Alexander Disease Research Update - Episode #5 - case report with silent mutation and area postrema syndrome; neuropsychological testing
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.
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