Denise Louis-Bar :  The eponymous woman of Louis-Bar syndrome

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Abstract

In 1941, Denise Louis-Bar described a child with ataxia and telangiectasia in Confinia Neurologica. The following decade led to an expanse in publications about the disorder with concomitant controversy regarding naming of the disease. While ataxia-telangiectasia is the predominant term used for the disease, Louis-Bar syndrome persists in the medical literature. Despite the persistence of this eponym, little is known about Denise Louis-Bar. Archival materials and information provided from Louis-Bar's Belgian colleagues were examined. Louis-Bar's neurologic training was followed by a productive academic career then private practice emphasizing rehabilitation of neurologic disease, demonstrating her diverse abilities and interests.

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A single ataxia telangiectasia gene with a product similar to PI-3 kinase.

K. Savitsky, A Bar-Shira, S Gilad … (1995)

A gene, ATM, that is mutated in the autosomal recessive disorder ataxia telangiectasia (AT) was identified by positional cloning on chromosome 11q22-23. AT is characterized by cerebellar degeneration, immunodeficiency, chromosomal instability, cancer predisposition, radiation sensitivity, and cell cycle abnormalities. The disease is genetically heterogeneous, with four complementation groups that have been suspected to represent different genes. ATM, which has a transcript of 12 kilobases, was found to be mutated in AT patients from all complementation groups, indicating that it is probably the sole gene responsible for this disorder. A partial ATM complementary DNA clone of 5.9 kilobases encoded a putative protein that is similar to several yeast and mammalian phosphatidylinositol-3' kinases that are involved in mitogenic signal transduction, meiotic recombination, and cell cycle control. The discovery of ATM should enhance understanding of AT and related syndromes and may allow the identification of AT heterozygotes, who are at increased risk of cancer.