Jason C Jacob

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A 17-year-old patient had myoclonic epilepsy caused by Lafora's disease. Biopsy showed polysaccharide accumulations within membrane-bound spaces in skeletal muscle cells. Some of the accumulations were morphologically similar to Lafora bodies as they have been seen in the brain. The histochemical reactions of these membrane-bound spaces suggested that they(More)
Patients with Batten-Kufs' disease may be divided into three groups by electronmicroscopy of their storage deposits. In the first group, those characterized by curvilinear profiles, there is a strong correlation with a particular clinical syndrome, the late infantile form of the disease. In the second group, characterized by finger-print profiles, there is(More)
A case of spinal subdural hematoma occurring in association with anticoagulant therapy is reported. Seven similar cases from the literature are reviewed the emphasis on the clinical features, investigation, and the results of treatment. The prognosis for recovery is good, only if the condition is diagnosed and the clot evacuated before severe spinal cord(More)
Long-chain polyisoprenol alcohol (dolichols) levels are significantly increased in the urinary sediment of patients with infantile, late-infantile, and juvenile forms of neuronal ceroid-lipofuscinosis (NCL). The values in obligate heterozygotes for these diseases are similar to those in patients with other neurological diseases and in healthy controls.(More)