Naslov
Clinical features and neuropathologic abnromalities in children with deletion of SMN 2 gene on 5 q 13

Autori
Barišić, Nina ; Lehman, Ivan ; Brčić, Luka ; Sertić Jadranka ; Luetić, Tomislav ; Pažanin, Leo

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

Izvornik
Neurol Croat / - , 2004

Skup
1. hrvatski kongres o neuromuskularnim bolestima

Mjesto i datum
Dubrovnik, Hrvatska, 22.09.2004. - 25.09.2004

Vrsta sudjelovanja
Poster

Vrsta recenzije
Domaća recenzija

Ključne riječi
SMA; SMN1; SMN2; PMP22; demyelinating polyneuropathy; neurogenic atrophy

Sažetak
Spinal muscular atrophy (SMA) is the most common lower motor neuron disease in children. It is known that 95% of SMA patients have homozygous deletion of SMN1 gene. Homozygous SMN2 deletion is present in 5% of normal population and in 36% of adult-onset lower motor neuron disease. Progressive muscle weakness and hypotrophy with clinical signs of lower motor neuron disease were present in three children. Clinical signs of corticospinal tract involvement were present in two of them. Electromyoneurography revealed neurogenic lesion, mostly in distal muscle groups. Demyelinating polyneuropathy was present in two children, according to the results of neurographycal analysis and nerve biopsy examination. Muscle biopsy revealed neurogenic atrophy in all three children. Homozygous SMN2 gene deletion on chromosome 5q13 was present in all of them. In 12-year-old boy it was associated with PMP22 gene duplication. SMN2 copies detection is useful for prediction of severity of SMA. SMN2 deletion might be a coincidental finding or may act as a factor of increased susceptibility for development of motor neuron disease in children.

Izvorni jezik
Engleski

Znanstvena područja
Kliničke medicinske znanosti

POVEZANOST RADA