Pathology

B. W. Volk, Schneck, and M. Adachi (1970) and Adachi and Volk (1975) detail the pathology of TSD. The key pathological features of TSD are most apparent in the brain and related structures, and become more obvious as the disease progresses. The most striking gross change in the brain is its marked increase in weight, especially in individuals who live beyond 2 years of age. Another gross change, most apparent in later stages of the disease, is cerebellar atrophy. At the cellular level, the most noticeable changes involve the neurons, especially those in the cortex. After about 1 year of age, the cerebral neurons have lost their characteristic angular shape and are swollen with material. Later in the disease process there is loss of these neurons. These characteristic neuronal changes are also seen in the spinal cord. The cherry-red spot in the eye observed by Tay (1881) is caused by the loss of ganglion cells and thinning of the nerve cell layer in the macula, which exposes more of the underlying choroidal coat to ophthalmologic examination (Adachi and Volk 1975).

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