Sunday, June 14, 2015

Third Day at 2015 American Association of Neuropathologists Meeting: Gene therapy, Amyloid Angiopathy, and the Diagnostic Slide Session

Day #3 of the annual AANP meeting commenced with a series of interesting platform sessions. Of particular note was a presentation by Dr. Michael Lawlor on results of AAV8-MTM1 gene therapy to correct muscle dysfunction in a canine model of X-linked myotubular myopathy. Dr. Lawlor showed some dramatic videos of puppies with severe muscular dysfunction who were restored to fully normal motor function after as little as one gene therapy treatment. As one audience member commented: "It's a relief, after all these years of experimentation, to see a case where gene therapy actually works!" The Korey Lecture in the morning was delivered by Dr. Matthew Frosch, who addressed cerebral amyloid angiopathy (CAA). While all neuropathologists recognize the risk of cerebral hemorrhage associated with CAA, Dr. Frosch focused on a subset of CAA patients with associated granulomatous inflammation who show cognitive decline and seizures. This subset can show dramatic improvement with immunosuppressive therapy. Among the more emotional moments of the meeting occurred today Meritorious Awards were bestowed upon two individuals who have made a significant impact on neuropathology both in scientific achievement and in service. This year's awards went to Drs. Bette K. Kleinschmidt-DeMasters and John Q. Trojanowski. Speaking of emotion, one of the aspects of coming to the AANP meeting that is not adequately acknowledged is the precious interactions we have between the formal presentations. Informal discussions which give encouragement, advice, or information are perhaps the most important part of this annual event. Our specialty is small, with many of us working in relative isolation. Chatting over a cup of coffee with a colleague brings a connectedness to like-minded individuals that renews enthusiasm for the jobs that each of us will go back to on Monday. Finally, as always, the most entertaining part of the meeting was the Diagnostic Slide Session (DSS). This year's slide session, hosted by Dr. Katerina Giannini, lived up to its long tradition of presenting great cases accompanied by insightful commentary from audience members. Among the DSS diagnoses this year were dural-based EBV-related smooth muscle tumor, Balo's concentric sclerosis, Machado-Joseph disease, and my personal favorite: copper deficiency myelopathy.
AANP 2015 Diagnostic Slide Session (Denver, CO)

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