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Biomedical subjects

P Bouche

Publications and source records attributed to P Bouche.

At least 19 recordsLinked to original sources
PubMed1996

A de novo case of hereditary neuropathy with liability to pressure palsies (HNPP) of maternal origin: a new mechanism for deletion in 17p11.2?

Hereditary neuropathy with liability to pressure palsies (HNPP) is an autosomal dominant neuropathy, most often associated with a deletion of the 17p11.2 region, which is duplicated in 70% of patients with Charcot-Marie-Tooth type 1 (CMT1A). Most de novo CMT1A and HNPP cases have been of paternal origin. A rare case of de novo HNPP of maternal origin was analysed to determine the underlying mechanism. Affected individuals in the family carried a deletion corresponding to the CMT1A/HNPP monomer unit associated with a rearrangement of the CMT1A-REP sequences. Segregation analysis of 17p11-p12 markers in the family indicated that the deletion was not generated by unequal crossing over between homologous 17 chromosomes, as in de novo cases from paternal origin, but rather by an intrachromosomal rearrangement. Two distinct mechanisms can therefore lead to the same 17p11.2 deletion. This result suggests that intrachromosomal rearrangement may be specific to maternal transmissions.

Adult↗
PubMed1996

Peripheral neuropathy associated with essential mixed cryoglobulinaemia: a role for hepatitis C virus infection?

BACKGROUND: The prevalence of hepatitis C virus (HCV) infection has been estimated at 43 to 84% in patients with essential mixed cryoglobulinaemia in recent large series. Some of these cases have been successfully treated with interferon-alpha. The objective was to evaluate the prevalence and the possible role of HCV infection in essential mixed cryoglobulinaemia. METHODS: Fifteen patients (eight men and seven women; mean age: 61.2 (SD 16.5) years) with peripheral neuropathy (10 polyneuropathies and five multifocal mononeuropathies) and essential mixed cryoglobulinaemia were tested for serum anti-HCV antibodies. RESULTS: Antibodies were found in 10 of 15 patients involving either polyneuropathies (seven patients) or multifocal mononeuropathies (three patients). Electrophysiological studies and teased nerve fibre studies (in seven patients) allowed neuropathies to be classified as predominantly sensory axonopathies. Compared with HCV-negative (HCV -) patients, HCV-positive (HCV +) patients had a more pronounced and more widespread motor deficit; motor nerve conduction velocities in peroneal and median nerves were more impaired in HCV + patients, although significance was not reached except for the mean value of the amplitude of the compound muscle action potentials of the median nerves (P < 0.05); necrotising vasculitis was found in two of nine nerve biopsies from the HCV + patients studied and in none of the three HCV - patients. In addition, HCV + patients had more frequent cryoglobulin related cutaneous signs, higher aminotransferase and serum cryoglobulin concentrations, lower total haemolytic complement concentrations, and more frequent presence of rheumatoid factor. A liver biopsy performed in eight HCV + patients disclosed a range of lesions, from chronic active hepatitis (six patients) to persistent hepatitis (two patients). Lastly, treatment with interferon-alpha conducted over six months in two patients seemed to improve the peripheral neuropathy. CONCLUSIONS: Patients with peripheral neuropathy and essential mixed cryoglobulinaemia should be tested for anti-HCV antibodies to determine the appropriate treatment.

Adult↗
PubMed1996

Chronic dysimmune demyelinating polyneuropathy: a clinical and electrophysiological study of 93 patients.

