Publications by authors named "Francois Evoy"
Dominantly inherited GAA repeat expansions in FGF14 are a common cause of spinocerebellar ataxia (GAA-FGF14 ataxia; spinocerebellar ataxia 27B). Molecular confirmation of FGF14 GAA repeat expansions has thus far mostly relied on long-read sequencing, a technology that is not yet widely available in clinical laboratories. We developed and validated a strategy to detect FGF14 GAA repeat expansions using long-range PCR, bidirectional repeat-primed PCRs, and Sanger sequencing.
View Article and Find Full Text PDFArticle Synopsis
- Researchers identified a pathogenic GAA repeat expansion in the first intron of the gene that encodes fibroblast growth factor 14, linked to late-onset cerebellar ataxia (LOCA) in six French Canadian patients.
- The expansion was significantly associated with LOCA in both French Canadian and German populations, indicating a strong genetic link with high odds ratios.
- Analysis revealed that the expansion occurred in various percentages of patients from different backgrounds, and affected individuals showed reduced RNA and protein expression related to the condition.
Background: There is a high prevalence of low back pain and neck pain in Canada, and a large proportion can be treated without spine magnetic resonance imaging (MRI). We hypothesized that there is overuse of lumbar and cervical spine MRI. The primary objective was to describe the proportion of appropriate, possibly appropriate, and inappropriate MRI requests for low back pain and neck pain.
View Article and Find Full Text PDFObjective: To identify and review available evidence on the diagnostic yield of brain computed tomographies (CTs) and magnetic resonance images (MRIs) in first-episode psychosis, and examine yield in our own institution (Centre Hospitalier Universitaire de Sherbrooke, Sherbrooke, Quebec).
Method: Using MEDLINE (1966 to October 2007) and EMBASE (1980 to October 2007), we identified and analyzed studies that examined imaging yields in first-episode psychosis; yield being defined as the percentage of scans showing abnormalities that may result in psychosis. We also retrospectively analyzed diagnostic yields in 46 patients hospitalized in our institution between 2001 and 2006 for first-episode psychosis.
Susac syndrome is a rare disease of unknown pathogenesis. It is caused by a microangiopathy affecting the arterioles of the brain, retina, and cochlea, giving the classic clinical triad of subacute encephalopathy, visual loss secondary to retinal branch occlusions, and sensorineural hearing loss. The features of four cases of this syndrome are presented.
View Article and Find Full Text PDF