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Having a detailed description of the psycholinguistic properties of a language is essential for conducting well-controlled language experiments. However, there is a paucity of databases for some languages and regional varieties, including Québec French. The SyllabO+ corpus was created to provide a complete phonological and syllabic analysis of a corpus of spoken Québec French. In the present study, the corpus was expanded with 41 additional speakers, bringing the total to 225. The analysis was also expanded to include three new databases: unique words, lemmas, and morphemes (inflectional, derivational, and compounds). Next, the internal structure of unique words was analyzed to identify roots, inflectional markers, and affixes, as well as the components of compounds. Additionally, a group of 441 speakers of Québec French provided semantic transparency ratings for 3764 derived words. Results from the semantic transparency judgment study show broad inter-individual variability for words of medium transparency. No influence of sociodemographic variables was found. Transparency ratings are coherent with studies showing the greater transparency of suffixed words compared to prefixed words. Results for participants who speak French as a second language support the association between second-language proficiency and morphological processing., Competing Interests: Declarations. Ethics approval: The original study was approved by the Comité d’éthique de la recherche sectoriel en neurosciences et santé mentale, Institut Universitaire en Santé Mentale de Québec (#356-2014). The semantic transparency online study was approved by the Institutional Review Board of the Faculty of Medicine and Health Sciences at McGill University (#A04-E24-20B) and the Comité d’éthique de la recherche sectoriel en neurosciences et santé mentale, Institut Universitaire en Santé Mentale de Québec (#2021–2143). Consent to participate: All participants provided informed consent to participate. Consent for publication: All authors consent to the publication of this article. Conflicts of interest/Competing interests: None., (© 2025. The Psychonomic Society, Inc.)

A preliminary genealogical investigation of all the known ancestors from the year 1608 of 4 apparently unrelated French Canadian kindreds with Friedreich's ataxia reveals that the original ataxia gene in the province of Quebec was present within a core of no more than 10 families living in Quebec City in the mid-1600's.

A new syndrome of autosomal recessive spastic ataxia has been isolated in the Charlevoix-Saguenay region of Quebec. This syndrome is remarkably homogeneous and includes: spasticity, dysarthria, distal muscle wasting, foot deformities, truncal ataxia, absence of sensory evoked potentials in the lower limbs, retinal striation reminiscent of early Leber's atrophy and the frequent presence (57%) of a prolapse of the mitral valve. Biochemically, many cases show impaired pyruvate oxidation, others have hyperbilirubinaemia and some have low serum beta-lipoproteins and HDL apoproteins. These features are similar to those found in typical Friedreich's ataxia.

We have been able to trace 40 cases of classical Friedreich's disease from 14 previously unrelated French Canadian kindreds to one common ancestral couple arriving in New France in 1634: Jean Guyon and Mathurine Robin. One member of this couple presumably introduced one gene for Friedreich's disease into the French Canadian population. This gene has now been traced over 12 generations to both parents of the present cases. We plan to use this knowledge to study the spectrum of clinical manifestations of this gene and to carry out gene chromosomal localization studies, using the techniques of linkage and of molecular biology. Such studies in rare autosomal recessive disorders have previously been judged to be almost impossible.

We make use of the unique combination of a homogeneous genetic and racial origin in the rural population of Quebec and the facilities of free and universal access to medical care, to study the distribution of the prevalence of Parkinson's disease in the 9 rural hydrographic regions of the Province. Through 3 different methods of ascertainment, confirmed by two control probes, we demonstrate that the prevalence of Parkinson's disease is of uneven distribution within rural areas. We further investigated the characteristics of the regions of high prevalence. These regions which are predominantly agricultural and areas of intensive market gardening were also the areas with the highest use of pesticides.

Oculopharyngeal muscular dystrophy is an autosomal dominant transmitted condition seen mainly in French Canada. The largest number of publications on these patients concerns a Quebec family whose descendants have spread throughout the United States. Families of different ethnic origins have also been reported from around the world, although there is no evidence that the neuromuscular disease reported is the same, despite the similarity of the syndrome. When severe oropharyngeal dysphagia results, these patients can significantly benefit from a cricopharyngeal myotomy.

Friedreich ataxia (FA) is an autosomal recessive, neuro-degenerative disorder in which the pathogenetic mechanism remains unidentified despite extensive biochemical studies. Genetic-linkage studies provide an alternative approach to determining the basic defect. Linkage analysis between FA and 36 polymorphic-blood-group and protein markers has been carried out on three separate patient populations--16 families from the inbred Acadian population of Louisiana, 21 French-Canadian families from Quebec, and nine apparently unrelated British families--in an attempt to determine the chromosomal location of the disease mutation. Neither evidence of linkage to any of the markers investigated nor heterogeneity among the populations was found for any of the comparisons. The negative lod scores exclude the locus for FA from greater than 20% of the genome.

The general outline of the complete prospective study of 50 cases of spino-cerebellar degeneration is given. The general protocol followed, the criteria for inclusion and the mode of analysis are described. The aim of this study was to establish a base of clinical, physiological and biochemical facts upon which a logical and systematic approach to pathogenesis and treatment of Friedreich's ataxia could be attempted.

We described a cluster of 8 independent sibships of Friedreich's ataxia in the St-Fabien parish of Rimouski and have shown that they are all related within 6 generations. The study of this geographic and genetic isolate permitted the investigation of certain unusual features of the disease such as constant myopia, delayed reaction times to pain, flexor spasms, and a rapid evolution.