OBJECTIVES: To identify clinical, electrophysiological, and immunological characteristics of chronic immune demyelinating polyneuropathy to define for each group the appropriate therapeutic strategies. METHODS: The clinical and electrophysiological data and the response to treatment of 93 patients with an acquired chronic dysimmune demyelinating polyneuropathy (CDDP) studied over a period of 10 years were reviewed. Two groups were identified: group 1, comprising 64 patients with an idiopathic CDDP, of whom 13 had serum monoclonal or polyclonal gammopathy without detectable antibodies directed against the "myelin associated glycoprotein" (MAG), and group 2, comprising 29 patients with an IgM monoclonal gammopathy of undetermined significance (MGUS) with antibodies binding to the MAG. RESULTS: Group 1 patients had either a progressive or relapsing course. The relapsing course had more pronounced distal slowing of motor conduction velocity. In group 1, there were no significant clinical or electrophysiological differences between patients with or without gammopathy. Patients with anti-MAG antibody (group 2) differed significantly from group 1 patients, especially on the basis of electrophysiological results. They had a more pronounced slowing of peroneal motor nerve conduction velocity, a lower frequency of conduction block, and a distal accentuation of conduction slowing, distinguishing them from those with idiopathic CDDP, Charcot-Marie-Tooth polyneuropathy type 1A, and control subjects. CONCLUSION: The idiopathic CDDP group is heterogeneous with probably different subgroups. Patients with IgM MGUS polyneuropathy and anti-MAG antibodies have characteristics which distinguish them significantly from other CDDP and suggest different immune mechanisms and responses to treatment.

Adolescent↗
PubMed1996

Microsatellite mapping of the deletion in patients with hereditary neuropathy with liability to pressure palsies (HNPP): new molecular tools for the study of the region 17p12 --> p11 and for diagnosis.

Hereditary neuropathy with liability to pressure palsies (HNPP) is an autosomal dominant peripheral neuropathy characterized by recurrent episodes of nerve palsies. We have analyzed 11 microsatellite markers from chromosome 17p12 --> p11 in nine French families with HNPP. The three microsatellites D17S839 (afm200yb12), D17S955 (afm317ygl), and D17S921 (afm191xh12) were localized in the deleted region. In allele segregation analyses, the microsatellite D17S793 (afm165zd4) detected two chromosome 17-linked loci, one of which was deleted in HNPP patients. Using these STR markers, we found that the deletion coincided with the CMT1A/HNPP monomer unit in eight of the nine families. In the remaining pedigree, the deletion lay between the centromeric microsatellite D17S805 (afm234tal) and the telomeric marker D17S922 (afm197xh6), which flank the CMT1A monomer unit. Comparison of these data with the available genetic and physical maps of 17p12 --> p11 shows that this region, which is frequently subject to rearrangement-inducing diseases, such as Smith-Magenis syndrome, Charcot-Marie-Tooth type 1A, and HNPP, presents recombination hot spots. Finally, this study demonstrates the usefulness of the D17S122 (RM11GT) and D17S921 (afm191xh12) microsatellites as tools for the molecular diagnosis of HNPP.

Chromosome Aberrations↗
PubMed1996

Recombination hot spot in a 3.2-kb region of the Charcot-Marie-Tooth type 1A repeat sequences: new tools for molecular diagnosis of hereditary neuropathy with liability to pressure palsies and of Charcot-Marie-Tooth type 1A. French CMT Collaborative Research Group.

Charcot-Marie-Tooth type 1A (CMT1A) disease and hereditary neuropathy with liability to pressure palsies (HNPP) are autosomal dominant neuropathies, associated, respectively, with duplications and deletions of the same 1.5-Mb region on 17p11.2-p12. These two rearrangements are the reciprocal products of an unequal meiotic crossover between the two chromosome 17 homologues, caused by the misalignment of the CMT1A repeat sequences (CMT1A-REPs), the homologous sequences flanking the 1.5-Mb CMT1A/HNPP monomer unit. In order to map recombination breakpoints within the CMT1A-REPs, a 12.9-kb restriction map was constructed from cloned EcoRI fragments of the proximal and distal CMT1A-REPs. Only 3 of the 17 tested restriction sites were present in the proximal CMT1A-REP but absent in the distal CMT1A-REP, indicating a high degree of homology between these sequences. The rearrangements were mapped in four regions of the CMT1A-REPs by analysis of 76 CMT1A index cases and 38 HNPP patients, who where unrelated. A hot spot of crossover breakpoints, located in a 3.2-kb region, accounted for three-quarters of the rearrangements, detected after EcoRI/SacI digestion, by the presence of 3.2-kb and 7.8-kb junction fragments in CMT1A and HNPP patients, respectively. These junction fragments, which can be detected on classical Southern blots, permit molecular diagnosis. Other rearrangements can also be detected by gene dosage on the same Southern blots.

Charcot-Marie-Tooth Disease↗
PubMed1996

[Chronic idiopathic polyradiculoneuritis. Clinical, electrophysiological and histopathological aspects].

