Publications by authors named "F Borovecki"

Article Synopsis
  • Genetic variants in the tau gene have been linked to increased risk for Alzheimer's disease (AD) and other neurodegenerative disorders, with specific haplotypes H1 and H2 thought to contribute to these risks.
  • The study analyzed 964 individuals, including those with AD, mild cognitive impairment, other dementias, and healthy controls, to assess the impact of certain polymorphisms on cognitive performance.
  • Key findings showed that certain alleles and haplotypes were associated with poorer cognitive test results and pathological levels of cerebrospinal fluid biomarkers, indicating a complex relationship between genetic factors and AD, necessitating further research.
View Article and Find Full Text PDF

Parkinson's disease (PD) is a neurodegenerative disorder characterized by both motor and non-motor symptoms (NMS). NMS including sleep disturbances, depression, anxiety, and constipation are diverse, can precede motor symptoms, and significantly impact patients` quality of life. The severity and type of NMS vary based on age, disease severity, and motor symptoms, and while some respond to dopaminergic treatments, others may be induced or exacerbated by such treatments.

View Article and Find Full Text PDF

In the past decade, next-generation sequencing (NGS) has revolutionised genetic diagnostics for rare neurological disorders (RND). However, the lack of standardised technical, interpretative, and reporting standards poses a challenge for ensuring consistent and high-quality diagnostics globally. To address this, the European Reference Network for Rare Neurological Diseases (ERN-RND) collaborated with the European Molecular Genetics Quality Network (EMQN) to establish an external quality assessment scheme for NGS-based diagnostics in RNDs.

View Article and Find Full Text PDF