Naslov
Identical mutation associated with distinct clinical phenotypes of Friedreich’s ataxia: case report

Autori
Malenica, Maša ; Kukuruzović, Monika ; Bitanga, Suzana ; Krakar, Goran ; Valent, Bernardica ; Cvitanović-Šojat, Ljerka

Izvornik
Paediatria Croatica (1330-1403) 58 (2014), 4; 291-294

Vrsta, podvrsta i kategorija rada
Radovi u časopisima, članak, ostalo

Ključne riječi
Friedreich’s ataxia ; siblings ; mutation

Sažetak
Friedreich’s ataxia is an autosomal recessive disease and the most frequent inherited ataxia. The disease is characterized by expression of the unstable GAA trinucleotide repeat expansion located in the fi rst intron of the FXN gene on chromosome 9. Clinically, it is presented by progressive gait and limb ataxia, absent refl exes with positive Babinski, and cardiomyopathy with no diff erence regarding race and gender. Our patients are teenage siblings in whom analysis of DNA confi rmed both alleles with full mutation in the FXN gene that codes for frataxin. Even though both siblings have full mutation and are both in the same age group, their clinical presentation and course of the disease are rather diff erent. The sister has almost all typical neurologic signs of Friedreich’s ataxia with progressive course despite supportive therapy. The brother shows only hypertrophic cardiomyopathy with no neurologic or skeletal disturbances so far. It is possible that other factors may also play an important role in the clinical presentation and course of Friedreich’s ataxia. The cases of our patients prove that it is not advisable to foresee the clinical course based solely on the number of repeats.

Izvorni jezik
Engleski

Znanstvena područja
Kliničke medicinske znanosti

POVEZANOST RADA