Mental Health in the Cree Peoples of Northern Quebec: Relationships Among Trauma, Familial Psychological Distress, and Mood or Anxiety Disorders.

OBJECTIVE: This study examined the physical and mental health of Cree adults, as well as the personal, clinical, and environmental factors associated with the presence of lifetime anxiety and mood disorders. METHODS: Mental health was assessed using the computerised version of the Diagnostic Interview Schedule (CDIS-IV), and standardised instruments were used to assess physical health, addiction severity, and psychological distress in 506 randomly selected participants from 4 Northern Cree communities in Quebec. RESULTS: Overall, 46.1% of participants reported chronic medical problems, 42.1% were current smokers and 34.5% met the DSM-IV criteria for an anxiety or mood disorder. Individuals with an anxiety or mood disorder were younger, predominantly female, and with higher educational levels, and a large proportion (47.7%) met the lifetime criteria for substance dependence. Hierarchical regression determined that anxiety or mood disorders were associated with serious problems getting along with parents, a history of physical and sexual abuse, and a lifetime diagnosis of substance dependence. Overall, 29.7% of Cree adults reported sexual abuse, 47.1% physical abuse, and 52.9% emotional abuse. CONCLUSIONS: This study highlights the high rates of physical and mental health problems in Cree communities and the association among parental history of psychological problems, history of abuse, and psychological distress. Participants expressed a desire for additional medical and psychological treatments to address the patterns of abuse, trauma, and mental disorders that are burdening the Cree communities in Northern Quebec.

Exploring Community Mobilization in Northern Quebec: Motivators, Challenges, and Resilience in Action.

Nunavimmiut (people of the land) are the Indigenous peoples of the northern peninsula of the province of Quebec. Communities of Nunavik and its regional organizations have been making concerted efforts in implementing community-based strategies to support family wellbeing. These community strategies are grounded in many of the values underpinning community psychology: favoring empowerment-oriented approaches, fostering community capacity, and transforming organizational cultures to allow for new modes of interaction, as well as new policies and practices that are grounded in community and culture. Despite the growing support and expectation for community mobilization, there is still very little research on the processes and challenges to such mobilization. In this study, we explored the unique challenges and facilitators to community endeavors in northern Quebec in order to better understand the complex dynamics and the strengths that Inuit build upon. We first used a focused ethnographic approach in the context of a 5-year community mobilization project in Nunavik. We then conducted 12 individual interviews and two small group interviews with Inuit working on community-based wellbeing-oriented mobilization projects in four additional communities. Results expose how sociogeographical realities and colonialism influence the process of community mobilization. They also highlight the values and motivational factors that lead community members to move beyond these influences.

Dietary habits in New France during the 17th and 18th centuries: An isotopic perspective.

OBJECTIVE: Little attention has been given, so far, to the early colonial diet in New France from an isotopic perspective. Historical records that compare France to New France suggest a shift toward a more diverse diet, including a higher protein intake due to an improvement in living conditions in the New World, despite the retention of ancestral dietary habits. This hypothesis will be explored here. MATERIALS AND METHODS: Stable carbon (organic and mineral) and nitrogen isotopes were measured on 43 individuals from Notre Dame cemetery (first Catholic parish church cemetery in Montreal, 1683-1803) as well as 13 French compatriots from La Rochelle, France (Protestant Hospital Cemetery, 1765-1792). Intragroup variation (age at death, sex, and/or burial location) was investigated and compared to compiled data from various northeastern North American sites (N = 99). RESULTS: The Notre Dame sample means are as follows: -19.6‰ versus VPDB for δ13 Ccollagen , -12.22‰ versus VPDB for δ13 Ccarbonate , and 11.5‰ versus AIR for δ15 N. They are significantly lower than both La Rochelle (-18.4‰, -11.67‰, and 12.7‰, respectively, p ≤ .005) and the northeastern North American groups used for this comparison (p = .000). DISCUSSION: The isotopic values obtained from Notre Dame cemetery suggest that the diet was mainly based on C3 resources with limited C4 resources. Although different from all comparable contemporary sites, colonial Montreal's diet remains most similar to La Rochelle, France. This study agrees with historians who have suggested that French dietary traditions seem to have been retained among the early colonial inhabitants of Montreal.

Predictors of hospitalization of tuberculosis patients in Montreal, Canada: a retrospective cohort study.

