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A functional myeloperoxidase polymorphic variant is associated with coronary artery disease in French-Canadians.
- B. Nikpoor, G. Turecki, C. Fournier, P. Théroux, G. Rouleau
- Biology, MedicineAmerican heart journal
- 1 August 2001
The findings suggest that the -463 G/A polymorphism of the MPO gene influences the risk of CAD, and this effect may be mediated by the effect of this polymorphism on the transcription level of theMPO gene.
Identification of a major susceptibility locus for restless legs syndrome on chromosome 12q.
- A. Desautels, G. Turecki, J. Montplaisir, A. Sequeira, A. Verner, G. Rouleau
- BiologyAmerican journal of human genetics
- 1 December 2001
These findings represent the first mapping of a locus conferring susceptibility to RLS, and positioning the RLS-predisposing gene in a 14.71-cM region between D 12S1044 and D12S78 is refined.
Hereditary Spastic Paraplegia
Clinical, genetic, and pathologic features of HSP are reviewed and differential diagnosis and diagnostic criteria of this important group of disorders are presented and polymorphic microsatellite markers useful for genetic linkage analysis and genetic counseling are discussed.
Mutations in FUS cause FALS and SALS in French and French Canadian populations
This study identified sporadic patients with mutations in the FUS gene, and the accumulation and description of different genes and mutations helps to develop a more comprehensive picture of the genetic events underlying amyotrophic lateral sclerosis.
Genetic mapping of a new Lafora progressive myoclonus epilepsy locus (EPM2B) on 6p22
A second Lafora disease locus is mapped to a 2.2 Mb region at 6p22, a region known to code for several proteins, including kinesins, which play a major role in axonal and dendritic transport in neurones.
The first nonsense mutation in alsin results in a homogeneous phenotype of infantile‐onset ascending spastic paralysis with bulbar involvement in two siblings
A ninth ALS2 mutation is described, in two siblings affected by infantile‐onset ascending spastic paraplegia with bulbar involvement, which is predicted to result in the substitution of an amino acid by a stop codon, and thus is the first nonsense mutation detected in this gene.
Genetics of familial ALS and consequences for diagnosis 1
Evidence for a genetic association between monoamine oxidase A and restless legs syndrome
The high activity allele of the MAOA gene may represent a modifying factor involved in the severity of RLS manifestations in females, and is investigated using a population-based association study.
Recurrent mutations in DNAJC5 cause autosomal dominant Kufs disease
DNAJC5, which encodes the cysteine string protein (CSPα), a presynaptic protein implicated in neurodegeneration, causes autosomal dominant Kufs disease, and the leucine residues at positions 115 and 116 are hotspots for mutations and result in a homogeneous phenotype of progressive myoclonus epilepsy with onset around 30 years old.
Dopaminergic neurotransmission and restless legs syndrome: A genetic association analysis
No effect of the loci examined was observed with stratification using clinical parameters such as age at onset or periodic leg movements during sleep index, and no significant differences were found in the genotypic or allelic distributions between groups.