Alexander Disease Research Update

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...

Send us Fan Mail 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 Uncov...

Send us Fan Mail 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 mod...

Send us Fan Mail 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]     ...

Send us Fan Mail 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 about outcomes and c...

Send us Fan Mail 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:   axdrupodcast@waisman....

Send us Fan Mail 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 pr...

Send us Fan Mail 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 research on Alexander Disease a...