BACKGROUND: Hospitalization is the most costly health system component of tuberculosis (TB) control programs. Our objectives were to identify how frequently patients are hospitalized, and the factors associated with hospitalizations and length-of-stay (LOS) of TB patients in a large Canadian city. METHODS: We extracted data from the Montreal TB Resource database, a retrospective cohort of all active TB cases reported to the Montreal Public Health Department between January 1996 and May 2007. Data included patient demographics, clinical characteristics, and dates of treatment and hospitalization. Predictors of hospitalization and LOS were estimated using logistic regression and Cox proportional hazards regression, respectively. RESULTS: There were 1852 active TB patients. Of these, 51% were hospitalized initially during the period of diagnosis and/or treatment initiation (median LOS 17.5 days), and 9.0% hospitalized later during treatment (median LOS 13 days). In adjusted models, patients were more likely to be hospitalized initially if they were children, had co-morbidities, smear-positive symptomatic pulmonary TB, cavitary or miliary TB, and multi- or poly-TB drug resistance. Factors predictive of longer initial LOS included having HIV, renal disease, symptomatic pulmonary smear-positive TB, multi- or poly-TB drug resistance, and being in a teaching hospital. CONCLUSIONS: We found a high hospitalization rate during diagnosis and treatment of patients with TB. Diagnostic delay due to low index of suspicion may result in patients presenting with more severe disease at the time of diagnosis. Earlier identification and treatment, through interventions to increase TB awareness and more targeted prevention programs, might reduce costly TB-related hospital use.

Germline TP53 mutational spectrum in French Canadians with breast cancer.

BACKGROUND: Specific germline mutations in the hereditary breast-ovarian cancer susceptibility (HBC/HBOC) genes, BRCA1, BRCA2 and PALB2, have been shown to recur in French Canadians of Quebec, Canada, and this has been attributed to common ancestors. Germline TP53 mutation carriers are known to segregate in Li-Fraumeni syndrome families, which feature young age of onset breast cancer. We have reported rare TP53 mutation carriers in French Canadian HBC families, though none recurred possibly due to the limited number of cancer families investigated. Here we describe TP53 germline mutations found in French Canadian cancer families provided from hereditary cancer clinics; investigate 37 new BRCA1 and BRCA2 mutation-negative HBC/HBOC families for the TP53 mutations; and assess the frequency of TP53 mutations in a 1235 French Canadian breast cancer cases not selected for family history of cancer. METHODS: TP53 mutation-positive pedigrees from French Canadian cancer families were provided from local hereditary cancer clinics. Bidirectional Sanger sequencing of all protein encoding exons of TP53 was performed using peripheral blood lymphocyte DNA from breast/ovarian cancer probands from 37 HBC/HBOC families of French Canadian descent. Targeted bidirectional Sanger sequencing assay of regions containing the identified TP53 mutations was performed on 1235 French Canadian breast cancer cases not selected for family history cancer. RESULTS: Five new TP53 mutations were identified in six pedigrees from hereditary cancer clinics. No deleterious mutations were identified in cancer probands from 37 HBC/HBOC families. A targeted mutation screen of the 1235 breast cancer cases identified a c.844C>T [p.Arg282Trp] mutation carrier. This mutation was also found among the six mutation-positive cancer families provided by the local hereditary cancer clinics. The targeted screen also uncovered a new TP53 mutation, c.685T>C [p.Cys229Arg] that was found in two breast cancer cases. All TP53 mutation carriers were among the 656 women with breast cancer diagnosed less than 50 years of age. CONCLUSIONS: In all six new TP53 mutations were identified in French Canadians, where two each occurred in independently ascertained cases/families. Although all newly identified breast cancer mutation carriers reported a family history of cancer, none were consistent with features of Li-Fraumeni syndrome families.

Stillbirth and infant mortality in Aboriginal communities in Quebec.

