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Study of a family of Istro-Romanian origin with autosomal dominant amyotrophic lateral sclerosis

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Scientific investigation in the heart of Istria

Author: Antonietta Gemma

We offer on our website some excerpts from an interesting thesis of specialization in neurology presented at the University of Trieste in 1998, signed by Dr. Antonietta Gemma, originally from Lucania and now one of the directors of the complex hospital structure of Neurology of the Gorizia hospital, who carried out an important research on the genetic transmission of amyotrophic lateral sclerosis on a family of Istrian-Romanian origin, settled in Istria. Amyotrophic lateral sclerosis is now part of the pathologies of the population of today's world. It is a serious disease that slowly takes away the patient's motor functions rather than cognitive ones and can manifest itself even at a young age. The causes of ALS are still unknown even if research in recent years has progressed in understanding the pathogenetic mechanisms that are at the basis of this serious disease. In this sense, research conducted on geographically or ethnically isolated populations - such as the reference one - in which this disease manifests itself is particularly useful, because genetic mutations transmitted in a restricted area have proven effective in understanding the pathogenic mechanisms underlying the disease.

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