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The 14q restless legs syndrome locus in the French Canadian population.

https://arctichealth.org/en/permalink/ahliterature179886
Source
Ann Neurol. 2004 Jun;55(6):887-91
Publication Type
Article
Date
Jun-2004
Author
Anastasia Levchenko
Jacques-Yves Montplaisir
Marie-Pierre Dubé
Jean-Baptiste Riviere
Judith St-Onge
Gustavo Turecki
Lan Xiong
Pascale Thibodeau
Alex Desautels
Dominique J Verlaan
Guy A Rouleau
Author Affiliation
Centre for Research in Neuroscience, McGill University Health Centre Research Institute, Montreal General Hospital, Quebec, Canada.
Source
Ann Neurol. 2004 Jun;55(6):887-91
Date
Jun-2004
Language
English
Publication Type
Article
Keywords
Canada
Chromosome Mapping
Chromosomes, Human, Pair 14 - genetics
Family Health
Female
France - ethnology
Genes, Dominant
Genes, Recessive
Genetic Linkage
Genetic Predisposition to Disease
Genotype
Humans
Lod Score
Male
Pedigree
Restless Legs Syndrome - genetics
Abstract
A new restless legs syndrome locus on chromosome 14 recently has been reported in one family of Italian origin. Our study aimed to replicate this finding and determine the importance of this locus in the French Canadian population. Markers spanning the region were genotyped in 14 large families and linkage assessed using two-point and multipoint logarithm of odds scores. Possible linkage to this locus was found in one of our kindreds providing support for the existence of this locus and indicating that this locus may be responsible for a small fraction of French Canadian restless legs syndrome.
PubMed ID
15174026 View in PubMed
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50bp deletion in the promoter for superoxide dismutase 1 (SOD1) reduces SOD1 expression in vitro and may correlate with increased age of onset of sporadic amyotrophic lateral sclerosis.

https://arctichealth.org/en/permalink/ahliterature156293
Source
Amyotroph Lateral Scler. 2008 Aug;9(4):229-37
Publication Type
Article
Date
Aug-2008
Author
Wendy J Broom
Matthew Greenway
Ghazaleh Sadri-Vakili
Carsten Russ
Kristen E Auwarter
Kelly E Glajch
Nicolas Dupre
Robert J Swingler
Shaun Purcell
Caroline Hayward
Peter C Sapp
Diane McKenna-Yasek
Paul N Valdmanis
Jean-Pierre Bouchard
Vincent Meininger
Betsy A Hosler
Jonathan D Glass
Meraida Polack
Guy A Rouleau
Jang-Ho J Cha
Orla Hardiman
Robert H Brown
Author Affiliation
Day Neuromuscular Research Laboratory, Massachusetts General Hospital, Charlestown, Massachusetts 02129, USA. wendy.broom@gmail.com
Source
Amyotroph Lateral Scler. 2008 Aug;9(4):229-37
Date
Aug-2008
Language
English
Publication Type
Article
Keywords
Age of Onset
Amyotrophic Lateral Sclerosis - enzymology - epidemiology - genetics
Base Sequence
DNA Mutational Analysis
Female
Gene Expression
Genetic Predisposition to Disease
Genotype
Homozygote
Humans
Ireland - epidemiology
Male
Middle Aged
Phenotype
Polymorphism, Genetic
Promoter Regions, Genetic
Quebec - epidemiology
Risk factors
Scotland - epidemiology
Sequence Deletion
Sp1 Transcription Factor - metabolism
Superoxide Dismutase - genetics - metabolism
United States - epidemiology
Abstract
The objective was to test the hypothesis that a described association between homozygosity for a 50bp deletion in the SOD1 promoter 1684bp upstream of the SOD1 ATG and an increased age of onset in SALS can be replicated in additional SALS and control sample sets from other populations. Our second objective was to examine whether this deletion attenuates expression of the SOD1 gene. Genomic DNA from more than 1200 SALS cases from Ireland, Scotland, Quebec and the USA was genotyped for the 50bp SOD1 promoter deletion. Reporter gene expression analysis, electrophoretic mobility shift assays and chromatin immunoprecipitation studies were utilized to examine the functional effects of the deletion. The genetic association for homozygosity for the promoter deletion with an increased age of symptom onset was confirmed overall in this further study (p=0.032), although it was only statistically significant in the Irish subset, and remained highly significant in the combined set of all cohorts (p=0.001). Functional studies demonstrated that this polymorphism reduces the activity of the SOD1 promoter by approximately 50%. In addition we revealed that the transcription factor SP1 binds within the 50bp deletion region in vitro and in vivo. Our findings suggest the hypothesis that this deletion reduces expression of the SOD1 gene and that levels of the SOD1 protein may modify the phenotype of SALS within selected populations.
PubMed ID
18608091 View in PubMed
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Analysis of DPP6 and FGGY as candidate genes for amyotrophic lateral sclerosis.