BACKGROUND: Infant mortality and stillbirth rates among Aboriginal people are higher than in the rest of Canada, but little is known on the perinatal health status of First Nations people living on reserves. This study examines stillbirth and infant mortality rates among Aboriginal people in Quebec, notably, First Nations people living on reserves, and compares these rates with those of the province's non-Aboriginal population. DATA AND METHODS: Data on live births and stillbirths in Quebec from 1989 to 2008 were extracted from Statistics Canada's Infant Birth-Death Linked File. Postal codes were used to identify births and stillbirths on First Nations reserves, in the Cree and Naskapi communities (not on reserves), and in Inuit communities. Associations between type of community and mortality were measured using logistic regression models. RESULTS: Aboriginal people had a higher stillbirth rate than non-Aboriginal people in Quebec, but this difference was not significant after adjusting for socio-demographic characteristics (mothers' age and education, community size and isolation). Neonatal mortality was also higher among the Inuit. Post-neonatal mortality was higher among Aboriginal people, and was unrelated to differences in the mothers' age and education or to community size and isolation. Adjusted odds ratios (95% confidence intervals) for post-neonatal mortality on reserves, in the Cree and Naskapi communities, and in Inuit communities were, respectively, 1.57 (1.16 - 2.12), 3.01 (2.14 - 4.24) and 4.29 (3.09 - 5.97). INTERPRETATION: Stillbirth and infant mortality are higher among Aboriginal people than non-Aboriginal people in Quebec. The differences in post-neonatal mortality are particularly pronounced.

When genetics and genealogies tell different stories-maternal lineages in Gaspesia.

Data from uniparentally inherited genetic systems were used to trace evolution of human populations. Reconstruction of the past primarily relies on variation in present-day populations, limiting historical inference to lineages that are found among living subjects. Our analysis of four population groups in the Gaspé Peninsula, demonstrates how this may occasionally lead to erroneous interpretations. Mitochondrial DNA analysis of Gaspesians revealed an important admixture with Native Americans. The most likely scenario links this admixture to French-Canadians from the St. Lawrence Valley who moved to Gaspesia in the 19th century. However, in contrast to genetic data, analysis of genealogical record shows that Native American maternal lineages were brought to Gaspesia in the 18th century by Acadians who settled on the south-western coast of the peninsula. Intriguingly, within three generations, virtually all Métis Acadian families separated from their nonadmixed relatives and moved eastward mixing in with other Gaspesian groups, in which Native American maternal lines are present in relatively high frequencies. Over time, the carriers of these lines eventually lost memory of their mixed Amerindian-Acadian origin. Our results show that a reliable reconstruction of population history requires cross-verification of different data sources for consistency, thus favouring multidisciplinary approaches.

Assessment of Canadian Cree infants' birth size using the WHO Child Growth Standards.

OBJECTIVES: The WHO Child Growth Standards (CGS) which were recently adopted by the Canadian Pediatric Society were used to assess the relative size of Cree newborns. METHODS: Birth weight, length, and head circumference, and growth indices of 2,127 Cree newborns were compared with the CGS. Maternal characteristics of pregnancy and infant birth outcomes were recorded and stratified by birth weight category. RESULTS: Among Cree newborns, 2.4% were low birth weight (LBW) (<2,500 g) and 36.5% were high birth weight (≥4,000 g). The median birth weight (g) for Cree male (4,030) and female (3,900) term newborns was higher than for male (3,346) and female (3,232) newborns of the CGS. Fewer than 1.5% of Cree infants had z-scores <-2SD from the WHO CGS median for BMI-for-age, length-for-age, weight-for-age, or head circumference-for-age whereas 4.6, 7.8, and 23.4% percent had z-scores >+2SD from the WHO CGS median for weight-for-length-for-age, BMI-for-age and head circumference-for-age, respectively. The majority (53.4%) of pregnancies was complicated by obesity and 10.3% were complicated by gestational diabetes mellitus (GDM). Infants weighing 4,000-4,499 g had a comparable prevalence of operative delivery (15.4%) as infants weighing 2,500-3,999 g (13.7%). Infants weighing ≥4,500 g had the highest prevalence of birth injuries (14.0%) and being born to women whose pregnancies were complicated by GDM (20%). CONCLUSIONS: Cree newborns were larger than newborns of the CGS. The appropriateness for Cree infants of defining low and high birth weight from the WHO CGS is uncertain and may lead to inaccurate prognosis of postnatal health.

The influence of poverty and social support on the perceived health of children born to minority migrant mothers.

