Genetic studies have led to major discoveries in the pathogenesis of various neurodegenerative diseases. Ubiquitin-positive familial frontotemporal dementia was recently found to be caused by mutations in the progranulin gene (PGRN), and the major constituent of the inclusions, TDP-43, was subsequently identified. The tau gene (MAPT) causes frontotemporal dementia with parkinsonism linked to ch...

Genetic studies have led to major discoveries in the pathogenesis of various neurodegenerative diseases. Ubiquitinpositive familial frontotemporal dementia was recently found to be caused by mutations in the progranulin gene (PGRN), and the major constituent of the inclusions, TDP-43, was subsequently identified. The tau gene (MAPT) causes frontotemporal dementia with parkinsonism linked to chr...

In this paper we study the group K (n+1) 2n (F) where F is the function field of a complete, smooth, geometrically irreducible curve C over a number field, assuming the Beilinson–Soulé conjecture on weights. In particular, we compute the Beilinson regulator on a subgroup of K (n+1) 2n (F), using the complexes constructed in [dJ1]. We study the boundary map in the localization sequence for n = 3...

Background: Pain is one of the most bothersome symptoms reported in Parkinson’s disease (PD), yet its underlying pathophysiological mechanisms are not well understood. Its prevalence and effects on quality life patients with monogenic forms PD have been systematically explored. Methods: Comprehensive literature review exploring association between ( SNCA , PRKN PINK1 DJ1 LRRK2 ) pain. We includ...

Introduction. Genetic forms of Parkinson’s disease (PD) often cluster in different ethnic groups and may present with recognisable unique clinical manifestations. Our aim was to summarise the current state knowledge regarding genetic causes PD describe first Polish patient SNCA duplication. Methodology. We searched electronic database, PubMed, for studies between January 1995 June 2020 that eva...