https://arctichealth.org/en/permalink/ahliterature146774
Source
Amyotroph Lateral Scler. 2010 Aug;11(4):389-91
Publication Type
Article
Date
Aug-2010
Author
Hussein Daoud
Paul N Valdmanis
Patrick A Dion
Guy A Rouleau
Author Affiliation
Centre of Excellence in Neuromics, Université de Montréal, Montreal, Quebec, Canada.
Source
Amyotroph Lateral Scler. 2010 Aug;11(4):389-91
Date
Aug-2010
Language
English
Publication Type
Article
Keywords
Amyotrophic Lateral Sclerosis - genetics
Canada
Cohort Studies
DNA Mutational Analysis
Dipeptidyl-Peptidases and Tripeptidyl-Peptidases - genetics
European Continental Ancestry Group
Gene Frequency
Genotype
Humans
Nerve Tissue Proteins - genetics
Polymorphism, Single Nucleotide - genetics
Potassium Channels - genetics
Proteins - genetics
Abstract
DPP6 and FGGY genes have been recently associated with an increased susceptibility for sporadic amyotrophic lateral sclerosis. Here, we evaluated the role of these genes in ALS pathogenesis by undertaking a sequence analysis of a cohort of 190 ALS patients from France and Quebec. We did not observe any evidence that mutations in DPP6 and FGGY genes are involved in ALS. Our data indicate that mutations in these genes are unlikely to be a common cause of ALS in the French and French Canadian populations.
PubMed ID
20001489 View in PubMed
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Analysis of the SORT1 gene in familial amyotrophic lateral sclerosis.

https://arctichealth.org/en/permalink/ahliterature126744
Source
Neurobiol Aging. 2012 Aug;33(8):1845.e7-9
Publication Type
Article
Date
Aug-2012
Author
Véronique V Belzil
Catherine André-Guimont
Marie-Renée Atallah
Hussein Daoud
Nicolas Dupré
Jean-Pierre Bouchard
William Camu
Patrick A Dion
Guy A Rouleau
Author Affiliation
Centre of Excellence in Neurosciences of Université de Montréal, CHUM Research Center, Montreal, QC H2L 4M1, Canada.
Source
Neurobiol Aging. 2012 Aug;33(8):1845.e7-9
Date
Aug-2012
Language
English
Publication Type
Article
Keywords
Adaptor Proteins, Vesicular Transport - genetics
Adolescent
Adult
Amyotrophic Lateral Sclerosis - congenital - epidemiology - genetics
Child
Female
Genetic Markers - genetics
Genetic Predisposition to Disease - epidemiology - genetics
Humans
Male
Mutation - genetics
Polymorphism, Single Nucleotide - genetics
Prevalence
Quebec - epidemiology
Risk factors
Young Adult
Abstract
Substantial efforts have been deployed in the past decade to identify the genetic causes of amyotrophic lateral sclerosis (ALS), and we hypothesized here that mutations in SORT1 or aberrant SORT1 splicing reduce progranulin level and promote neurodegeneration.
We sequenced the coding exons of SORT1 in a cohort of 112 unrelated individuals with familial ALS. We also tested for aberrant SORT1 splicing by RT-PCR using RNA samples from cell lines expressing six different ALS-associated TARDBP mutations.
We identified one unique missense and two unique silent mutations in our cohort. None are predicted to have functional effects. No aberrant SORT1 splicing event was observed.
SORT1 mutations are not a common cause of familial ALS, and the influence of TARDBP mutations on SORT1 splicing still needs to be clarified.
PubMed ID
22361451 View in PubMed
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Association of intronic variants of the BTBD9 gene with Tourette syndrome.

