Evaluation of the Cases with Friedreich Ataxia

Abstract

Friedreich ataxia is an autosomal recessive neurodegenerative disease, which is the most common cause of inherited ataxias. About 95% of the patients demonstrate an expansion of a GAA trinucleotide repeat in intron 1 of the FRDA gene on chromosome 9q13. This leads to reduced levels of frataxin which has an important role in iron homeostasis. Friedreich ataxia is the result of accumulation of iron in mitochondria leading to excess production of free radicals, defects in specific mitochondrial enzymes, enhanced sensitivity to oxidative stress, and eventually freeradical mediated cell death. Currently there is no effective therapy for the disease, but antioxidant therapy has shown promise especially in cardiac involvement. Early identification of individuals with Friedreich ataxia and precise characterization of impairments and functional limitations gain importance as symptomatic treatment, rehabilitation and genetic counseling are considered. Here, we present the clinical findings of five cases with Friedreich ataxia who had homozygous GAA trinucleotide expansion and emphasize that Friedreich ataxia should be considered in the differential diagnosis of cases who present with progressive ataxia.

Friedreich Ataksisi Olan Hastaların Skolyoz Cerrahisinde Anestezi Yönetimi: Dört Olgu Sunumu

“…This leads to a decrease in the level of frataxin protein, which has an important role in iron homeostasis. Iron accumulation in mitochondria and specific mitochondrial enzyme deficiencies caused by this, increased susceptibility to oxidative stress and free radical mediated cell death are responsible for the pathogenesis of Friedreich's ataxia (3). There is no specific reference about the use of muscle relaxants in anesthesia management for scoliosis surgery of patients with FRDA.…”

The Anesthetic Management in A Patient With Friedreich Ataxia

“…Bu durum demir homeostazında önemli bir role sahip olan frataksin proteininin düzeyinde azalışa yol açar. Friedreich ataksi hastalığının patogenezinden mitokondrilerde demir birikimi ve bunun neden olduğu spesifik mitokondriyal enzim eksiklikleri, oksidatif strese artmış duyarlılık ve serbest radikal aracılı hücre ölümü sorumludur (2). Friedreich ataksisi'nin başlangıç semptomları 20'li yaşların başında ortaya çıkar.…”