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Alexander Disease Research Update - Episode #5 - case report with silent mutation and area postrema syndrome; neuropsychological testing
Manage episode 310560598 series 2952470
Konten disediakan oleh Albee Messing. Semua konten podcast termasuk episode, grafik, dan deskripsi podcast diunggah dan disediakan langsung oleh Albee Messing atau mitra platform podcast mereka. Jika Anda yakin seseorang menggunakan karya berhak cipta Anda tanpa izin, Anda dapat mengikuti proses yang dijelaskan di sini https://id.player.fm/legal.
Albee Messing, Amy Waldman, and Nina Thomas discuss the following recent publications:
[01:28] Srivastava S, Waldman A, Naidu S (2020) Alexander disease. In: GeneReviews(®) (Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Mirzaa G, Amemiya A, eds). Seattle (WA): University of Washington, Seattle [review, focusing on clinical aspects] [full text]
[02:20] Renaldo F, Chalard F, Valence S, Burglen L, Rodriguez D. (2021). Area postrema syndrome as the initial presentation of Alexander disease. Neurology 97, 548-549 [short case report]
[10:32] Kirsch AC, McCall DM, Lange H, Renaud D, Brown T, Zaccariello MJ. (2021). Neuropsychological functioning in Alexander disease: a case series. Child Neurology Open 8, 2329048x211048614 [full text] [case #1 MRIs previously reported in Matarese 2008]
[21:36] Questions from email regarding eligibility for blood/organ donation, optic neuropathies, and treatment for vomiting.
Send your questions and feedback to: axdrupodcast@waisman.wisc.edu
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