Naslov
Progressive myoclonic epilepsy and alpha-neuraminidase deficiency

Autori
Sepčić, Juraj ; Marković, Dubravko ; Jedrejčić-Grbin, Silvia ; Franinović-Marković, Jolanda

Vrsta, podvrsta i kategorija rada
Sažeci sa skupova, sažetak, znanstveni

Izvornik
Abstracts / - Lausanne : International Medical Society of Motor Disturbances, 1986

Skup
Congress of the International Medical Society of Motor Disturbances

Mjesto i datum
Lausanne, Švicarska, 19.06.1986. - 21.06.1986

Vrsta sudjelovanja
Predavanje

Vrsta recenzije
Međunarodna recenzija

Ključne riječi
Epilepsy progressive myoclonic; alpha-neuraminidase

Sažetak
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.

Izvorni jezik
Engleski

Znanstvena područja
Kliničke medicinske znanosti

POVEZANOST RADA