نتائج البحث - "Antoon Vandenberghe"

1

Failure of familial Alzheimer's disease to segregate with the A4-amyloid gene in several European families

المصدر: Nature

الوصف: The gene coding for the amyloid protein, a component of neuritic plaques found in brain tissue from patients with Alzheimer's disease, has been localized to chromosome 21, and neighbouring polymorphic DNA markers segregate with Alzheimer's disease in several large families. These data, and the association of Alzheimer's disease with Down's syndrome, suggest that overproduction of the amyloid protein, or production of an abnormal variant of the protein, may be the underlying pathological change causing Alzheimer's disease. We have identified a restriction fragment length polymorphism of the A4-amyloid gene, and find recombinants in two Alzheimer's disease families between Alzheimer's disease and the A4-amyloid locus. This demonstrates that the gene for plaque core A4-amyloid cannot be the locus of a defect causing Alzheimer's disease in these families. These data indicate that alterations in the plaque core amyloid gene cannot explain the molecular pathology for all cases of Alzheimer's disease.

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f73777dee0f802153a1b26c3c1a5967aTest
https://doi.org/10.1038/329153a0Test

2

SIMPLE mutation analysis in dominant demyelinating Charcot-Marie-Tooth disease: three novel mutations

المؤلفون: Victor Chan, Claude Stoll, Philippe Latour, François Ziegler, Elisabeth Ollagnon, Serge Perelman, Tanya Stojkovic, Christophe Vial, Antoon Vandenberghe, Pierre-Marie Gonnaud, Irène Maire

المصدر: Journal of the Peripheral Nervous System. 11:148-155

الوصف: Charcot-Marie-Tooth disease type 1C (CMT1C) is caused by mutations in the small integral membrane protein of the lysosome/late endosome (SIMPLE). We analyzed the coding sequence of SIMPLE in DNA of 53 unrelated cases of dominant demyelinating CMT disease with no mutations in PMP22, GJB1, MPZ, EGR2, and NEFL genes. Four different missense mutations were observed in six families. The mutation Gly112Ser was found in two families confirming its frequent occurrence in SIMPLE mutations. Three novel mutations were also identified: Ala111Gly (two families), Pro135Ser, and Pro135Thr. Familial studies revealed that all carriers of mutations (n = 38), aged from 1 to 78 years, were symptomatic, notably children under 10 years (n = 8). Motor conduction velocities in the median nerve ranked from 16.4 to 32.8 m/s (n = 20). In our series of 968 unrelated dominant demyelinating CMT cases (1992-2005), the percentage of SIMPLE mutations was 0.6 (6/968).

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a3d34af2f9a99e1e289ed83775a6598aTest
https://doi.org/10.1111/j.1085-9489.2006.00080.xTest

3

Vocal cord and diaphragm paralysis, as clinical features of a French family with autosomal recessive Charot-Marie-Tooth disease, associated with a new mutation in the GDAP1 gene

المؤلفون: Philippe Latour, Jérôme De Seze, Patrick Vermersch, Antoon Vandenberghe, J.-F. Hurtevent, Tanya Stojkovic, Ghislaine Viet

المصدر: Neuromuscular Disorders. 14:261-264

الوصف: Axonal forms of Charot-Marie-Tooth disease, either dominantly or recessively inherited, are clinically and genetically heterogeneous. We describe the clinical and electrophysiological characteristics of an axonal autosomal recessive form of Charot-Marie-Tooth disease in a French family, associated with a new mutation of the ganglioside-induced differentiation-associated protein-1 gene (GDAP1). Two sisters, born to non-consanguineous parents, presented severe proximal and distal sensorimotor deficit, areflexia, pes cavus, scoliosis and vocal cord and diaphragm paralysis. They lost ambulation in the third decade and since then they have been wheelchair bound. Nerve conduction studies were consistent with an axonal neuropathy. Clinical and electrophysiological examination of their parents and their brother was normal. Genetic analysis revealed a homozygous thymidine deletion at nucleotide position 558 resulting in a frameshift at codon 186 and a stop codon at position 205. This axonal form of Charot-Marie-Tooth disease associated with a new GDAP1 mutation is recessively inherited and is characterized by a severe phenotype, since patients become wheelchair bound in the third decade, and present vocal cord and diaphram paralysis, which may be missed as they had no respiratory symptoms until the third decade.

