Rare Diseases, Neurologist Bertini: “Friedreich’s Ataxia is a Multisystemic Disease”

“Friedreich’s ataxia (AF) is a progressive, multisystem neurological disease with autosomal recessive transmission.. It is therefore inherited from both parents”. The rare disease is caused by “an alteration of the frataxin gene, which determines a substantial reduction. This is an essential protein that is associated with the internal membrane of mitochondria, organelles responsible for the creation of cellular energy. Frataxin deficiency leads to a multifaceted mitochondrial dysfunction that compromises many organ systems, in particular the nervous, cardiac and endocrine systems”. This was stated by the neurologist Enrico Bertinihead of the Neuromuscular and Neurodegenerative Diseases Research Unit at the Bambino Gesù Children’s Hospital in Rome, participating in the press conference organized today in Milan by Biogenone week after World Ataxia Day, celebrated every September 25th.

AF, the most common of the hereditary ataxias (representing 50% of cases), “manifests itself with” neurological symptoms such as “difficulty with balance and lack of coordination of movements that progresses over time – continues the expert – Sometimes there are also abnormal eye movements and changes in speech. Blindness and deafness can be other manifestations of the pathology, often – but not always – late, as well as urinary urgency. The initial coordination disorder is then followed by a fatigue disorder and many patients develop scoliosis”. In 90% of cases, the initial signs are neurological, while in the remaining 10% there are other warning signs, such as scoliosis or cardiomyopathy. In Italy, it is estimated that there are about 600-700 patients with Friedreich’s ataxia and, in general, a prevalence of about 1-2 people in 50 thousand in the world, 1 in 20 thousand-50 thousand in Europe, with higher incidences in the south-west of France, Ireland and northern Spain. The prevalence in Africa is significantly lower, while the Canadian prevalence is higher.

The classic onset, in 75% of cases, is between the ages of 15 and 24, but there are also early and late onset forms: in the first case the pathological progression is faster, while in the second it is slower. “This disease affects in most cases young adults or adolescents – Bertini specifies – In recent years there has been more talk about this disease as therapeutic possibilities are emerging and, therefore, it has become important, in the medical field, to focus on early diagnosis, as the earlier you intervene, the better you can influence the progression of this disease”. In fact, if until now the only available therapies involved the administration of drugs and antioxidant supplements and constant physiotherapy, today there is a new therapeutic option: omaveloxoloneDeveloped in the United States and approved by the American FDA in 2023 and by the European EMA in February 2024, omaveloxolone was recently included by AIFA for use in the 648 regimen, with the indication for subjects over 16 years of age.