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stem and spinal cord The enzymatic defect can be found in the serum, white blood cells, and cultured broblasts from the skin or amniotic uid, the latter giving parents the option of abortion to prevent a presently untreatable and fatal disease Testing for hexosaminidase A also permits the detection of heterozygote carriers of the gene defect Detection of this enzyme defect is complicated by the fact that more than 50 mutations of the alpha subunit of the beta hexosaminidases have been isolated and the enzyme itself is normal in one form of activator enzyme de ciency Fortunately, only three mutations account for 98 percent of the form that is common in Jews The brain is large, sometimes twice the normal weight In addition, there is a loss of neurons and a reactive gliosis; remaining nerve cells throughout the CNS are distended with glycolipid Biopsies of the rectal mucosa disclose glycolipid distention of the ganglion cells of the Auerbach plexus, but the need for this procedure has been obviated by enzyme analysis of white blood cells Under the electron microscope, the particles of stored material appear as membranous cytoplasmic bodies Retinal ganglion cells are distended with the same material and, together with fat- lled histiocytes, cause the whitish gray rings around the fovea, where there are no nerve cells, as noted above The same neuropathologic process has been found in a few congenital cases in which there was a rapidly progressive decline of a microcephalic infant Kolodny and Raghavan have described two other, probably allelic variants of the hexosamine A defect One presents as a childhood spinocerebellar degeneration, the other as a progressive spinal muscular atrophy in juveniles and young adults, due presumably to widespread involvement of spinal motor neurons (see further on) Tay-Sachs disease is untreatable but can be prevented by testing all individuals of Jewish origin for the recessive trait Since this screening was instituted at the E K Shriver Center in 1968 and adopted throughout the state, it is essentially unknown in Massachusetts In Sandhoff disease, which affects non-Jewish infants, there is a de ciency of both hexosaminidase A and B, moderate hepatosplenomegaly, and coarse granulations in bone marrow histiocytes The clinical and pathologic picture is the same as in TaySachs disease except for the additional signs of visceral lipid storage Occasionally these visceral organs are not enlarged In recent years numerous variants of hexosaminidase A and B de ciency have been identi ed They differ clinically from TaySachs disease in having a later onset, less extensive brain involvement (cortical neurons relatively spared and intense affection of basal ganglia as well as cerebellar and spinal neurons) Accordingly, the clinical expression of the variants appearing in childhood,.

adolescence, and adult life take the form of athetosis, dystonia, ataxia, and motor neuron paralysis; mental function can be normal

Infantile Gaucher Disease (Type II Neuronopathic Form, Glucocerebrosidase De ciency)

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MSD MSD is an older version of WinMSD that was shipped with DOS and early Windows systems MSD reports a smaller set of information and is seldom used anymore However, MSD does have the advantage of being able to run under DOS Recovery CD Many manufacturers of PC systems provide a Recovery CD with the purchase of a system The Recovery CD is typically a mirrored or copied image of the operating system and all of the base products that came with the system When you perform a recovery using this CD, be sure to follow directions carefully because these CDs frequently reinitialize the hard drive and set the system to the configuration that it came out of the box with It is possible that all data will be lost in that situation CONFIGSAFE CONFIGSAFE is a tool that saves a snapshot of your system and can be used to save and restore your system to a configuration at a certain point in time This program also tracks changes and provides some troubleshooting

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