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::296f8faeeb710abed311eb508be974b7Test
https://doi.org/10.1016/j.nmd.2004.01.003Test

4

Polymorphic Short Tandem Repeats for Diagnosis of the Charcot-Marie-Tooth 1A Duplication

المؤلفون: Laetitia Boutrand, Antoon Vandenberghe, Philippe Latour, Francine Claustrat, Michel Boucherat, Nicolas Lévy, Guy Chazot, Rafaëlle Bernard, Amandine Boyer

المصدر: Clinical Chemistry. 47:829-837

الوصف: Background: A 1.5-Mb microduplication containing the gene for peripheral myelin protein 22 (PMP22) on chromosome 17p11.2-12 is responsible for 75% of cases of the demyelinating form of Charcot-Marie-Tooth disease (CMT1A). Methods for molecular diagnosis of CMT1A use Southern blot and/or amplification by PCR of polymorphic poly(AC) repeats (microsatellites) located within the duplicated region, or the detection of junction fragments specific for the duplication. Difficulties with both strategies have led us to develop a new diagnostic strategy with highly polymorphic short tandem repeats (STRs) located inside the CMT1A duplicated region. Methods: We tested 10 STRs located within the duplication for polymorphic behavior. Three STRs were selected and used to test a set of 130 unrelated CMT1A patients and were compared with nonduplicated controls. The study was then extended to a larger population of patients. Alleles of interest were sequenced. A manual protocol using polyacrylamide electrophoresis and silver staining and an automated capillary electrophoresis protocol to separate fluorescently labeled alleles were validated. Results: We identified three new STRs covering 0.55 Mb in the center of the CMT1A duplication. One marker, 4A, is located inside the PMP22 gene. The two others, 9A and 9B, more telomerically positioned, have the highest observed heterozygosity reported to date for CMT1A markers: 0.80 for 9A, and 0.79 for 9B. Tetra- and pentanucleotide repeats offered clear amplification, accurate sizing, and easy quantification of intensities. Conclusions: Combined use of the three STRs allows robust diagnosis with almost complete informativeness. In our routine diagnosis for CMT1A, they have replaced the use of other polymorphic markers, either in a manual adaptation or combined with fluorescence labeling and allele sizing on a DNA sequencer.

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d5d44e961adc57e1ced5991837499170Test
https://doi.org/10.1093/clinchem/47.5.829Test

5

Mild recurrent neuropathy in CMT1B with a novel nonsense mutation in the extracellular domain of the MPZ gene

المؤلفون: Xavier Ferrer, Philippe Latour, Marie Rouanet, Claude Vital, Alain Lagueny, A. Vital, G Le Masson, Antoon Vandenberghe

المصدر: Journal of Neurology, Neurosurgery & Psychiatry. 70:232-235

الوصف: Clinical, electrophysiological, and neuropathological features are reported associated with a novel heterozygote point mutation in the extracellular domain of the MPZ gene, where a transversion at codon 71 in exon 3 leads to a codon stop: Glu71stop (ie GAA→TAA). A 36 year old woman developed a mild recurrent neuropathy after intensive manual work. The motor nerve conduction velocities were slow without conduction blocks and the nerve biopsy showed signs of demyelination-remyelination, axonal loss, and regular uncompacted myelin lamellae. She inherited the mutation from her father who displayed the same mutation with a normal phenotype. This nonsense mutation may cause a dosage difference of normal P0, and is probably underrepresented in the current mutation data bases. This report further extends the phenotype of MPZ mutations and also emphasises that mild phenotype of CMT1B may be more frequent than has been appreciated.

