Naslov
Screening of the myelin protein zero gene (MPZ) in Croatian patients

Autori
Gršković, Branka ; Mitrović, Zoran ; Stavljenić Rukavina, Ana

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

Izvornik
Neurologia Croatica / Zurak, Niko - Zagreb : Kerschoffset, 2000

Skup
1st Croatian Symposium on Neuromuscular Disorders

Mjesto i datum
Zagreb, Hrvatska, 2000

Vrsta sudjelovanja
Poster

Vrsta recenzije
Domaća recenzija

Ključne riječi
CMT; MPZ gene; mutation screening

Sažetak
Mutations of the MPZ gene have been commonly associated with severe Charcot-Marie-Tooth type1 (CMT1) phenotype accompanied by severe slowing of peripheral nerve conduction velocities (NCV). Recently, mild or asymptomatic CMT2 phenotype with borderline slowing of NCV has also been described. We screened all 6 exons of the MPZ gene for the presence of single base substitutions by single strand conformation polymorphism analysis in 108 subjects from 54 families with different neurodegenerative diseases including 73 subjects from 45 CMT families. Altered mobility patterns were detected in exon 1 and exon 4, each in two members of unrelated families. In exon 1 they were found in a father with mild CMT2 phenotype and healthy daughter. Abnormal bands in exon 4 were found in a father and one son out of three children similarly affected by hereditary spastic paraplegia (HSP) with polyneuropathy. The father has no HSP or CMT signs, however, he has borderline NCV and amplitude of sensory nerve potentials. Our results confirm the infrequent occurence of the MPZ gene sequence changes associated with mild or CMT2 phenotype and little clinical impact within families with other disease.

Izvorni jezik
Engleski

Znanstvena područja
Temeljne medicinske znanosti

POVEZANOST RADA