Paper Summary:

This paper, written for a first-year medical school course, focuses on the genetic disorder, ataxia telangiectasia (AT). A variety of topics related to the disease are discussed at length, including the differential diagnosis for AT, the molecular basis for the disease, pathogenesis and prognosis for patients, treatment options, and genetic counseling issues. The paper is well-referenced with a number of sources from current medical journals and textbooks.

From the Paper:

"In 1926, two French physicians submitted a report to a neurological journal describing their unusual findings in three adolescent patients with progressive early-onset choreoathetosis and oculocutaneous telangiectasiae. The full significance of their initial report was not realized until some thirty years later, after multiple reports describing a similar syndrome appeared nearly simultaneously in both Europe and the United States. The disease was descriptively named ataxia telangiectasia, and scientists and physicians alike have worked since that time to characterize and treat the disease."

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