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::19706f650d389b401a997386723b3c26Test
https://doi.org/10.1136/jnnp.70.2.232Test

6

Mutational analysis and genotype/phenotype correlation in Turkish Charcot-Marie-Tooth Type 1 and HNPP patients

المؤلفون: Nisrine Bissar-Tadmouri, Piraye Serdaroglu, Yesim Parman, L Boutrand, Feza Deymeer, Antoon Vandenberghe, Esra Battaloglu

المصدر: Clinical Genetics. 58:396-402

مصطلحات موضوعية: Genetics, education.field_of_study, Myelin protein zero, Point mutation, Locus (genetics), Biology, Frameshift mutation, Genotype, Gene duplication, Connexin 32, education, Gene, Genetics (clinical)

الوصف: The major Charcot- Marie-Tooth Type 1 (CMT1) locus, CMT1A, and Hereditary neuropathy with liability to pressure palsies (HNPP) cosegregate with a 1.5-Mb duplication and a 1.5-Mb deletion, respectively, in band 17p11.2. Point mutations in peripheral myelin gene 22 (PMP22), myelin protein zero (MPZ), and connexin 32 (Cx32) have been reported in CMT1, and in PMP22 in HNPP patients without deletion. We have screened 54 CMT1 patients, of variable clinical severity, and 25 HNPP patients from Turkey, with no duplication or deletion, for mutations in the PMP22 and Cx32 genes. A novel frameshift mutation affecting the second extracellular domain of PMP22 was found in an HNPP patient, while a point mutation in the second transmembrane domain of the protein was detected in a CMT1 patient. Two point mutations affecting different domains of Cx32 were identified in two CMTX patients. Another patient was found to carry a polymorphism in a non-conserved codon of the Cx32 gene. The clinical phenotypes of the patients correlate well with the effect of the mutation on the protein.

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::cdea0c3e5853b6b95298dd650606b876Test
https://doi.org/10.1034/j.1399-0004.2000.580511.xTest

7

Chronic inflammatory demyelinating polyneuropathy caused by HIV infection in a patient with asymptomatic CMT 1A

المؤلفون: Xavier Ferrer, Anne Vital, Yusuf A. Rajabally, Alain Lagueny, Jean Julien, Antoon Vandenberghe, Philippe Latour, Claude Vital

المصدر: Journal of the Peripheral Nervous System. 5:158-162

الوصف: It is well known that patients with Charcot-Marie-Tooth (CMT) disease are liable to present with episodes of cortisone-responsive demyelination, and a superimposed inflammatory component has been suggested. We report a patient who presented with a chronic inflammatory demyelinating polyneuropathy due to a recent HIV infection, which revealed a previously asymptomatic CMT 1A disease documented by identification of the characteristic duplication on the p11.2 region of chromosome 17. The inflammatory process was characterized by pathologic findings on a superficial peroneal nerve biopsy, and the patient improved significantly after corticotherapy. This report gives support to the hypothesis of a genetic susceptibility to inflammatory demyelinating processes in certain CMT kindreds.

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b0e693cb4c2e5671e8d421fdad1f3261Test
https://doi.org/10.1046/j.1529-8027.2000.00014.xTest

8

Homologous DNA Exchanges in Humans Can Be Explained by the Yeast Double-Strand Break Repair Model: A Study of 17p11.2 Rearrangements Associated with CMT1A and HNPP

المؤلفون: Francesco Palau, Merle Ruberg, Kaisa Silander, Antoon Vandenberghe, S. Tardieu, Ian P. Blair, Alexis Brice, Judith Lopes, Eric LeGuern

