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© Borgis - Postępy Nauk Medycznych 1/2012, s. 66
Prof. Urszula Fiszer
The present issue of “Postępy Nauk Medycznych” [„Progress of Medical Science”] is dedicated to Profesor H. Kwieciński and includes papers discussing various problems of contemporary neurology. The OBITUARY was prepared by Professor A. Kamińska
Review paper prepared by Authors: Magdalena Kuźma-Kozakiewicz and Hubert Kwieciński discusses issues related to a fatal neurodegenerative disorder – amyotrophic lateral sclerosis (ALS). Approximately 35% of familial and 10% of sporadic cases are due to mutations in SODI genes (encoding for CuZn superoxide dismutase), FUS/TLS (protein FUS/TLS) and TARDP (protein TDP-43). The article analyses possibilities of applying gene therapy in this disease.
The next article relates to the Huntington’s Disease (Authors: Marta Jethon, Marta Piaścik-Gromada, Elżbieta Zdzienicka, Urszula Fiszer and Wioletta Krysa). This article presents a clinical case involving two sisters aged 64 and 60 years, probably affected with Huntington’s Disease, but with only 35 repeats of trinucleotide CAG in HTT gene identified in both of them. According to my knowledge this is the first desc
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