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Braschinsky, M., Tamm, R., Beetz, C. Sachez-Ferrero, E., Raukas, E., Lüüs, S.M., Gross-Paju, K., Boillot, C., Canzian, F., Metspalu, A. and Haldre, S. (2010) Unique spectrum of SPAST variants in Estonian HSP patients: Presence of benign missense changes but lack of exonic rearrangements. BMC Neurology, 9, 10-17.

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• TITLE: The prevalence of cognitive dysfunction in the estonian population of the hereditary spastic paraplegia

  AUTHORS: Liina Vahter, Mark Braschinsky, Sulev Haldre, Pille Kool, Tiina Talvik, Katrin Gross-Paju

  KEYWORDS: Hereditary Spastic Paraplegia; Cognitive Dysfunction

  JOURNAL NAME: World Journal of Neuroscience, Vol.2 No.2, May 29, 2012

  ABSTRACT: The hereditary spastic paraplegias (HSPs) are neu-rodegenerative disorders of the motor system. The information about the prevalence of the cognitive dysfunction in HSP is inconsistent. The aim of the study was to describe the prevalence of cognitive dysfunction and the cognitive profiles of persons with HSP (pwHSP) compared to healthy controls. Subjects. Participating in the cognition study were 48 persons with HSP from the epidemiological study and 48 healthy controls. Of those with HSP, 81% (39/48) had pure and 19% (9/48) had complex forms. Among pwHSP, 20.8% (10/48) had pathogenic and 14.6% (7/48) had non-pathogenic mutations in the SPAST gene. There were no mutations detected in 31 persons with the SPAST gene. Methods. Neuropsychological test battery, MMSE Results. The results of the neuropsychological tests were significantly lower in persons with HSP than in the controls (Bonferroni correction, p