OBJECTIVE: Poverty and low social support are common among minority migrant families. Little is known about their impact on the health of children of minority migrants to Canada. This study examined the associations between maternal perception of child's health and migration status, and examined the specific role of poverty and low social support in these associations. DESIGN: Data from the first two rounds of the Quebec Longitudinal Study of Child Development (QLSCD) were analysed. The sample included 1990 children at 17 months of age, classified according to their mother's migration status: children of minority migrant mothers (n=165) and Canadian-born mothers (n=1825). Maternal perception of child's health status and social support were measured at 17 months, household income was measured at 5 and 17 months. Multivariable logistic regressions were performed; interactions of migration status with poverty and social support were tested. RESULTS: Poverty and low social support were more common among minority migrant mothers than among Canadian-born mothers. Children of minority migrant mothers who were 'never poor' and reported high levels of social support were perceived in better health (OR 0.42; 95% confidence interval (CI): 0.19-0.91) than children of Canadian-born mothers (reference group). In contrast, children of minority migrant mothers who were 'always poor' and reported low social support were perceived in worse health (OR 6.32; 95% CI: 1.69-23.71) compared to the reference group. CONCLUSION: In Quebec, economic hardship and lack of social support are common realities among minority migrants with young children. Combined exposure to poverty and low social support is most detrimental to the perceived health of children of minority migrants.

[First initiatives for social integration of the mentally ill in one phase of pre-deinstitutionalization. The example of Saint-Jean-de-Dieu, 1910-1950]. / Premières initiatives d'intégration sociale des malades mentaux dans une phase de pré-désinstitutionnalisation. L'exemple de Saint-Jean-de-Dieu, 1910-1950

This article on the first initiatives of social integration of the mentally ill, using the example of the Hôpital St-Jean-de-Dieu, explores the implementation of a period of deinstitutionalization in the early decades of the 20th century. Our study is situated in the recent historiography that offers a rereading of the period just prior to the Quiet Revolution in Quebec. We intend to contribute by demonstrating that the policies, strategies and practices of the Sisters of Providence and the psychiatrists of St-Jean-de-Dieu developed a system of deinstitutionalization that reintegrated patients into their family as early as the 1910s, half a century before the first wave of deinstitutionalization of the 1960s was orchestrated by the authors of the Bédard report.

[The psychiatric revolution in Quebec, 1950-1962. From asylum to community psychiatry and the open door]. / La révolution psychiatrique au Québec, 1950-1962. De l'asile à la psychiatrie communautaire et l'open-door.

Psychiatry opens to the world at a time when the very basis of psychiatric practice, namely the asylum, is called into question. Studies appear in Quebec and Canadian journals concurrent to the introduction of new formulas for care, such as the delivery of psychiatric services in general hospitals and clinics, that allow patients to be treated outside the walls of psychiatric hospitals. In addition, postwar psychiatry takes an optimistic view toward the future of children with impairments through the creation of specialized schools and workshops. From the mid-20th century onward, the thinking in psychiatry centres on the open door.

Carriers of recessive WNK1/HSN2 mutations for hereditary sensory and autonomic neuropathy type 2 (HSAN2) are more sensitive to thermal stimuli.

Hereditary sensory and autonomic neuropathy type 2 (HSAN2) is a rare recessive genetic disorder characterized by severe sensory loss affecting the tactile, thermal and nociceptive modalities. Although heterozygous carriers of nonsense mutations in the HSN2 gene, called with-no-lysine(K)-1 (WNK1), do not develop the disease, historical and experimental evidence suggests that these individuals might perceive somatosensory stimuli differently from others. Using the method-of-limits, we assessed the thresholds for warmth detection, cool detection, heat pain and cold pain in 25 mutation carriers and 35 controls. In group analyses, carriers displayed significantly lower warmth (p<0.001) and cool (p<0.05) difference thresholds, and also tended to report cold pain at higher temperatures (p=0.095), than controls. Similarly, matched-pair analyses showed that carriers are significantly more sensitive to warm stimuli (p<0.01) and cold pain stimuli (p<0.05), and tend to be more sensitive to cool stimuli (p=0.11). Furthermore, the differences between the warmth detection thresholds of the carriers and those of gender- and sex-matched wild types significantly increased with age (r=0.76, p=0.02), and in carriers cool detection thresholds did not increase with age (r=0.27, p=0.24) as expected and observed in controls (r=0.34, p=0.05). This study demonstrates that the carriers of a recessive mutation for HSAN2 display greater sensitivity to innocuous thermal stimuli, as well as for cold pain, suggesting a possible environmental adaptive advantage of the heterozygous state.

Emerging obesity and dietary habits among James Bay Cree youth.