Idiopathic chronic inflammatory polyradiculoneuropathies are probably due to dysimmune mechanisms. They form a distinct entity defined by clinical, electrophysiological, histopathological criteria and by their evolution and response to treatment. The homogeneity of that syndrome, the exact nature of the underlying pathological processus, the natural history and the responses to treatment are still debated. Need to more studies, especially of immunologic nature, to precise limits and criteria of such a syndrome. Chronic polyradiculoneuropathy is different from acute form mainly by evolution. Within the chronic form, the progressive and relapsing forms can be distinguished with different electrophysiologic characteristics. These 2 forms share the same electrophysiologic aspect of chronic demyelination which is characterized by slowing of nerve conduction, conduction block and temporal dispersion. They had some specific different features such as the heterogeneity of the conduction failure and the multifocal distribution of demyelinating lesions. The histopathologic lesions are those of demyelination-remyelination with some degree of axonal damage, although inflammatory infiltrates are not frequent. In the majority of cases, the motor deficit is dominant although pure sensory forms have been reported. In few cases, central nervous system involvement is described. Idiopathic polyradiculoneuropathies had different electrophysiologic features than polyneuropathies associated with IgM monoclonal gammopathy and anti-MAG activity, these later presenting more distal and homogeneous abnormalities.

Acute Disease↗
PubMed1996

[Peripheral neuropathies associated with IgM monoclonal gammopathy: clinical and electrophysiological aspects].

Polyneuropathies associated with IgM monoclonal gammopathy (IgM-MG) are the most frequent type of peripheral neuropathy (PN) associated with monoclonal gammopathy. The pathogenic relevance of IgM-MG in PN is supported by several arguments, the more significants are pathological data on neuromuscular biopsies and the demonstration of IgM antibody activity to peripheral nerve antigens, mainly myelin-associated-glycoprotein (MAG) and sulfated glucuronyl paragloboside (SGPG). In addition recently reported series show that there is a significant correlation between clinical/electrophysiological data of PN, and IgM-MG antibody activity, in more than 75% of cases. Those features are in favour of an immune-mediated disease.

Electrophysiology↗
PubMed1995

Anti-sulfoglucuronyl paragloboside IgM antibodies in amyotrophic lateral sclerosis.

We report here our results on IgM anti-sulfated glucuronyl paragloboside (SGPG) antibodies in sera from patients with amyotrophic lateral sclerosis (ALS). Studies by enzyme linked immunosorbent assay on 72 ALS sera showed IgM polyclonal reactivity towards SGPG in 25 cases. The titer was high in 16 cases. Thin-layer chromatography immuno-overlay showed that reactivity with SGPG was associated to reactivity towards GM1 in five cases and to GM1 and GD1b in one case. Anti-SGPG reactivity was not found in controls and in multifocal motor neuropathy with conduction blocks, in contrast to anti-GM1 antibodies. The presence of anti-SGPG antibodies in ALS patients sera raise again the question of autoimmunity in this pathology.

Amyotrophic Lateral Sclerosis↗
PubMed1995

Multifocal motor neuropathy with conduction block: a study of 24 patients.

Twenty four patients with pure motor neuropathy are reported. The chronic motor involvement associated with fasciculations and cramps, mainly in the arms, led, in most patients, to an initial diagnosis of motor neuron disease. In some patients (nine of 24), there was no appreciable muscle atrophy. Tendon reflexes were often absent or weak. The finding of persistent multifocal conduction block confined to motor nerve fibres raises questions about the nature and the importance of this syndrome. Segmental reduction of motor conduction velocity occurred at the site of the block, but significant slowing of motor nerve conduction was not found outside this site. The response to intravenous IVIg treatment seems to be correlated with the absence of amyotrophy. Patients with little or no amyotrophy had an initial and sustained response to IVIg, and did not develop amyotrophy during the follow up study. They could be considered to have a variant of chronic inflammatory demyelinating polyneuropathy. Patients with pronounced amyotrophy independent of the disease duration did not respond as well to IVIg treatment, suggesting the existence of a distinct entity. Among the patients treated about two thirds who had an initial good response to IVIg had high or significant antiganglioside GM1 (anti-GM1) antibody titres, but there was no correlation between the high titres before treatment and long lasting response to IVIg treatment.

