Paediatria Croatica, Vol. 58 No. 4, 2014.
Recenzija, Prikaz slučaja
https://doi.org/10.13112/PC.2014.51
Identical mutation associated with distinct clinical phenotypes of Friedreich’s ataxia: case report
Maša Malenica
; Klinička bolnica Sestre Milosrdnice
Monika Kukuruzović
Suzana Bitanga
Goran Krakar
Bernardica Valent
Ljerka Cvitanović-Šojat
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.
Ključne riječi
Friedreich’s ataxia; siblings; mutation
Hrčak ID:
142361
URI
Datum izdavanja:
23.12.2014.
Posjeta: 1.326 *