Tunel Analysis in correlation with electromyoneurographic abrnomalities in chidlren with proximal spinal muscular atrophies. (CROSBI ID 499691)
Prilog sa skupa u zborniku | sažetak izlaganja sa skupa | domaća recenzija
Podaci o odgovornosti
Barišić, Nina ; Sertić, Jadranka ; Šimić, Goran ; Lehman, Ivan ; Brčić, Luka.
engleski
Tunel Analysis in correlation with electromyoneurographic abrnomalities in chidlren with proximal spinal muscular atrophies.
Childhood onset proximal spinal muscular atrophy (SMA) presents with considerable clinical variabilty. Study included 22 children aged 11 days to 8 years with spinal muscular atrophy types I-III verified clinically and electromyoneurographically. DNA of affected children was screened for deletions of exons 7 and 8 of the survival motor neuron gene and for deletion of exon 5 of the neuronal apoptosis inhibitor protein gene. Motor nerve conduciton velocity and compound muscle action potential amplitude were decreased in children with spinal muscular atrophy type I. Deletions of exons 7 and 8 of the survival motor neuron gene and of exon 5 of the neural apoptosis inhibitor protein gene were present more often in children with SMA type I-II. TUNEL and ISEL analysis used to assess DNA fragmentation showed a significant number of motor neurons dying in the spinal cord of children with SMA type I by apoptosis. Phenotipic severity in children onset spinal muscular atrophy is directly correlated with the extent of survival motor neurone and neruonal apoptosis inhibitor protein exon deletions. The ultrastructural findings of apoptotic dying neurons in SMA type I suggests that motor neuron apoptosis inhibitors may present a potential therapeutic strategy in this fatal disease.
SMA; TUNEL analysis; ISEL analysis; apoptosis
nije evidentirano
nije evidentirano
nije evidentirano
nije evidentirano
nije evidentirano
nije evidentirano
Podaci o prilogu
64-x.
2004.
objavljeno
Podaci o matičnoj publikaciji
Neurol Croat
Podaci o skupu
2. hrvatski neurofiziološki kongres
poster
22.09.2004-25.09.2004
Dubrovnik, Hrvatska