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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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Adrenomyeloneuropathy: report of a new mutation in a French Canadian female.

https://arctichealth.org/en/permalink/ahliterature173849
Source
Can J Neurol Sci. 2005 May;32(2):261-3
Publication Type
Article
Date
May-2005
Author
Annie Dionne
Denis Brunet
Alexander McCampbell
Nicolas Dupré
Author Affiliation
Départment des Sciences Neurologiques, CHAUQ-Hôpital Enfant-Jésus, McGill University, QC, Canada.
Source
Can J Neurol Sci. 2005 May;32(2):261-3
Date
May-2005
Language
English
Publication Type
Article
Keywords
ATP-Binding Cassette Transporters - genetics
Adrenoleukodystrophy - genetics - metabolism - physiopathology
Amino Acid Sequence - genetics
Amino Acid Substitution - genetics
Chromosomes, Human, X - genetics
DNA Mutational Analysis
Diagnosis, Differential
Exons - genetics
Family Health
Female
Genetic Testing
Humans
Middle Aged
Mutation, Missense - genetics
Pedigree
Phenotype
Quebec - ethnology
Sex Factors
Abstract
X-linked adrenoleukodystrophy is a peroxisomial disorder caused by mutations in the ABCD1 gene. Adrenomyeloneuropathy is the second most frequent phenotype (25-46%) of this disease and classically presents in adulthood with spastic paraparesis. Female heterozygotes can be symptomatic, but they are frequently misdiagnosed as having multiple sclerosis.
We report a novel missense mutation in the ABCD1 gene in a 47-year-old French-Canadian female with spastic paraparesis and no confirmed family history of X-linked adrenoleukodystrophy. The mutation is located on exon 1 and causes the amino acid substitution of a valine for an alanine in a region of the protein highly conserved between mouse and man.
Adrenomyeloneuropathy must be considered in the differential diagnosis of spastic paraparesis in men or women. This is an initial report of an ABCD1 gene mutation in the French-Canadian population, which should lead to the recognition of other cases in the future.
PubMed ID
16018167 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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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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Clinical, electrophysiologic, and genetic study of non-dystrophic myotonia in French-Canadians.

https://arctichealth.org/en/permalink/ahliterature158301
Source
Neuromuscul Disord. 2009 May;19(5):330-4
Publication Type
Article
Date
May-2009
Author
Nicolas Dupré
Nicolas Chrestian
Jean-Pierre Bouchard
Elsa Rossignol
Denis Brunet
Damien Sternberg
Bernard Brais
Jean Mathieu
Jack Puymirat
Author Affiliation
Department of Neurological Sciences, CHAUQ (Enfant-Jésus), Faculty of Medicine, Laval University, Quebec City, QC, Canada. nicdupre@aol.com
Source
Neuromuscul Disord. 2009 May;19(5):330-4
Date
May-2009
Language
English
Publication Type
Article
Keywords
Adult
Aged
Aged, 80 and over
Chloride Channels - genetics
Cold Temperature - adverse effects
DNA Mutational Analysis
Exercise Tolerance - genetics
Female
Genetic Markers - genetics
Genetic Predisposition to Disease - genetics
Genetic Testing
Genotype
Humans
Leg - physiopathology
Male
Middle Aged
Muscle Weakness - genetics - physiopathology
Muscle, Skeletal - metabolism - pathology - physiopathology
Mutation - genetics
Myotonia - diagnosis - genetics - physiopathology
NAV1.4 Voltage-Gated Sodium Channel
Quebec - ethnology
Sodium Channels - genetics
Tongue - physiopathology
Young Adult
Abstract
Thirty-three French-Canadian families with non-dystrophic myotonia were identified. Fifty subjects were recruited and submitted to a complete clinical, electrophysiologic and genetic evaluation. Thirteen mutations were identified in CLCN1 and five mutations were identified in SCN4A. Onset in the lower extremities, presence of tongue myotonia and transient weakness suggested recessive CLCN1 mutations. Lid myotonia, absence of hypertrophy and exacerbation with cold temperature suggested SCN4A mutations. Pain was not a feature of dominant CLCN1 mutations while it could be seen in the others, more frequently in SCN4A mutations. Warm up phenomenon, hand grip myotonia, percussion myotonia, lid lag and hormonal effects were not distinguishing features. Repetitive nerve stimulation and short exercise test showed either a large (>50%) or mild-moderate (10-50%) decrement with recessive CLCN1 mutations while they showed only mild or no decrement with dominant CLCN1 and SCN4A mutations. The French-Canadian population shows wide phenotypic and genotypic heterogeneity in non-dystrophic myotonias.
PubMed ID
18337100 View in PubMed
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CYP7B1 mutations in French-Canadian hereditary spastic paraplegia subjects.

https://arctichealth.org/en/permalink/ahliterature126511
Source
Can J Neurol Sci. 2012 Jan;39(1):91-4
Publication Type
Article
Date
Jan-2012
Author
Anne Noreau
Patrick A Dion
Anna Szuto
Annie Levert
Pascale Thibodeau
Bernard Brais
Nicolas Dupré
Marie-France Rioux
Guy A Rouleau
Author Affiliation
Center of Excellence in Neuroscience of Université de Montréal, Centre de Recherche du Centre Hospitalier de l'Université de Montréal, Quebec, Canada.
Source
Can J Neurol Sci. 2012 Jan;39(1):91-4
Date
Jan-2012
Language
English
Publication Type
Article
Keywords
Age of Onset
Canada - ethnology
DNA Mutational Analysis
Family Health
Female
Gene Frequency
Genotype
Humans
Male
Mutation - genetics
Spastic Paraplegia, Hereditary - genetics
Steroid Hydroxylases - genetics
PubMed ID
22384504 View in PubMed
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Exome sequencing identifies FUS mutations as a cause of essential tremor.