OBJECTIVE: To describe dietary habits and extent of overweight and obesity among Cree youth. DESIGN: Dietary intake and habits were assessed by a 24 h recall and FFQ as part of a cross-sectional survey. SETTING: Three Cree communities in northern Québec, Canada. SUBJECTS: A total of 125 youth aged 9-18 years. RESULTS: Overall 67·6 % of the study population was either at risk of overweight or overweight. Over 98 % had a usual saturated fat intake over 10 % of energy while 65 % had a lower consumption of fruit/vegetables and 95 % had a lower consumption of milk and milk products than recommended by Canada's Food Guide. The majority (96·8 %) consumed high-fat foods (>40 % of total energy as fat), which accounted for 39 % of total energy intake (EI). Similarly, 92·8 % consumed high-sugar food and beverages (>25 % of total energy as sugar), which accounted for 12·8 % of total EI. Furthermore, 95 % of the youth had a Healthy Eating Index (HEI) below the recommended score of 80 or above. Certain measures of diet quality (traditional food (TF) consumption, HEI and vegetables and fruit consumption) were significantly correlated with adiposity measures. CONCLUSIONS: A high prevalence of low-diet quality was found with a high degree of sugar and fat intake and a low consumption of vegetables/fruit and milk/milk alternates and any weekly TF. Dietary interventions are sorely needed.

One step forward, one step back: Quebec's 2003­04 health and social services regionalization policy.

This article focuses on Quebec's most recent reform in the regionalization of health care to understand why the government chose to transform the regional boards into agencies. This case study used interviews and documentary analysis. Rooted in a political science perspective, the conceptual framework is inspired by the work of John Kingdon (1995) and draws on the four variables that influence the choice of policy: ideas, interests, institutions and events. Results of the case study suggest that Quebec's Commission of Study for Health and Social Services (the Clair Commission) in 2000 and the 2002 pre-electoral environment put the issue on the agenda. In 2003, the newly elected Liberal government passed Bill 25 ­ An Act Respecting Local Health and Social Services Network Development Agencies, which represented a political compromise: originally slated for eradication, the regional tier survived but in a new form. The element that sparked reform was the change in government following the elections. Different inquiry reports spread the reform's ideas, while interest groups articulated contrasting visions on the transformation. Above all, regional institutions showed great resilience in the face of change. From a historical perspective, this regionalization policy is a step backward: the regional tier is now stronger from a managerial and technocratic point of view, but it is politically and democratically weakened. This suggests a government intention, at that time, to maintain the regional level as a means of retaining centralized control over Quebec's health-care system.

Reliability of the Language Environment Analysis Recording System in Analyzing French-English Bilingual Speech.

Purpose This study examined the utility of the Language ENvironment Analysis (LENA) recording system for investigating the language input to bilingual infants. Method Twenty-one French-English bilingual families with a 10-month-old infant participated in this study. Using the LENA recording system, each family contributed 3 full days of recordings within a 1-month period. A portion of these recordings (945 minutes) were manually transcribed, and the word counts from these transcriptions were compared against the LENA-generated adult word counts. Results Data analyses reveal that the LENA algorithms were reliable in counting words in both Canadian English and Canadian French, even when both languages are present in the same recording. While the LENA system tended to underestimate the amount of speech in the recordings, there was a strong correlation between the LENA-generated and human-transcribed adult word counts for each language. Importantly, this relationship holds when accounting for different-gendered and different-accented speech. Conclusions The LENA recording system is a reliable tool for estimating word counts, even for bilingual input. Special considerations and limitations for using the LENA recording system in a bilingual population are discussed. These results open up possibilities for investigating caregiver talk to bilingual infants in more detail.

Second-generation Western Muslims: A qualitative analysis of multiple social identities.

The relationships between social identities are important when discussing the national and religious identities of Muslims in Western contexts. This study explored the identity narratives of second-generation Muslim young adults to consider the relevance of bicultural identity and acculturation theories commonly employed in research with this group. The sample comprised 20 Muslim young adults of diverse ethnicities and backgrounds from Montreal, Berlin, and Copenhagen who participated in semi-structured interviews that explored how they negotiate their social identities in light of their unique life course trajectories. This article focuses on two major themes underlying second-generation identity development: the importance of personal experience in the development of social identities; and the enmeshment of multiple social identities. We then discuss the results of our findings in light of the complex nature of social identity, group membership, and political categorization.

Reported immigration and medical coercion among immigrants referred to a cultural consultation service.