Adult↗
PubMed1995

Clinical, electrophysiologic, and molecular correlations in 13 families with hereditary neuropathy with liability to pressure palsies and a chromosome 17p11.2 deletion.

Hereditary neuropathy with liability to pressure palsies (HNPP) is an autosomal dominant disease characterized by recurrent episodes of acute nerve palsies. We performed a clinical, electrophysiologic, and molecular study of 13 French families with HNPP associated with a chromosome 17p11.2 deletion in 36 individuals. There were electrophysiologic abnormalities in all symptomatic (n = 28) and asymptomatic (n = 8) deletion carriers, even in childhood. Bilateral delayed distal motor latency of the median nerve at the wrist, reduced sensory velocity in the palm-wrist segment, and delayed distal motor latency or reduced motor velocity in the peroneal nerve was diagnostic in at-risk relatives. This large series confirms the reliability of molecular analysis combined with a simplified electrophysiologic examination for the diagnosis of HNPP associated with 17p11.2 deletion.

Adolescent↗
PubMed1994

Human immunoglobulin treatment of multifocal motor neuropathy and polyneuropathy associated with monoclonal gammopathy.

Intravenous human immune globulin (IVIg) has been proposed for the treatment of various peripheral neuropathies that are considered to be immunemediated. The results are reported of an open trial conducted in multifocal motor neuropathy and polyneuropathy associated with monoclonal gammopathy. Six cases with multifocal motor neuropathy, selected on clinical and electrophysiological criteria (four of six patients also had significantly high anti-GM1 titres), received IVIg monthly, at doses varying from 1.6 to 2.5 mg/kg, over three to 13 months. The initial response to treatment was dramatic in 3/6 cases (with improvement of at least two grades on the MRC scale in the five more severely affected muscles). The final evaluation showed a good result in 4/6 cases, but the conduction blocks were not significantly reduced. In 13 other cases with polyneuropathy associated with IgM monoclonal gammopathy of unknown significance, IVIg was of benefit, with improvement of at least one grade on the Prineas score, in 4/7 cases previously treated with immunosuppression and 2/3 cases not treated before IVIg. In the last group of four patients with polyneuropathy and IgG monoclonal gammopathy, IVIg was followed by clinical improvement in the two cases with a chronic demyelinating polyneuropathy.

Humans↗
PubMed1994

Detection of deletion within 17p11.2 in 7 French families with hereditary neuropathy with liability to pressure palsies (HNPP).

Hereditary neuropathy with liability to pressure palsies (HNPP) is an autosomal dominant peripheral neuropathy which is characterized by recurrent episodes of truncular palsies. We have analyzed the D17S122 locus in 7 French families, including 18 affected members, with microsatellite RM11GT and the RFLP probe VAW409R3a. Only one allele could be detected in all affected individuals with the highly polymorphic RM11GT marker. Allele segregation at D17S122 showed no contribution from the affected parent to the affected child, demonstrating that an interstitial deletion within the 17p11.2 region is associated with HNPP in the 7 families studied. This same region is duplicated, however, in another inherited neuropathy, Charcot-Marie-Tooth 1A disease. This would be the first example of two dominantly inherited diseases caused by a 'in mirror image' deletion/duplication mechanism where a gene dosage effect would be sufficient to produce two different phenotypes characterized by abnormal myelination of the peripheral nerves. The RM11GT microsatellite is an informative tool for the molecular diagnosis of HNPP.

Alleles↗
PubMed1994

Hereditary neuralgic amyotrophy and hereditary neuropathy with liability to pressure palsies: two distinct clinical, electrophysiologic, and genetic entities.

Hereditary neuralgic amyotrophy (HNA) is an autosomal disease characterized by painful episodes of brachial palsy. The presence of tomacula in some patients suggested that HNA might be genetically related to hereditary neuropathy with liability to pressure palsies (HNPP), caused by point mutations in the PMP22 gene or deletion of the region containing this gene. In a clinical, electrophysiologic, and molecular study of two families with HNA, we show that the PMP22 gene is not deleted, duplicated, or mutated in HNA and that the disease is not linked to any other gene in the HNPP deleted region. We conclude that HNA and HNPP are distinct genetic entities.

Adolescent↗