Coinciding with the recent observance of International Ataxia Awareness Day. The 3rd Provincial Scientific Conference on Neurosciences and the 1st Workshop on Spinocerebellar Ataxias were held at the Octavio de la Concepción y de la Pedraja Pediatric Hospital.
While ataxias are considered rare diseases in many parts of the world. With an estimated prevalence of five cases per 100,000 inhabitants. They have a significant presence in Cuba, and specifically in Holguin. The latter region shows an incidence of approximately 47 cases per 100,000 inhabitants.
A highlight of the event was the keynote lecture delivered by Dr. Luis Enrique Almaguer Mederos. A member of the Department of Neuromuscular Diseases at the Institute of Neurology, University College London. An institution ranked eighth globally in this field.
During his presentation, the scientist discussed both general and novel aspects of the molecular studies currently underway at the prestigious academic institution regarding Spinocerebellar Ataxia type 2 (SCA2). He also shared the reasons for his visit to Holguin: “The results stem from work carried out over more than 25 years regarding the characterization of SCA2 molecular mechanisms. We are currently conducting a project through the Neurogenetics Laboratory at the London Institute of Neurology. In collaboration with the Carlos J. Finlay Center for Research and Rehabilitation of Hereditary Ataxias (CIRAH). To identify genetic variants that modify the disease’s clinical phenotype.
“This will allow us to identify biomarkers and potential therapeutic targets. Building on that foundation, we will also conduct functional studies to validate these biomarkers and potential therapeutic alternatives for the disease. I am therefore presenting some of the molecular genetics results obtained. Findings that are both globally significant and novel, laying a crucial groundwork for therapeutic development,” he concluded.
Furthermore the event served as a forum for sharing knowledge, experiences, and advances in the care and research of these conditions. Aiming to raise awareness and highlight the needs of those living with them. Cuba reports the highest concentration of people with hereditary ataxias worldwide. With a prevalence of 8.91 cases per 100,000 inhabitants. Among the various forms, Spinocerebellar Ataxia type 2 (SCA2) is the most common in eastern Cuba. While types 3 and 7 appear more frequently in the central and western regions.
According to Dr. Jacqueline Medrano Montero, head of CIRAH, “The most recent national epidemiological study, conducted between 2017 and 2018. She identified 848 people diagnosed with SCA2 across 124 families. This figure represented 87.42 percent of the cases recorded in the study. The research also counted 9,791 descendants at risk. A figure that illustrates the disease’s significant impact on families and the healthcare system. SCA2 is transmitted via an autosomal dominant pattern. This means that each child of a carrier has a 50 percent chance of inheriting the *ATXN2* gene associated with the disease.”
Dr. Roberto Pérez Rodríguez, president of the North-Eastern Branch of the Cuban Academy of Sciences. He also delivered a keynote lecture on the preliminary results of a study. This research utilizes mobile devices and engineering tools to analyze the upper and lower limb movements characteristic of patients with the condition. In this regard, it was explained that this initiative led to the development of a smartphone-based tool to facilitate these studies. This tool serves as a valuable diagnostic aid for specialists involved in ataxia care by analyzing and evaluating the limb movements of affected patients.
Other manifestations of ataxia can include coordination and balance issues, known as gait ataxia. As well as dysmetria (difficulty gauging movement precision) and speech disturbances. Difficulties in performing rapid, alternating limb movements may also occur.
In some individuals, these symptoms are accompanied by difficulties chewing and swallowing food, painful muscle contractures, slowed eye movements, and sleep disturbances. Although the progression and combination of symptoms can vary from patient to patient.
Its work integrates research with family care. Services offered include specialized consultations and comprehensive rehabilitation for individuals with spinocerebellar ataxias, Parkinson’s disease, Huntington’s disease, and other neurological and non-neurological conditions.
The center’s research aims, among other things, to discover a therapy capable of modifying the course and severity of SCA2. It also seeks to improve the quality of life for families. Also to facilitate the training and professional development of researchers, technicians, and other professionals specializing in hereditary ataxias and neurodegenerative diseases.
In this region, where hereditary ataxias have a significant impact, sharing information and strengthening collaborative efforts among professionals, patients, and families is also part of the public health response to what has been identified as a major health issue.
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