Naslov
Tunel Analysis in correlation with electromyoneurographic abrnomalities in chidlren with proximal spinal muscular atrophies.

Autori
Barišić, Nina ; Sertić, Jadranka ; Šimić, Goran ; Lehman, Ivan ; Brčić, Luka.

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

Izvornik
Neurol Croat / - , 2004

Skup
2. hrvatski neurofiziološki kongres

Mjesto i datum
Dubrovnik, Hrvatska, 22.09.2004. - 25.09.2004

Vrsta sudjelovanja
Poster

Vrsta recenzije
Domaća recenzija

Ključne riječi
SMA; TUNEL analysis; ISEL analysis; apoptosis

Sažetak
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.

Izvorni jezik
Engleski

Znanstvena područja
Kliničke medicinske znanosti

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