To begin with, I would like to congratulate all of the researchers on the team for the amazing discovery!
My fellow colleagues and countrymen, along with their colleagues from the USA, have found a new gene mutation that causes hereditary spastic paraplegia.
The gene mutation they found is in the UBAP1 gene. Mutations in this gene are also associated with Alzheimer’s disease and Dementia. You can read more about it here.
Our team of neurologists – Prof. Ivaylo Tarnev, Asoc. Prof. Teodora Tschamova and Asoc. Prof. Albena Dimitrova, have examined 10 families, 2 of which from Bulgaria.
About hereditary spastic paraplegia (HSP)
You can read all about the disease on Wikipedia, but what is really treacherous about it is that at one point it affects the respiratory muscles. And you can guess what happens then.. respiratory failure (the respiratory muscles just become stiff and can’t relax properly).
By now there are 56 genes connected to the disease. Its onset is usually in early childhood and it very much resembles cerebral palsy.
According to Prof. Tarnev, the discovery of this mutation (autosomal-dominant in nature) is putting us one step closer to discovering a gene therapy. What is more, their finding also shows the pathogenesis of the disease and creates a window for prophylaxis.
About the families in Bulgaria
Both families in Bulgarian have been followed up since 1997.
What is interesting is that they are not connected in any way but share the same mutation which points to a higher frequency of the disease than expected.
To sum up…
This is the 14th scientific discovery of the team and was awarded First Award at the National Congress of Neurology.
Sources on the next page!
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