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Albee Messing and Davide Tonduti discuss the following recent publication: [00:41] Type I Alexander Disease: Update and Validation of the Clinical Evolution-Based ClassificationMolecular Genetics and Metabolism 138, 107540, 2023 [16:01] Questions from email regarding mesenchymal stem cells for transplantation and the intranasal route for delivering therapeutics to the central nervous system. Send your questions and feedback to: axdrupodcast@waisman.wisc.eduHelp support research on Alexander Disease at the University of Wisconsin-Madison's Waisman Center: https://alexander-disease.waisman.wisc.edu/donate/
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 disease.Send your questions and feedback to: axdrupodcast@waisman.wisc.eduHelp support research on Alexander Disease at the University of Wisconsin-Madison's Waisman Center: https://alexander-disease.waisman.wisc.edu/donate/
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 brainsJournal of Neuroimaging (in press)Send your questions and feedback to: axdrupodcast@waisman.wisc.edu
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 biopsies. Send your questions and feedback to: axdrupodcast@waisman.wisc.eduHelp support research on Alexander Disease at the University of Wisconsin-Madison's Waisman Center: https://alexander-disease.waisman.wisc.edu/donate/
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 – part 2Send your questions and feedback to: axdrupodcast@waisman.wisc.eduHelp support research on Alexander Disease at the University of Wisconsin-Madison's Waisman Center: https://alexander-disease.waisman.wisc.edu/donate/
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 and feedback to: axdrupodcast@waisman.wisc.eduHelp support research on Alexander Disease at the University of Wisconsin-Madison's Waisman Center: https://alexander-disease.waisman.wisc.edu/donate/
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] Kang YR et al. (2022). A novel in-frame GFAP p.E138_L148del mutation in Type II Alexander disease with atypical phenotypes. European Journal of Human Genetics (in press)[case report describing unusual variant and symptoms, podcast includes commentary on head trauma and psychiatry]Send your questions and feedback to: axdrupodcast@waisman.wisc.eduHelp support research on Alexander Disease at the University of Wisconsin-Madison's Waisman Center: https://alexander-disease.waisman.wisc.edu/donate/
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 disease. Radiology Case Reports 17, 771-774 [full text][13:48] Mura et al. (2021). Alexander disease evolution over time: data from an Italian cohort of pediatric-onset patients. Molecular Genetics and Metabolism 134, 353-358[18:17] Questions from email – how to manage constipation.Send your questions and feedback to: axdrupodcast@waisman.wisc.eduHelp support research on Alexander Disease at the University of Wisconsin-Madison's Waisman Center: https://alexander-disease.waisman.wisc.edu/donate/
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 Mosaicism Uncovers Inheritance of an Apparently De Novo GFAP Mutation. Frontiers in Genetics 12, 744068 [full text] [first convincing case of germline mosaicism in parent] [14:46] Questions from email regarding the rat-ASO publication and variability in severity in humans.[17:52] Murrray Brilliant joins to discuss how electronic health records are used in research and whether this will give us better estimates of national or world-wide numbers of people who have Alexander disease. Send your questions and feedback to: axdrupodcast@waisman.wisc.eduHelp support research on Alexander Disease at the University of Wisconsin-Madison's Waisman Center: https://alexander-disease.waisman.wisc.edu/donate/
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 therapy in a rat model of Alexander disease reverses GFAP pathology, white matter deficits, and motor impairment. Science Translational Medicine 13, eabg4711 (in press)[38:44] Heaven, M.R. et al. (2021). Metabolic enzyme alterations and astrocyte dysfunction in a murine model of Alexander disease with severe reactive gliosis. Molecular and Cellular Proteomics 100180 (in press) [full text] https://alexander-disease.waisman.wisc.edu/donate/
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.eduHelp support research on Alexander Disease at the University of Wisconsin-Madison's Waisman Center: https://alexander-disease.waisman.wisc.edu/donate/
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: PMC8488758Florian Eichler joins for a discussion about outcomes and clinical trials, prompted by:[13:09] Questions from emailSend your questions and feedback to: axdrupodcast@waisman.wisc.eduHelp support research on Alexander Disease at the University of Wisconsin-Madison's Waisman Center: https://alexander-disease.waisman.wisc.edu/donate/
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 emailSend your questions and feedback to: axdrupodcast@waisman.wisc.eduHelp support research on Alexander Disease at the University of Wisconsin-Madison's Waisman Center: https://alexander-disease.waisman.wisc.edu/donate/
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 disease. Eur J Neurol (in press)[24:40] Questions from emailSend your questions to: axdrupodcast@waisman.wisc.eduHelp support research on Alexander Disease at the University of Wisconsin-Madison's Waisman Center: https://alexander-disease.waisman.wisc.edu/donate/
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.eduHelp support research on Alexander Disease at the University of Wisconsin-Madison's Waisman Center: https://alexander-disease.waisman.wisc.edu/donate/
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