المصدر: Publons

الوصف: Rearrangements in 17p11.2, responsible for the 1.5 Mb duplications and deletions associated, respectively, with autosomal dominant Charcot-Marie-Tooth type 1A disease (CMT1A) and hereditary neuropathy with liability to pressure palsies (HNPP) are a suitable model for studying human recombination. Rearrangements in 17p11.2 are caused by unequal crossing-over between two homologous 24 kb sequences, the CMT1A-REPs, that flank the disease locus and occur in most cases within a 1.7 kb hotspot. We sequenced this hotspot in 28 de novo patients (25 CMT1A and three HNPP), in order to localize precisely, at the DNA sequence level, the crossing-overs. We show that some chimeric CMT1A-REPs in de novo patients (10/28) present conversion of DNA segments associated with the crossing-over. These rearrangements can be explained by the double-strand break (DSB) repair model described in yeast. Fine mapping of the de novo rearrangements provided evidence that the successive steps of this model, heteroduplex DNA formation, mismatch correction and gene conversion, occurred in patients. Furthermore, the model explains 17p11.2 recombinations between chromosome homologues as well as between sister chromatids. In addition, defective mismatch repair of the heteroduplex DNA, observed in two patients, resulted in two heterozygous chimeric CMT1A-REPs which can be explained, as in yeast, by post-meiotic segregation. This work supports the hypothesis that the DSB repair model of DNA exchange may apply universally from yeasts to humans.

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e8303a7f782f896cd2719e86d2dc2d34Test
https://doi.org/10.1093/hmg/8.12.2285Test

9

Demyelinating X-linked Charcot-Marie-Tooth disease: Unusual electrophysiological findings

المؤلفون: Jean-Michel Vallat, Philippe Sindou, Antoon Vandenberghe, E. Lagrange, F. Tabaraud, Nicolas Lévy

المصدر: Muscle & Nerve. 22:1442-1447

الوصف: X-linked Charcot-Marie-Tooth disease (CMT-X) is caused by mutations of connexin-32 (Cx-32), which encodes a gap-junction protein. Whether the neuropathy is primarily demyelinative or axonal remains to be established. We report findings of prominent demyelination in a 71-year-old woman with late-onset disease. Electrophysiological studies revealed a nonuniform slowing of motor conduction velocities and dispersion of compound action potentials indicative of a demyelinating process which was confirmed by nerve biopsy. Such electrophysiological features are unusual in hereditary neuropathies and are more commonly found with acquired chronic demyelinating neuropathies. A systematic search confirmed the molecular genomic diagnosis of CMT-X, illustrating the value of such tests in sporadic cases. Severity of clinical symptoms and signs may vary with age and sex of the patient. The pathology of CMT-X in other reported cases has been variably interpreted as axonal, demyelinating, or showing both features. Our observations emphasize the demyelinative nature.

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::6276f2b6da5ab0484b5e979e59a9aca3Test
https://doi.org/10.1002Test/(sici)1097-4598(199910)22:10<1442::aid-mus16>3.0.co;2-6

10

Peripheral myelin modification in CMT1B correlates with MPZ gene mutations

المؤلفون: I Bernard, Alain Lagueny, A. Vital, Antoon Vandenberghe, G Le Masson, Yusuf A. Rajabally, Xavier Ferrer, Philippe Latour, Jean Julien, Claude Vital

المصدر: Neuromuscular Disorders. 9:361-367

الوصف: Morphological modifications were investigated in the peripheral nerve of three unrelated patients with CMT1B. In two patients, molecular genetic analysis showed an Arg98His mutation in the extracellular domain of MPZ, associated with irregularly uncompacted lamellae. This observation confirms previous studies of a well-defined correlation between mutations and morphological phenotypes. In the third patient, a de novo Asp109Asn mutation was associated with abnormally thick myelin sheaths. This adds to the known list of MPZ gene mutations associated with this morphological phenotype.

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::39af762c45bb17f2a88c5a2a5e1e2afcTest
https://doi.org/10.1016/s0960-8966Test(99)00031-0

تنقيح النتائج