H Bourteel

Centre Hospitalier de Valenciennes, Valenciennes, Nord-Pas-de-Calais, France

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Publications (6)14.1 Total impact

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    ABSTRACT: Limb-girdle muscular dystrophy 2I (LGMD2I) is caused by mutations in the fukutin-related protein gene FKRP, which is also involved in congenital muscular dystrophy (MDC1C). To evaluate the clinical, biological, radiological and mutational characteristics of LGMD2I patients with FKRP mutation. Eleven patients from nine families from the north of France were studied. Demographical data, muscular testing results, cardiac and respiratory examinations, muscle histological features and a genetic analysis of the FKRP gene for each patient are reported. Eight patients underwent brain MRI and seven neuropsychological tests. The patients included six women and five men. The mean age at onset was 9 years (range 1.5 to 23 years). Five patients remained self-ambulatory, whereas the other six were confined to a wheelchair by a mean age of 19 years, after a mean disease duration of 10 years. Nine patients suffered from restrictive respiratory insufficiency, and two male patients had severe dilated cardiomyopathy. Neuropsychological tests revealed memory impairment in four cases. Brain MRI revealed cerebral abnormalities in four patients (4/8). Ten patients were carriers of the common L276I mutation, which was either homozygous (four patients) or heteroallelic with another mutation (six patients). Among the mutations found, three were novel: L322V, L489R and R275G. This study reveals inter- and intrafamilial phenotypic variability in LGMD2I, with a preponderance of myocardiopathy and restrictive respiratory insufficiency. It also demonstrates central nervous involvement, probably associated with changes in alpha-dystroglycan expression in the brain.
    Journal of neurology, neurosurgery, and psychiatry 12/2009; 80(12):1405-8. · 4.87 Impact Factor
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    ABSTRACT: Limb-girdle muscular dystrophy type 2I (LGMD2I) is caused by mutations in the fukutin related protein gene (FKRP gene). This study tries to evaluate clinical, biological and mutational characteristics of LGMD2I. Eleven patients belonging to 9 families from the North of France were selected. We reported demographic data, and results of muscular testing, cardiac, and respiratory examination, as well as the histopathological features of muscle tissue and a genetic analysis of FKRP gene for each patient. There were 6 females and 5 males. Mean age at onset was 9.7 years old. Six had Duchenne like phenotype, 5 Becker like phenotype. Nine patients suffered from restrictive respiratory failure, two males had severe dilated cardiomyopathy. Ten patients had the common L276I mutation. Three mutations had not been previously identified: L322V, L489R and R275G heterozygous mutations associated with the L276I mutation. This study underlines inter and intra familial phenotypic variability in LGMD2I, preponderance of cardiomyopathy in males and restrictive respiratory insufficiency in female.
    Revue Neurologique 03/2007; 163(2):189-96. · 0.51 Impact Factor
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    ABSTRACT: To determine the safety of a combination of mycophenolate mofetil (Cellcept, MMF) and IFNbeta-1a (Avonex) in relapsing-remitting multiple sclerosis (RRMS) and to evaluate the effects of the combination on clinical and magnetic resonance imaging (MRI) measures of disease activity. Secondary objectives were clinical and MRI data. An open-label, single-centre study including 30 RRMS patients was performed. Inclusion criteria were patients expanded disability status scale (EDSS) score <6.0, treated by Avonex for at least 6 months, with at least two relapses during the previous 2 years and at least one during the previous 6 months. MMF at a progressive dose of 2 g per day orally was added to Avonex for a duration of 6 months. MRI data were obtained at baseline and at the end of the study. The pre-study annual relapse rate was 2.0 +/- 0.7 and the EDSS score at baseline was 2.9 +/- 1.3. Eleven patients had gadolinium (Gd)-enhanced lesions at baseline for a total number of 35 lesions. Two patients interrupted the combination, one after the first dose for personal reasons unrelated to the study and the other due to diarrhoea. A few of the patients also reported nausea and abdominal pains. Adverse events included benign infectious diseases, insomnia and dizziness. No significant biological abnormalities were noted. The annualized relapse rate was 0.57 +/- 0.3 at the end of the study (P < 0.001). The mean EDSS score was 2.6 +/- 1.5 and no Gd-enhanced lesions were detected on MRI at the end of the study. MMF and IFNbeta-1a (Avonex) combined therapy is safe and very well-tolerated. Clinical and MRI data suggest that this combination may be beneficial.
    European Journal of Neurology 02/2007; 14(1):85-9. · 4.16 Impact Factor
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    ABSTRACT: IntroductionLimb-girdle muscular dystrophy type 2I (LGMD2I) is caused by mutations in the fukutin related protein gene (FKRP gene). This study tries to evaluate clinical, biological and mutational characteristics of LGMD2I.Patients and methods Eleven patients belonging to 9 families from the North of France were selected. We reported demographic data, and results of muscular testing, cardiac, and respiratory examination, as well as the histopathological features of muscle tissue and a genetic analysis of FKRP gene for each patient.Results There were 6 females and 5 males. Mean age at onset was 9.7 years old. Six had Duchenne like phenotype, 5 Becker like phenotype. Nine patients suffered from restrictive respiratory failure, two males had severe dilated cardiomyopathy. Ten patients had the common L276I mutation. Three mutations had not been previously identified: L322V, L489R and R275G heterozygous mutations associated with the L276I mutation.Conclusion This study underlines inter and intra familial phenotypic variability in LGMD2I, preponderance of cardiomyopathy in males and restrictive respiratory insufficiency in female.
    Revue Neurologique. 01/2007;
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    ABSTRACT: Benign hereditary chorea is a rare autosomal dominant disorder presenting with a childhood-onset and slowly progressive chorea. The objective of this study was to describe the clinical and genetic features of 3 patients who developed childhood-onset chorea. Three affected patients from three generations of a family with benign hereditary chorea associated with a multisystemic disorder of the basal ganglia, thyroid, lungs, salivary glands, bowels, and teeth. The TITF-1 gene was screened by microsatellite analysis, gene sequencing, and fluorescence in situ hybridization. Genetic analysis revealed a novel 0.9-Mb deletion on chromosome 14, which includes the TITF-1 and PAX9 genes. We have identified a novel deletion responsible for a new syndrome of benign hereditary chorea, including symptoms of brain-thyroid-lung syndrome associated with bowels, salivary glands, and teeth disorders. Associated signs, sometimes of slight expression, remain of high interest for the clinical and genetic diagnosis of benign hereditary chorea.
    Movement Disorders 01/2007; 21(12):2237-40. · 4.56 Impact Factor
  • Revue Neurologique - REV NEUROL. 01/2005; 161(1):36-37.