engleski

Progressive myoclonic epilepsy and alpha-neuraminidase deficiency

Among the progressive hereditary myoclonic epilepsy, stands out Cherry-red spot - myoclonus syndrome, in which the cause of disorder lies in an inactivity of lysosomal enzyme alpha-neuraminidase. In an autochthonous family from Croatia two patients, cousins, with macular chery-red spots, progressive myoclonic and generalized convulsions, but without dementia and with normal appearence have been found. Three of their relatives had nephrosialidosis. Pathohistologic investigation proved storage disorder. Skin fibroblasts culture of three patients showed a complete deficiency of an alhpa (2-6) neuraminidase, which has obviously caused various disorders in this family. The activity of others lysosomal enzymes and beta-galactosidase was within the normal values. Etiology of similar paroxysmal motor disturbances is discussed.

Epilepsy progressive myoclonic; alpha-neuraminidase

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