Niemann Brain

Cataplexy and cataplexy-like symptoms Moderate (60) High (80) Infrequent association with Niemann-Pick disease, Norrie disease, or brain tumors Variable severity diagnosed clinically or electrophysiologically... 

In patients with Niemann-Pick disease, inherited deficiency of this enzyme causes spingomyelin to accumulate in lysosomes of the brain, bone marrow, and other organs. 

For example, Niemann-Piclc disease is caused by a rare genetic defect in the enzyme sphingomyelinase, which cleaves phosphocholine from sphingomyelin. Sphingomyelin accumulates in the brain, spleen, and liver. The disease becomes evident in infants, and causes mental retardation and early death. More common is Tay-Sachs disease, in which ganglioside GM2 accumulates in the brain and spleen (Fig. 2) owing to lack of the enzyme hexosaminidase A. The symptoms of Tay-Sachs disease are progressive retardation in development, paralysis, blindness, and death by the age of 3 or 4 years. 

The second major class of sphingoglycolipids found in mammalian cells is the ganglioside. It was first isolated from the brains of humans who died as the result of Niemann-Pick disease and later was also identified in those persons who were diagnosed with Tay-Sachs disorder. The gangliosides are present in... 

Intracerebral extension of the hemorrhage occurs in at least a third of patients. Patients with a large hematoma and depressed consciousness might require immediate evacuation of the hematoma, preferably preceded by occlusion of the aneurysm (Niemann et al. 2003). Alternatively, extensive craniectomy can be employed to allow expansion of the brain, as for maUgnant middle cerebral artery infarction (Smith et al. 2002). Subdural hematomas are rare but life threatening and should be removed. 

G-3) Niemann-Pick Dbease. Sphingomyelin collects in the brain due to a deficiency in sphingomyelinase, which normally removes phosphorocholine from sphingomyelin. Among other Uiings, there are mental retardation and early childhood death. 

The monocarboxylic acid connected in amide conjugation to the amino group of the sphingosine residue proved to consist mainly of the Ci8-fatty acid. The gangliosides of Niemann-Pick disease and metachromatic leucodystrophy differ from those of normal, infant and adult brains, in that C24-acids were not detected. The development of new ultramicro methods led to the exact (differential) determination of the constituents of these gangliosides215 of disease. 

Of the four subtypes of Niemann-Pick disease, type A is the most severe. It is inherited as a recessive disorder (i.e., a defective copy of the gene must be inherited from each parent) that results in an absence of the enzyme sphingomyelinase. The absence of this enzyme causes the storage of large amounts of sphingomyelin and cholesterol in the brain, bone marrow, liver, and spleen. 

Tay-Sachs disease is a lipid storage disease caused by an absence of the enzyme hexosaminidase, which functions in gan-glioside metabolism. As a result of the enzyme deficiency, the ganglioside, shown in Section 18.4, accumulates in the cells of the brain causing neurological deterioration, like Niemann-Pick disease, it is an autosomal recessive genetic trait that... 

Reid, P. C., Sakashita, N., Sugii, S., Ohno-Iwashita, Y., Shimada, Y., Hickey, W. E. and Chang, T.-Y. A novel cholesterol stain reveals early neuronal cholesterol accumulation in the Niemann-Pick type Cl mouse brain. J Lipid Res 45 (2004) 582-591. 

Xie, C., Burns, D. K., Turley, S. D. and Dietschy, J. M. Cholesterol is sequestered in the brains of mice with Niemann-Pick type C disease but turnover is increased. J Neuropathol Exp Neurol 59 (2000) 1106-1117. 

Tay-Sachs Gaucher s Niemann-Pick Brain Spleen, Uver Several, particularly liver and spleen Glycolipid (gangUoside G t) Cerebrosides containmg glucose Sphingomyelins... 

Tay-Sachs, Gaucher s, and Niemann-Pick 8.38 Cerebrosides, brain tissue... 

Bartsch, G. The nature of the lipids in the brain in Niemann-Pick s disease. In Cerebral lipidoses. A Symposium (Cumings, J.N., and Low-enthal. A., eds.), p. 159-163. Springfield, Illinois Charles C.Thomas Publisher 1957... 

It has been shown that the lipid composition of the brain of mentally diseased adults is often similar to that of normal infants much more sulphatide is found in cases of metachromatic leucodystrophy [69, 72, 177] large amounts of one ganglioside appear in Tay-Sachs disease [96, 177] and a greatly increased sphingomyelin content of the brain is found with the Niemann-Pick disease [164, 177]. The cerebroside sulphate esters of the brain of normal persons and of those suffering from metachromatic leucodystrophy have been isolated by TLC and shown to be identical [69]. 

The cerebroside content of the brain is very low and comparable to that of the infantile brain (Rouser et al. 1965). There is no increase with progression of the disease. Since cerebrosides and sphingomyelin are the main components of the myelin-lipids, a decrease of these classes is in accordance with the histologic finding of demyelination (Brante 1949, Johnson et al. 1949). Similar changes occur in Niemann-Pick disease with central nervous system involvement, in meta-chromatic leucodystrophy and in Alzheimer s disease (Rouser et al. 1965). The case of WiLDi (1950) which has been reported as a mixed type of TSD and Gaucher s disease is an exception since here cerebrosides were increased in addition to gangliosides. 

Rouser, G., C. Galli, and G. Kritchevsky Lipid class composition of normal human brain and variations in metachromatic leucodystrophy, Tay-Sachs, Niemann-Pick, chronic Gaucher s and Alzheimer s disease. J. Amer. Oil Chemists Soc. 42, 404 (1965). 

Table 2. Fatty acid composition of brain sphingomyelin in Niemann-Pick disease...

---