Biomedical subjects

Corinne Magdelaine

Publications and source records attributed to Corinne Magdelaine.

3 recordsLinked to original sources

PubMed2005

Autosomal-recessive Charcot-Marie-Tooth diseases.

In certain countries around the Mediterranean basin such as Algeria, which have a high prevalence of consanguineous marriages, autosomal-recessive (AR) inheritance may account for more than 50% of all forms of Charcot-Marie-Tooth (CMT) disease. Like with the dominant forms, it is usual to differentiate the demyelinating forms (CMT 4 corresponding to autosomal-recessive CMT 1 [AR-CMT 1] from the axonal forms [AR-CMT 2]). Genetic analysis of large families with recessive transmission has uncovered novel CMT genotypes (genes: GDAP 1, MTMR 2, MTMR 13, KIAA1985, NDGR1, periaxi, lamin). The clinical and especially the histologic phenotypes often indicate that a specific gene is implicated. We present and discuss microscopic lesions seen on nerve biopsies from patients in a number of consanguineous Algerian families, and we outline the characteristic lesions that would prompt a search for mutations in genes such as MTMR 2, MTMR 13, KIAA1985, periaxin for CMT 4, and lamin for AR-CMT 2. Like with the dominant forms, there are undoubtedly many more mutations of other genes to be discovered.

Charcot-Marie-Tooth Disease↗

PubMed2005

IgG neuropathy: an immunoelectron microscopic study.

There are many potential mechanisms of peripheral nerve impairment by a monoclonal IgG dysglobulinemia. In this study, using electron microscopy, we observed widening of the myelin lamellae comparable to that commonly described in IgM neuropathies with antimyelin-associated glycoprotein activity. Such features have yet to be described in IgG neuropathies. In addition, we observed deposits of a granular material in the interstitial tissue of the nerve. By immunoelectron microscopy, we demonstrated the presence of the IgG in the lesions of myelin and the endoneurial space. A direct link between monoclonal dysglobulinemia (regardless of type) and polyneuropathy should be confirmed by nerve biopsy, because the result may influence treatment.

Antibodies, Anti-Idiotypic↗

PubMed2005

[Autosomal recessive forms of Charcot-Marie-Tooth disease].

In some countries with a high prevalence of consanguineous mariage, autosomal recessive inheritance probably accounts for the vast majority of all forms of CMT. Like dominant forms, autosomal recessive forms are generally subdivided into demyelinating forms (autosomal recessive CMT1: AR-CMT1 or CMT4) and axonal forms (AR-CMT2). Genetic analysis of large families with recessive transmission has identified several novel CMT-related genes (GDAP1, MTMR2, MTMR13, KIAA1985, NDGR1, periaxin and lamin). Given the clinical, electrophysiological and histological heterogeneity of this disease, numerous culprit genes probably remain to be discovered, leading to an even more complex classification. Clinical and histological features often point to the involvement of a particular gene. Nerve biopsy and molecular studies can contribute to the diagnosis, but this approach is highly time-consuming and can only be performed in specialized laboratories.

Charcot-Marie-Tooth Disease↗