Members of visible minorities are commonly targets of social coercion related to immigration and medical measures. Social coercion is associated with poor mental health outcomes and mistrust of medical services. This study will determine if Afro-Canadian immigrants referred to a Cultural Consultation Service (CCS) in Montreal report more or less medical and immigration coercion compared with other ethnic minorities. We reviewed the charts of 729 referrals to the CCS and gathered data on the 401 patients included in the study. Chi-square statistics examined the relation between minority group and self-reported coercion. Binary logistic regression models controlled for standard sociodemographic variables in addition to ethnicity, language barrier, length of stay in Canada since immigration, refugee claimant status, referral source, presence of psychosis in the main diagnosis, and presence of legal history. Patients were diverse and included 105 Afro-Canadians, 40 Latin Americans, 73 Arab and West Asians, 149 South Asians, and 34 East and Southeast Asians. Being Afro-Canadian was significantly and positively associated with medical coercion (p = .02, 95% CI = 1.15-4.57), while being South Asian was negatively and significantly associated with immigration coercion (p = .03, 95% CI = .29-.93). Members of visible minority communities are not equal in their reported experience of social coercion after arriving to Canada. Future research clarifying pathways to mental health care for immigrants and the experience of new Canadians in immigration and health care settings would give needed context to the findings of this study.

Impact of the Charter of Quebec Values on psychological well-being of francophone university students.

This paper discusses results from a pilot study conducted in the spring of 2014 among young adults living in Montreal. The main objective of this study was to assess the relation between perception of the Charter of Quebec Values, 1 self-identification, perception of intercommunity relations, perceived discrimination, and psychological well-being in young students enrolled in undergraduate or graduate programs of a francophone university in Montreal. A total of 441 students (30.5% male, 69.5% female) took part in a web survey designed by the research team. The data analyses and results suggest that the debate around the Charter of Quebec values was associated with a shift from a predominantly positive perception of intercommunity relations to a predominantly negative one, particularly among women, immigrants, and those who self-identified as cultural or religious minorities. In addition, more than 30% of participants reported having experienced some form of ethnic or religious discrimination since the Charter was released (personally or as a witness). This was particularly the case among immigrants, as well as those who self-identified as bicultural or from cultural or religious minority groups. This study's results thus highlight the exacerbation of intercommunity tensions linked to the public debate around identity and intercommunity relations in Quebec.

K45R variant of squalene synthase increases total cholesterol levels in two study samples from a French Canadian population.

Squalene synthase is an important component of the cholesterol biosynthetic pathway, and inhibitors of this enzyme have been shown to lower plasma cholesterol levels. Previously, we sequenced the squalene synthase gene, FDFT1 (farnesyl-diphosphate farnesyltransferase), and identified several SNPs, including a nonsynonymous variant, rs11549147:A>G (K45R). To examine the possible association of K45R with plasma lipid traits, we tested 887 individuals from 149 families from the founder population of Saguenay-Lac St. Jean (SLSJ), Quebec. K45R was associated with increased total cholesterol (TC) (P=0.035) and non-high-density lipoprotein cholesterol (non-HDL-C) (P=0.01). These results were replicated in an independent sample of unrelated individuals (P=0.0008 for TC, P=0.004 for non-HDL-C). This SNP also influenced low-density lipoprotein cholesterol (P=0.042) and HDL-C (P=0.025) in the family-based sample, and triglycerides (TG) (P=0.007) in the unrelated subjects. The lysine (K) in codon 45 is conserved across 11 mammals and lies in a potential exonic splicing enhancer (ESE) site. These results suggest that this coding variant in the squalene synthase gene influences plasma cholesterol levels, possibly by affecting the intracellular production of cholesterol.

Novel SACS mutation in a Belgian family with sacsin-related ataxia.

The authors describe the four patients in the first known Belgian family with autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS). A novel homozygous missense mutation, NM_014363.3: c.3491T>A in exon 9, of the SACS gene was identified in the present family, which results in an original amino acid of methionine to lysine substitution at amino acid residue 1164 (p.M1164K). Although the cardinal clinical features, i.e., spastic ataxia with peripheral neuropathy, in our patients were similar to those in Quebec patients, our patients exhibited some atypical clinical features, e.g., teenage-onset and absence of retinal hypermyelination. The present family is from Wallonia, and there could be shared ethnicity with the families of Charlevoix-Saguenay.