Alexander Disease Research Update

Send us Fan Mail Albee Messing , Dolores Pérez-Sala , and Natasha Snider discuss the following recent publications:  Alexander disease mutations differentially sensitize glial fibrillary acidic protein (GFAP) to posttranslational modifications and network disruption by oxidants.                   Redox Biology 92:104103 (2026)   Lysosomal function, resistance to oxidative stress and repair are com...

Send us Fan Mail Albee Messing , Annette Bley , and Nadia Kokaly discuss the following recent publication:  [01:58]       Description of the Hamburg Alexander Leukodystrophy Cohort-Insights into Practical Classification and the Care Situation.  Journal of Clinical Medicine 14, 6918 (2025)   [19:00]       Comment: Peer review – please come home.  Send your questions and feedback to:  amessing@wisc....

Send us Fan Mail Albee Messing , Debra Levin , and Amy Waldman discuss the following recent publications:  [01:27]       Language Skills in Patients With Alexander Disease.  American Journal of Speech-Language Pathology 35:211-225 (2025)  [17:06]       Characterization of Clinical Phenotype to Glial Fibrillary Acidic Protein Concentrations in Alexander Disease.  Annals of Clinical and Translationa...

Send us Fan Mail Albee Messing and Amanda Nagy discuss the following recent publication:  [01:42]       Genotype-phenotype correlations of GFAP variants in type I Alexander disease subtypes Molecular Genetics & Metabolism 147, 109689 (2026) Please send questions and feedback to:  amessing@wisc.edu Help support research on Alexander Disease at the University of Wisconsin-Madison's Waisman...

Send us Fan Mail Albee Messing , Tracy Hagemann , and Abby Olsen discuss the following recent publication:  [01:45]       Growth Differentiation Factor 15 Elevation in the Central Nervous System Is Associated With Failure to Thrive in Alexander Disease Annals of Clinical and Translational Neurology (in press) [ full text ] Send your questions and feedback to:  amessing@wisc.edu Help support resear...

Send us Fan Mail Albee Messing , Mel Feany, and Natasha Snider discuss the following recent publication:  Genotype-phenotype association for 14 GFAP variants in Alexander disease.  Neurology: Genetics . 11, e200270 (2025) [ full text ]   Send your questions and feedback to:  amessing@wisc.edu Help support research on Alexander Disease at the University of Wisconsin-Madison's Waisman Center:  ...

Send us Fan Mail Albee Messing , Tracy Hagemann , and Rob Berman discuss the following recent publication:  [02:01]       GFAP mutation and astrocyte dysfunction lead to a neurodegenerative profile with impaired synaptic plasticity and cognitive deficits in a rat model of Alexander disease eNeuro (in press)  [ full text ] Send your questions and feedback to:  amessing@wisc.edu Help support researc...

Send us Fan Mail Albee Messing , Charlie Wade , and Mel Feany discuss the following recent publication:  [01:50]       Analysis of GFAP variants in UK Biobank suggests underdiagnosis or incomplete penetrance of adult-onset Alexander disease Journal of Neurology, Neurosurgery, and Psychiatry (in press)   Please send your questions and feedback to:  amessing@wisc.edu Help support research on Alexand...

Send us Fan Mail Albee Messing and Natasha Snider discuss the following recent publications:  [01:04]       Aberrant neurodevelopment in human iPS cell-derived models of Alexander disease                   Glia (2024) (in press) [16:46]       A novel GFAP frameshift variant identified in a family with optico-retinal dysplasia and vision impairment Human Molecular Genetics (2024) (in press) Send yo...

Send us Fan Mail Albee Messing’s presentation at the recent Alexander disease conference in Philadelphia, August 3, 2024.  Send your questions and feedback to:  amessing@wisc.edu Help support research on Alexander Disease at the University of Wisconsin-Madison's Waisman Center:             https://alexander-disease.waisman.wisc.edu/donate/

Send us Fan Mail Albee Messing , Amy Waldman , and Natasha Snider discuss the following recent publications:  [02:07]       A retrospective observational cohort study of the anesthetic management and outcomes of pediatric patients with Alexander disease undergoing lumbar puncture or magnetic resonance imaging                   Paediatric Anesthessia (in press)  [10:17]       Glial fibrillary acidi...

Send us Fan Mail Albee Messing , Jenny Pearson, Natasha Snider, and Amy Waldman discuss the following recent publication and the conference planned for this summer in Philadelphia:  [02:02]       Plasma concentrations of glial fibrillary acidic protein, neurofilament light, and tau in Alexander disease          Neurological Sciences (2024)  [full text ] [04:16]       Discussion about Philadelphia...

Send us Fan Mail Albee Messing and Linghai Kong discuss the following recent publication:  [01:52]       3D bioprinting of human neural tissues with functional connectivity.  Cell Stem Cell 31:260-274.e7 (2024) [ full text ] Send your questions and feedback to:  amessing@wisc.edu Help support research on Alexander Disease at the University of Wisconsin-Madison's Waisman Center:           http...

Send us Fan Mail Albee Messing , Rachel Battaglia, and Natasha Snider discuss the following publication:  [00:59]       Intermediate filament dysregulation in astrocytes in the human disease model of KLHL16 mutation in giant axonal neuropathy (GAN) Molecular Biology of the Cell (in press) [full text -  https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10846626/ ] Send your questions and feedback to:  a...

Send us Fan Mail Albee Messing , Nick Stowe , JP Yu , and Amy Waldman discuss the following recent publications:  [4:30]          Stowe NA, Singh AP, Barnett BR, Yi SY, Frautschi PC, Messing A, et al. Quantitative diffusion imaging and genotype-by-sex interactions in a rat model of Alexander disease. Magnetic Resonance in Medicine (2023) in press [15:11]        Acquisition and Loss of Developmenta...

Send us Fan Mail Albee Messing , Rachel Battaglia, and Tracy Hagemann discuss the following recent publications:  [01:45]       A defined roadmap of radial glia and astrocyte differentiation from human pluripotent stem cells                   Stem Cell Reports 18, 1701-1720 (2023) [includes new iPS cell line from an individual with Alexander disease] [ full text ] [05:39]       Isolation of Interm...

Send us Fan Mail Webinar on the strategy and preliminary results for “AAV-mediated Gene Silencing for the Treatment of Alexander Disease” presented by Drs. Guangping Gao, Jun Xie, and Dominic Gessler from the University of Massachusetts Medical School.  This version is audio only - the full video version will be made available later at a site that is not yet determined.

Send us Fan Mail Albee Messing and Davide Tonduti discuss the following recent publication:  [00:41]       Type I Alexander Disease: Update and Validation of the Clinical Evolution-Based Classification Molecular 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 t...

Send us Fan Mail 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 que...

Send us Fan Mail 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      

Send us Fan Mail 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 y...

Send us Fan Mail 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...

Send us Fan Mail 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: ...

Send us Fan Mail 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....

Send us Fan Mail 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...