A Bulgarian family with gerstmann-straussler-scheinker disease and p.P102L mutation in PRNP gene
Medical Review (Med. pregled), 2024, 60(2), 55-60.
S. Zhelyazkova1,2, V. Guergueltcheva3,4, М. van den Broeck5, A. Jordanova6,7, Ch. van Broeckhoven7, I. Tournev1,2,8
1 Clinic of Nervous System Diseases, University Hospital “Alexandrovska”
2 Department of Neurology, Medical University – Sofia
3 Clinic of Neurology, University Hospital “Sofiamed” – Sofia
4 Sofia University Sv. Kliment Ohridski – Sofia
5 Neurodegenerative Brain Diseases group, VIB Center of Molecular Neurology, University of Antwerp, Belgium
6 Molecular Medicine Centre, Department of Medical Chemistry and Biochemistry, Medical Faculty, Medical University – Sofia
7 Molecular Neurogenomics Group, VIB Center of Molecular Neurology, University of Antwerp, Belgium
8 Department of Cognitive Science and Psychology, New Bulgarian University – Sofia
Abstract. Gerstmann-Sträussler-Scheinker (GSS) disease is a rare autosomal-dominant prion disorder, which is clinically characterized by a progressive cerebellar ataxia followed by cognitive impairment. We present a Bulgarian family with GSS disease where the proband is a 30-year-old female patient with early onset dementia, characterized by loss of initiative, planning and behavior control. Her father is a 57-year-old male with late onset progressive cerebellar ataxia and mild cognitive impairment. MRI of the proband revealed brain atrophy with a hyperintense signal in the frontal cortex. MRI of her father showed cerebral but also cerebellar atrophy. The proband was genetically diagnosed with GSS disease and the analysis of the PRNP gene showed a proline/leucine substitution at codon 102.
Key words: Gerstmann-Straussler-Scheinker disease, early onset dementia, ataxia, PRNP gene mutation
Address for correspondence: Sashka Zhelyazkova, MD, UMHAT Alexandrovska, Clinic of Neurology, 1, Sv. G. Sofiiski Blvd., 1431, Bg – Sofia, e-mail: doc_sashka@abv.bg