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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

Barišić, Nina ; Sertić, Jadranka ; Šimić, Goran ; Lehman, Ivan ; Brčić, Luka. Tunel Analysis in correlation with electromyoneurographic abrnomalities in chidlren with proximal spinal muscular atrophies. // Neurol Croat. 2004. str. 64-x

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

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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

Povezanost rada

Kliničke medicinske znanosti