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ABSTRACT: We present phenotypic and genotypic data for an additional family with autosomal dominant sensory ataxia, a disease characterized by gait difficulties associated with diminished sensation in the limbs and areflexia. The same disease haplotype spanning the entire SNAX1 locus is observed in affected members of this second family, enabling the locus to be reduced to a 7.3-cM interval.
Neurology 01/2007; 67(12):2239-42. · 8.31 Impact Factor
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A Levchenko,
S Provost,
J Y Montplaisir,
L Xiong, J St-Onge,
P Thibodeau,
J B Rivière,
A Desautels,
G Turecki,
M P Dubé,
G A Rouleau
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ABSTRACT: The authors investigated genetic factors contributing to restless legs syndrome (RLS) by performing a 10-cM genome-wide scan in a large French-Canadian pedigree. They detected an autosomal-dominant locus mapping to chromosome 20p13, with a maximum multipoint lod score of 3.86 at marker D20S849. This is the third reported autosomal-dominant locus for RLS and the first autosomal-dominant RLS locus in the French-Canadian population.
Neurology 10/2006; 67(5):900-1. · 8.31 Impact Factor
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ABSTRACT: Intracranial aneurysms (IA) are dilatations of intracranial arteries that occur most commonly at arterial bifurcations. Unruptured IA are present in approximately 1-2% of the population aged over 30 years of age. Aneurysms are only rarely symptomatic unless they rupture, which typically results in a subarachnoid haemorrhage associated with high morbidity and mortality.
A large French Canadian (FC) family (Aneu60) was identified which contained 12 affected individuals with intracranial aneurysms. Nine of the affected patients and three unaffected individuals were sent for an 8 cM genome-wide scan. Multipoint and two-point methods were used to analyse the scan data by using a dominant parametric model.
We identified an IA susceptibility locus (ANIB4) located on chromosome 5p15.2-14.3. The locus was found by genome-wide linkage analysis and follow up analyses provided a maximum multipoint LOD score of 3.57 over the region. An identical haplotype segment of 7.2 Mb was found in a second FC pedigree and contributes to the refinement of the candidate gene interval.
Our results indicate that there is a major gene locus on chromosome 5p.
Journal of Medical Genetics 07/2006; 43(6):e31. · 6.36 Impact Factor
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J Gauthier,
R Joober,
M-P Dubé, J St-Onge,
A Bonnel,
D Gariépy,
S Laurent,
R Najafee,
H Lacasse,
L St-Charles,
E Fombonne,
L Mottron,
G A Rouleau
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ABSTRACT: It is now well established that genetic factors play an important role in the pathogenesis of autism disorder and converging lines of evidence suggest the implication of the X chromosome. Using a sample of subjects diagnosed with autism spectrum disorders, exclusively composed of males from French-Canadian (FC) origin, we tested markers covering the entire X chromosome using a family-based association study. Our initial analysis revealed the presence of association at two loci: DXS6789 (P=0.026) and DXS8043 (P=0.0101). In a second step, we added support to the association at DXS8043 using additional markers, additional subjects and a haplotype-based analysis (best obtained P-value=0.00001). These results provide support for the existence of a locus on the X chromosome that predisposes the FC to autism spectrum disorders.
Molecular Psychiatry 03/2006; 11(2):206-13. · 13.67 Impact Factor