https://arctichealth.org/en/permalink/ahliterature148017
Source
Arch Neurol. 2009 Oct;66(10):1267-72
Publication Type
Article
Date
Oct-2009
Author
Jean-Baptiste Rivière
Lan Xiong
Anastasia Levchenko
Judith St-Onge
Claudia Gaspar
Yves Dion
Paul Lespérance
Geneviève Tellier
François Richer
Sylvain Chouinard
Guy A Rouleau
Author Affiliation
Sainte Justine Hospital Research Center and the Center of Excellence in Neuromics, University of Montreal, Montreal, QC H2L 4M1, Canada.
Source
Arch Neurol. 2009 Oct;66(10):1267-72
Date
Oct-2009
Language
English
Publication Type
Article
Keywords
Adult
Alleles
Attention Deficit Disorder with Hyperactivity - complications - genetics - psychology
Canada - epidemiology
Case-Control Studies
Child
Cohort Studies
Family
Female
Gene Frequency
Genetic Variation
Genome-Wide Association Study
Genotype
Humans
Introns - genetics
Male
Neuropsychological Tests
Nocturnal Myoclonus Syndrome - genetics - psychology
Obsessive-Compulsive Disorder - complications - genetics - psychology
Outcome Assessment (Health Care)
Polymorphism, Single Nucleotide
Restless Legs Syndrome - genetics - psychology
Risk assessment
Tourette Syndrome - complications - genetics - psychology
Transcription Factors - genetics
Abstract
To test the association between Tourette syndrome (TS) and genetic variants in genomic loci MEIS1, MAP2K5/LBXCOR1, and BTBD9, for which genome-wide association studies in restless legs syndrome and periodic limb movements during sleep revealed common risk variants.
Case-control association study.
Movement disorder clinic in Montreal. Subjects We typed 14 single-nucleotide polymorphisms spanning the 3 genomic loci in 298 TS trios, 322 TS cases (including 298 probands from the cohort of TS trios), and 290 control subjects.
Clinical diagnosis of TS, obsessive-compulsive disorder, and attention-deficit disorder.
The study provided 3 single-nucleotide polymorphisms within BTBD9 associated with TS (chi(2) = 8.02 [P = .005] for rs9357271), with the risk alleles for restless legs syndrome and periodic limb movements during sleep overrepresented in the TS cohort. We stratified our group of patients with TS according to presence or absence of obsessive-compulsive disorder and/or attention-deficit disorder and found that variants in BTBD9 were strongly associated with TS without obsessive-compulsive disorder (chi(2) = 12.95 [P
PubMed ID
19822783 View in PubMed
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Autosomal-dominant locus for Restless Legs Syndrome in French-Canadians on chromosome 16p12.1.

https://arctichealth.org/en/permalink/ahliterature154583
Source
Mov Disord. 2009 Jan 15;24(1):40-50
Publication Type
Article
Date
Jan-15-2009
Author
Anastasia Levchenko
Jacques-Yves Montplaisir
Géraldine Asselin
Sylvie Provost
Simon L Girard
Lan Xiong
Emmanuelle Lemyre
Judith St-Onge
Pascale Thibodeau
Alex Desautels
Gustavo Turecki
Claudia Gaspar
Marie-Pierre Dubé
Guy A Rouleau
Author Affiliation
Center of Excellence in Neuromics, CHUM Research Center-Notre Dame Hospital, Quebec, Canada.
Source
Mov Disord. 2009 Jan 15;24(1):40-50
Date
Jan-15-2009
Language
English
Publication Type
Article
Keywords
Adolescent
Adult
Aged
Aged, 80 and over
Chromosomes, Human, Pair 16 - genetics
Female
France - ethnology
Genes, Dominant
Genetic Heterogeneity
Genotype
Haplotypes
Humans
Lod Score
Male
Microsatellite Repeats
Middle Aged
Paresthesia - genetics
Pedigree
Pregnancy
Pregnancy Complications - genetics
Quebec - epidemiology
Restless Legs Syndrome - ethnology - genetics
Young Adult
Abstract
We describe an autosomal-dominant locus for Restless Legs Syndrome (RLS) in a French-Canadian (FC) pedigree. Genome-wide microsatellite scan and linkage analysis were used in this study. The locus maps to chromosome 16p12.1 and spans 1.18 Mega bases. The maximum multipoint LOD scores are of 3.5 over the total of 10 markers. Evidence for the same locus was also found in a smaller FC pedigree sime095. The analysis of the sequence of 8 annotated genes within the region did not reveal any pathogenic mutations. Copy number variation and karyotype analyses did not reveal any chromosomal abnormality in the region. Further analyses of the region are necessary to find the genetic cause of RLS in this family.
PubMed ID
18946881 View in PubMed
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Characterization of a novel SPG3A deletion in a French-Canadian family.

