Publications by authors named "S Tabrizi"
Huntington's disease (HD) is an autosomal dominant neurodegenerative disease with the age at which characteristic symptoms manifest strongly influenced by inherited HTT CAG length. Somatic CAG expansion occurs throughout life and understanding the impact of somatic expansion on neurodegeneration is key to developing therapeutic targets. In 57 HD gene expanded (HDGE) individuals, ~23 years before their predicted clinical motor diagnosis, no significant decline in clinical, cognitive or neuropsychiatric function was observed over 4.
View Article and Find Full Text PDFBackground: Cancer increases the risk of developing TB disease; however, there are limited data on the magnitude of risk by cancer type and timing after diagnosis of cancer in low TB incidence settings.
Methods: We conducted a nested case-control study of persons in Quebec between 1993 and 2017, including people with TB disease and matched controls. Conditional logistic regression was used to estimate adjusted odds ratios (aORs) of developing TB among people with cancer overall, by sub-type, and by time from cancer to TB diagnosis.
Technical advances over the past two decades have enabled robust detection of cell-free DNA (cfDNA) in biological samples. Yet, higher clinical sensitivity is required to realize the full potential of liquid biopsies. This opinion article argues that to overcome current limitations, the abundance of informative cfDNA molecules - such as circulating tumor DNA (ctDNA) - collected in a sample needs to increase.
View Article and Find Full Text PDFBackground: Genetic testing for Huntington's disease (HD) was initially usually positive but more recently the negative rate has increased: patients with negative HD tests are described as having HD phenocopy syndromes (HDPC). This study examines their clinical characteristics and investigates the genetic causes of HDPC.
Methods: Clinical data from neurogenetics clinics and HDPC gene-panel data were analysed.
Article Synopsis
- Repeat expansion disorders (REDs) are mostly neurological diseases affecting about 1 in 3,000 people worldwide, but true prevalence may be underestimated due to varied symptoms and geographic factors.
- Analysis of genetic data from over 82,000 individuals indicates that the actual frequency of REDs is about 1 in 283, suggesting many cases go undiagnosed.
- Most REDs are found across diverse populations, countering the idea that some are limited to specific ethnic groups, which has important implications for health care and genetic counseling.