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Tiina Talvik was born in April 21 in 1938 into a family of teachers. She graduated from The University of Tartu in 1962 and started her career as pediatrician and pediatric neurologist at Tartu Children`s Hospital. From the very first moments of her medical career she was enthusiastic, not only for her research but also for taking care of her patients. After working for a few years, she started to appreciate the importance of genetics and started a medico-genetical service in Estonia. This made her a pioneer of the field at the time. She started working as a geneticist...

This narrative review from JAMA Neurology summarize available information regarding coronaviruses in the nervous system, identify the potential tissue targets and routes of entry of SARS-CoV-2 into the central nervous system, and describe the range of clinical neurological complications that have been reported thus far in COVID-19 and their potential pathogenesis. Emerging data suggest that ACE2 receptors are expressed in multiple regions of the human and mouse brain, including the motor cortex, posterior cingulate cortex, ventricles, substantia nigra, olfactory bulb, middle temporal gyrus, ventrolateral medulla, nucleus of tractus solitarius, and dorsal motor...

According to research presented at the 2021 Muscular Dystrophy Association (MDA) Virtual Clinical and Scientific Conference, on the SPR1NT trial Children with SMA treated with onasemnogene abeparvovec-xioi (Zolgensma®; Novartis) prior to the onset of symptoms, achieved milestones like sitting, standing and walking at an appropriate age, grew as expected without nutritional assistance, and remained free of all forms of mechanical ventilatory support. These findings further underscore the urgent need for newborn screening. As a gene therapy, ZOLGENSMA® (onasemnogene abeparvovec-xioi) is designed to target the genetic root cause of spinal muscular atrophy (SMA) by replacing the function...

In the largest DNA sequencing study of Tourette Disorder (TD) to date, UC San Francisco researchers and their collaborators have unearthed new data suggesting a potential role for disruptions in cell polarity in the development of this condition. The researchers focused on "de novo" mutations, or rare mutations that arise anew at conception, rather than being inherited from parents. They observed that these mutations tend to affect genes with a role in cell "polarity," which is the process by which cells differentiate "top" and "bottom." This is particularly important in the brain, where neurons must form...

Researchers at Children's Hospital of Philadelphia (CHOP) have demonstrated that autism spectrum disorder (ASD) may be caused by defects in the mitochondria of brain cells. The findings were published online by the Proceedings of the National Academy of Sciences. Multiple studies have revealed hundreds of mutations associated with autism spectrum disorder, but there is no consensus as to how these genetic changes cause the condition. Biochemical and physiological analyses have suggested that deficiencies in mitochondria,  might be a possible cause. Recent studies have shown that variants of mitochondrial DNA (mtDNA) are associated with autism spectrum disorder....

Collaborative projects between ICNA and CNS continue to expand. These programs focus on improving infrastructure in different countries in Africa, the Caribbean and Latin America, and include donations of EEG machines, creation of safe EEG laboratories, long-term training of EEG technologies and creation of epilepsy surgery programs (El Salvador, Central America). These programs improved availability of neurodiagnostic tests and specialized surgeries, such as hemispherectomies, temporal lobectomies of implantation of VNS systems for children living in poor resource areas. The key to such initiatives is the ongoing development, support and sustainability through continued interaction with the centres. In collaboration with...

Epilepsy is well recognised worldwide as a common, complex neurological disorder which places a significant burden on people and society. Uncontrolled seizures severely impact a person’s independence and quality of life and place enormous costs on the healthcare system. In recognition of this challenge the province of Ontario in Canada developed a network of comprehensive epilepsy centers where people can be assessed for available epilepsy treatments including potentially curative epilepsy surgery. They also created and disseminated evidence based clinical guidelines to improve epilepsy care throughout the province. Although this was a significant achievement, unfortunately it wasn’t enough. There was...

We are pleased to inform our ICNA members that, following our recent election, Prof. Pratibha Singhi has been elected as the next President Elect of ICNA. Her 4-year term as ICNA President will be from the ICNA Congress in Oct. 2022 to 2026. We wish her our sincerest congratulations and strong support. There were more votes cast in this election than in any prior ICNA election and both candidates received more votes than any previous presidential candidate. Please join me in thanking both Prof. Pratibha Singhi and Prof. Charles Newton for...