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Monthly discussion of recent publications from the research literature on Alexander Disease, hosted by Albee Messing from the University of Wisconsin-Madison.
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Alexander Disease Research Update
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Alexander Disease Research Update - Episode #14: whole exome/genome sequencing; more questions on the brainstem
18:17
18:17
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18:17
Albee Messing and Josh Bonkowsky discuss the following recent publication: [02:13] Identification of a novel de novo pathogenic variant in GFAP in an Iranian family with Alexander disease by whole-exome sequencing.European Journal of Medical Research 27, 174 (2022) [full text] [14:20] Questions from email regarding the brainstem in Alexander diseas…
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Alexander Disease Research Update
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Alexander Disease Research Update - Episode #13: MRI diffusion tractography - what can it tell us?
16:35
16:35
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16:35
Albee Messing, Emi Takahashi, Arastoo Vossough, and Amy Waldman discuss the following recent publication: [02:03] Identification of association fibers using ex vivo diffusion tractography in Alexander disease brains Journal of Neuroimaging (in press) Send your questions and feedback to: axdrupodcast@waisman.wisc.edu…
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Alexander Disease Research Update
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Alexander Disease Research Update - Episode #12: GFAP variants and oxidative stress/mitochondrial dysfunction; commentary on dizziness, risks of brain biopsies
25:25
25:25
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25:25
Albee Messing, Rachel Battaglia, and Abby Olsen discuss the following recent publication: [01:00] Alexander disease GFAP R239C mutant shows increased susceptibility to lipoxidation and elicits mitochondrial dysfunction and oxidative stress (Redox Biology, 55:102415, 2022) [14:23] Questions from email regarding 1) dizziness and 2) risks of brain bio…
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Alexander Disease Research Update
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Alexander Disease Research Update - Episode #11: neurology 101 (location, location, location), discussion on the autonomic nervous system
33:45
33:45
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33:45
Albee Messing and Abby Olsen discuss the following recent publication: [03:04] Adult-onset Alexander disease: new causal sequence variant in the GFAP gene. (Neurology: Genetics, in press) [14:15] Autonomic nervous system – part 1 [26:09] Questions from email regarding connecting spinal cord problems and symptoms. [31:17] Autonomic nervous system – …
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Alexander Disease Research Update
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Alexander Disease Research Update - Episode #10: effects of variants in the rod domain on GFAP assembly and aggregation, new ideas about functions of intermediate filaments
34:04
34:04
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34:04
Albee Messing and Natasha Snider discuss the following recent publication: [04:44] Effects of Alexander disease-associated mutations on the assembly and organization of GFAP intermediate filaments (Molecular Biology of the Cell, in press) [28:53] Questions from email regarding heritability, penetrance, and skipping generations. Send your questions …
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Alexander Disease Research Update
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Alexander Disease Research Update - Episode #9: new mechanisms of astrocyte dysfunction, case report with novel variant, commentary on head trauma as an aggravating factor
41:27
41:27
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41:27
Albee Messing, Mel Feany, Florian Eichler, and Ming der Perng discuss the following recent publications: [02:21] Wang L et al. (2022) Anastasis drives senescence and non-cell autonomous neurodegeneration in the astrogliopathy Alexander disease. Journal of Neuroscience (in press) [reports interesting new mechanisms of astrocyte dysfunction] [18:42] …
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Alexander Disease Research Update
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Alexander Disease Research Update - Episode #8 - two case reports, natural history study of 21 pediatric patients, management of constipation
23:54
23:54
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23:54
Albee Messing and Amy Waldman discuss the following recent publications: [01:08] Mateos et al. (2022). Developmental delay and progressive seizures in 2-month-old child with diffuse MRI abnormalities. Brain Pathology e13049 [06:21] Takeuchi et al. (2022) GFAP variant p. Tyr366Cys demonstrated widespread brain cavitation in neonatal Alexander diseas…
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Alexander Disease Research Update
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Alexander Disease Research Update - Episode #7 - common drugs tested in cell culture model; germline mosaicism vs de novo variants; electronic health records in research
27:38
27:38
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27:38
Albee Messing and Michael Brenner discuss the following recent publications: [01:01] Bachetti T et al. (2021). Beneficial Effect of Phenytoin and Carbamazepine on GFAP Gene Expression and Mutant GFAP Folding in a Cellular Model of Alexander's Disease. Frontiers in Pharmacology 12, 723218 [full text] [06:10] Grossi A et al. (2021). Parental Somatic …
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Alexander Disease Research Update
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Alexander Disease Research Update - Episode #6 - silent mutations, case report, new rat model, mouse proteomics
47:48
47:48
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47:48
Albee Messing, Rachel Battaglia, and Peter Todd discuss the following recent publications: But first, revisiting the issue of “silent” mutations. [05:02] Xu, S.Y. et al. (2021). Type II Alexander disease with fragile X mental retardation 1 gene mutation. Clinical Neurology and Neurosurgery 211, 107023 [18:25] Hagemann, T.L. et al. (2021). Antisense…
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Alexander Disease Research Update
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Alexander Disease Research Update - Episode #5 - case report with silent mutation and area postrema syndrome; neuropsychological testing
26:19
26:19
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26:19
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 te…
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Alexander Disease Research Update
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Alexander Disease Research Update - Episode #4 - case report, clinical trials
27:02
27:02
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27:02
Albee Messing and Amy Waldman discuss the following recent publication: [00:40] Amano E, Yoshida T, Mizuta I, Oyama J, Sakashita S, Ueyama S, Machida A, Yokota T. (2021). Activation of a Cryptic Splice Site of GFAP in a Patient With Adult-Onset Alexander Disease. Neurology Genetics. 7, e626 PMCID: PMC8488758 Florian Eichler joins for a discussion a…
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Alexander Disease Research Update
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Alexander Disease Research Update - Episode #3
37:22
37:22
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37:22
Albee Messing, Berit Powers and Rachel Battaglia discuss the following recent publication: [4:11] Nagata T et al. (2021). Cholesterol-functionalized DNA/RNA heteroduplexes cross the blood-brain barrier and knock down genes in the rodent CNS. Nat Biotechnol. (in press) PMID: 34385691 [26:30] Questions from email Send your questions and feedback to: …
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Alexander Disease Research Update
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Alexander Disease Research Update - Episode #2
35:31
35:31
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35:31
Albee Messing and Amy Waldman discuss: [1:21] Cai T, Jing S, Li Y, Wu J. 2021. A Case Report of Adult-Onset Alexander Disease with a Tumor-Like Lesion in the Lateral Ventricle. Case Rep Neurol 13:355-360. PMCID: PMC8255748 [7:45} Yoshida T, Mizuta I, Yasuda R, Mizuno T. 2021. Clinical and radiological characteristics of older-adult-onset Alexander …
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Alexander Disease Research Update
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Alexander Disease Research Update - Episode #1
26:22
26:22
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26:22
Albee Messing and Michael Brenner discuss: Hunt, CK, et al. Does genetic anticipation occur in familial Alexander disease? (2021). Neurogenetics (in press) https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8241638/ https://medlineplus.gov/genetics/understanding/inheritance/anticipation/ Send your questions to: axdrupodcast@waisman.wisc.edu Help support …
