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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
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: [email protected]
Help support research on Alexander Disease at the University of Wisconsin-Madison's Waisman Center:
Chapters
1. Alexander Disease Research Update - Episode #5 - case report with silent mutation and area postrema syndrome; neuropsychological testing (00:00:00)
2. Svrivastava et al. (00:01:28)
3. Renaldo et al. (00:02:20)
4. Kirsch et al. (00:10:32)
5. Questions from email (00:21:36)
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