https://arctichealth.org/en/permalink/ahliterature164200
Source
Ann Neurol. 2007 Jun;61(6):599-603
Publication Type
Article
Date
Jun-2007
Author
Inge A Meijer
Patrick Dion
Sandra Laurent
Nicolas Dupré
Bernard Brais
Annie Levert
Jacques Puymirat
Marie France Rioux
Michel Sylvain
Peng-Peng Zhu
Cynthia Soderblom
Julia Stadler
Craig Blackstone
Guy A Rouleau
Author Affiliation
Center for the Study of Brain Diseases, Centre Hospitalier de l'Université de Montréal Research Center-Notre-Dame Hospital, University of Montreal, Québec, Canada.
Source
Ann Neurol. 2007 Jun;61(6):599-603
Date
Jun-2007
Language
English
Publication Type
Article
Keywords
Adolescent
Adult
Child, Preschool
DNA Mutational Analysis
Electrodiagnosis
Family
GTP Phosphohydrolases - analysis - genetics
GTP-Binding Proteins
Humans
Lymphocytes - chemistry
Membrane Proteins
Middle Aged
Paraplegia - diagnosis - genetics
Quebec
RNA, Messenger - analysis
Sequence Deletion - genetics
Two-Hybrid System Techniques
Abstract
Hereditary spastic paraplegias (HSPs) are characterized by progressive lower limb spasticity and weakness. Mutations in the SPG3A gene, which encodes the large guanosine triphosphatase atlastin, are the second most common cause of autosomal dominant hereditary spastic paraplegia. In a large SPG3A screen of 70 hereditary spastic paraplegia subjects, a novel in-frame deletion, p.del436N, was identified. Characterization of this deletion showed that it affects neither the guanosine triphosphatase activity of atlastin nor interactions between atlastin and spastin. Interestingly, immunoblot analysis of lymphoblasts from affected patients demonstrated a significant reduction in atlastin protein levels, supporting a loss-of-function disease mechanism.
PubMed ID
17427918 View in PubMed
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Chromogranin B P413L variant as risk factor and modifier of disease onset for amyotrophic lateral sclerosis.

https://arctichealth.org/en/permalink/ahliterature146720
Source
Proc Natl Acad Sci U S A. 2009 Dec 22;106(51):21777-82
Publication Type
Article
Date
Dec-22-2009
Author
Francois Gros-Louis
Peter M Andersen
Nicolas Dupre
Makoto Urushitani
Patrick Dion
Frederique Souchon
Monique D'Amour
William Camu
Vincent Meininger
Jean-Pierre Bouchard
Guy A Rouleau
Jean-Pierre Julien
Author Affiliation
Centre de Recherche du Centre Hospitalier Universitaire de Québec, Département de psychiatrie et neurosciences, Université Laval, Ste-Foy, QC, Canada G1V 4G2.
Source
Proc Natl Acad Sci U S A. 2009 Dec 22;106(51):21777-82
Date
Dec-22-2009
Language
English
Publication Type
Article
Keywords
Adult
Age of Onset
Amyotrophic Lateral Sclerosis - genetics
Chromogranin B - genetics
Exons
Female
France
Humans
Introns
Male
Middle Aged
Mutation
Quebec
Risk factors
Abstract
Recently, chromogranins were reported to interact specifically with mutant forms of superoxide dismutase that are linked to amyotrophic lateral sclerosis (ALS). This interaction led us to analyze the frequencies of sequence variants of the CHGB gene in ALS patients and matched controls from three different countries. Of particular interest was the finding of the P413L CHGB variant present in 10% of ALS patients (n = 705) as compared to 4.5% in controls (n = 751), conferring a 2.2-fold greater relative risk to develop the disease (P
Notes
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PubMed ID
20007371 View in PubMed
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48 records – page 1 of 5.