Neuropathology of XXXX .

@entity1 @entity3167 @entity168 @entity508 @entity4 @entity3072 @entity6973 @entity74 @entity1155 @entity2055
A neuropathological study was performed on two @entity1 with @entity168 , one male and one female, from different families. They both died at the age of 41 years. Both @entity1 showed increased excretion of free @entity3167 in the urine, @entity1155 starting in the 1st year of life, @entity2055 and @entity508 . Several family members of both families were affected with the same disease indicating the hereditary @entity74 . The neuropathological investigation revealed strikingly similar changes in the two cases. Macroscopically the cerebral white matter was severely reduced. Histologically marked loss of axons and myelin sheaths was accompanied by pronounced astrocytic proliferation. The remaining axons frequently showed @entity4 surrounded by a myelin sheath. The reduction of the number of myelin sheaths seemed proportional to the numerical reduction of axons. Many cortical nerve cells displayed in relation to age an abnormal amount of @entity6973 . @entity3072 were observed in nerve cells of the neo-cortex, nucleus basalis of Meynert and locus ceruleus. Cerebellum showed moderate loss of Purkinje cells. In the spinal cord axonal degeneration was observed in both ascending and descending tracts.
