD. As techniques become more refined, such "brain-grafting" may be the panacea for not only PD, but also for other debilitating diseases such as Huntington’s disease and Alzheimer’s disease. According to Fitzgerald (1992:215), the "cardinal pathological feature [of PD] is loss of neurons from the substantia nigra". Most of this loss occurs in the SNpc, of which approxima... ... middle of paper ... ...zgerald, M. J. T. Neuroanatomy: Basic and Clinical. London: Bailliere Tindall, 1992.