One hundred years of forensic sciences in Quebec: the evolution of scientific techniques since 1914

In 2014, Quebec's forensic science laboratory (Laboratoire de sciences judiciaires et de medicine légale) is celebrating its 100th anniversary. Since its foundation by Dr. Derome in 1914, scientific techniques in the various areas of forensic science have greatly evolved. Not only was the Laboratory the first forensic science institution in North America, it has been a pioneer for several analytical methods. The early days of the Laboratory as well as the specific evolution of the departments and divisions of biology, chemistry, arson and explosion, questioned documents, forensic pathology, odontology and anthropology, toxicology and administration will be reviewed here

Cent ans de sciences judiciaires au Québec : l'évolution des techniques scientifiques depuis 1914

En 2014, le Laboratoire de sciences judiciaires et de médicine légale du Québec célèbre son 100ième anniversaire. Depuis sa fondation par Dr Wilfrid Derome en 1914, les techniques scientifiques ont grandement évolué dans les différents domaines des sciences judiciaires. Non seulement le laboratoire fut la première institution de sciences judiciaires en Amérique du Nord, mais plusieurs méthodes analytiques y furent aussi développées. Les débuts du Laboratoire ainsi que l'évolution spécifique des différentes directions et divisions de la biologie, chimie, incendies et explosions, documents, pathologie judiciaire, odontologie et anthropologie, toxicologie et administration seront relatés ici

Spinocerebellar ataxia 27B: episodic symptoms and acetazolamide response in 34 patients

Ashton C et al report a retrospective multi-centre cohort of 34 patients from Canada, France, Austria and Australia with spinocerebellar ataxia 27B, describing the common feature of episodic ataxia and other episodic features, as well as the inefficacy of acetazolamide in these patients

Deep Intronic FGF14 GAA Repeat Expansion in Late-Onset Cerebellar Ataxia

BACKGROUND: The late-onset cerebellar ataxias (LOCAs) have largely resisted molecular diagnosis. METHODS: We sequenced the genomes of six persons with autosomal dominant LOCA who were members of three French Canadian families and identified a candidate pathogenic repeat expansion. We then tested for association between the repeat expansion and disease in two independent case-control series - one French Canadian (66 patients and 209 controls) and the other German (228 patients and 199 controls). We also genotyped the repeat in 20 Australian and 31 Indian index patients. We assayed gene and protein expression in two postmortem cerebellum specimens and two induced pluripotent stem-cell (iPSC)-derived motor-neuron cell lines. RESULTS: In the six French Canadian patients, we identified a GAA repeat expansion deep in the first intron of FGF14, which encodes fibroblast growth factor 14. Cosegregation of the repeat expansion with disease in the families supported a pathogenic threshold of at least 250 GAA repeats ([GAA]≥250). There was significant association between FGF14 (GAA)≥250 expansions and LOCA in the French Canadian series (odds ratio, 105.60; 95% confidence interval [CI], 31.09 to 334.20; P<0.001) and in the German series (odds ratio, 8.76; 95% CI, 3.45 to 20.84; P<0.001). The repeat expansion was present in 61%, 18%, 15%, and 10% of French Canadian, German, Australian, and Indian index patients, respectively. In total, we identified 128 patients with LOCA who carried an FGF14 (GAA)≥250 expansion. Postmortem cerebellum specimens and iPSC-derived motor neurons from patients showed reduced expression of FGF14 RNA and protein. CONCLUSIONS: A dominantly inherited deep intronic GAA repeat expansion in FGF14 was found to be associated with LOCA. (Funded by Fondation Groupe Monaco and others.)