https://arctichealth.org/en/permalink/ahliterature121947
Source
Am J Hum Genet. 2012 Aug 10;91(2):313-9
Publication Type
Article
Date
Aug-10-2012
Author
Nancy D Merner
Simon L Girard
Hélène Catoire
Cynthia V Bourassa
Véronique V Belzil
Jean-Baptiste Rivière
Pascale Hince
Annie Levert
Alexandre Dionne-Laporte
Dan Spiegelman
Anne Noreau
Sabrina Diab
Anna Szuto
Hélène Fournier
John Raelson
Majid Belouchi
Michel Panisset
Patrick Cossette
Nicolas Dupré
Geneviève Bernard
Sylvain Chouinard
Patrick A Dion
Guy A Rouleau
Author Affiliation
Centre of Excellence in Neurosciences, Centre Hospitalier de l'Université de Montréal Research Center, Université de Montréal, Montréal, QC H2L 2W5, Canada.
Source
Am J Hum Genet. 2012 Aug 10;91(2):313-9
Date
Aug-10-2012
Language
English
Publication Type
Article
Keywords
Base Sequence
Essential Tremor - genetics
Exome - genetics
Genetic Predisposition to Disease - genetics
Humans
Molecular Sequence Data
Point Mutation - genetics
Quebec
RNA-Binding Protein FUS - genetics
Sequence Analysis, DNA
Abstract
Essential tremor (ET) is a common neurodegenerative disorder that is characterized by a postural or motion tremor. Despite a strong genetic basis, a gene with rare pathogenic mutations that cause ET has not yet been reported. We used exome sequencing to implement a simple approach to control for misdiagnosis of ET, as well as phenocopies involving sporadic and senile ET cases. We studied a large ET-affected family and identified a FUS p.Gln290(*) mutation as the cause of ET in this family. Further screening of 270 ET cases identified two additional rare missense FUS variants. Functional considerations suggest that the pathogenic effects of ET-specific FUS mutations are different from the effects observed when FUS is mutated in amyotrophic lateral sclerosis cases; we have shown that the ET FUS nonsense mutation is degraded by the nonsense-mediated-decay pathway, whereas amyotrophic lateral sclerosis FUS mutant transcripts are not.
Notes
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PubMed ID
22863194 View in PubMed
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Founder SH3TC2 mutations are responsible for a CMT4C French-Canadians cluster.

https://arctichealth.org/en/permalink/ahliterature156968
Source
Neuromuscul Disord. 2008 Jun;18(6):483-92
Publication Type
Article
Date
Jun-2008
Author
Isabelle Gosselin
Isabelle Thiffault
Martine Tétreault
Vann Chau
Marie-Josée Dicaire
Lina Loisel
Monique Emond
Jan Senderek
Jean Mathieu
Nicolas Dupré
Michel Vanasse
Jack Puymirat
Bernard Brais
Author Affiliation
Laboratoire de neurogénétique de la motricité, Centre d'Excellence en Neuromique de l'Université de Montréal, Centre de Recherche du Centre Hospitalier de l'Université de Montréal, Hôpital Notre-Dame-CHUM, Montréal, Que., Canada.
Source
Neuromuscul Disord. 2008 Jun;18(6):483-92
Date
Jun-2008
Language
English
Publication Type
Article
Keywords
Adolescent
Adult
Aged
Aged, 80 and over
Canada - epidemiology - ethnology
Charcot-Marie-Tooth Disease - epidemiology - genetics - pathology
Child
Chromosomes, Human, Pair 5
Cluster analysis
European Continental Ancestry Group
Family Health
Female
Genetic Predisposition to Disease
Humans
Male
Middle Aged
Mutation - genetics
Proteins - genetics
Abstract
Charcot-Marie-Tooth polyneuropathies (CMT) are clinically and genetically heterogeneous. We describe a French-Canadian cluster of 17 recessive CMT cases belonging to 10 families with variable early-onset CMT and scoliosis. The patients demonstrate great intra- and inter-familial variability. Linkage analysis confirmed that all families are linked to CMT4C locus on chromosome 5q32 (multipoint LOD score of 9.06). Haplotype analysis suggests that two SH3TC2 mutations are present in this cohort. The majority of carrier chromosomes, 26 of 34 (76%), carry the c.2860C-->T mutation. Despite extensive sequencing, the other mutation is not yet uncovered. This study demonstrates that the clinical variability observed in CMT4C is due to other factors than the nature of the mutation and that further work is needed to better define the SH3TC2 gene to ensure the identification of all CMT4C mutations.
PubMed ID
18511281 View in PubMed
Less detail

Glucocerebrosidase mutations in a French-Canadian Parkinson's disease cohort.

https://arctichealth.org/en/permalink/ahliterature131975
Source
Can J Neurol Sci. 2011 Sep;38(5):772-3
Publication Type
Article
Date
Sep-2011

23 records – page 1 of 3.