🔥The 9th Round of Easy Loan, Earn $40 Reward is in progress❗️ ⏰ Promotion Period: January 15th - Feburary 15th, 2025 👉 Register now and check more details at gate.io/campaigns/358

Did you miss 2024 APBD Scientific & Community Conference? No worries! You can now catch sessions on YouTube channel @APBDResearchFoundation

Via NEJM: Most patients with early cerebral adrenoleukodystrophy who underwent lentiviral gene therapy had no major functional disabilities several years after treatment: bit.ly/480ZSrL #NeuroTwitter American Academy of Neurology

looking forward to tomorrow!!

lab meeting, oligodendrocytoween style

Excited to disseminate this fun discussion with Dr Abbatemarco about how to approach the workup of genetic leukoencephalopathy and hereditary spastic paraplegia University of Pennsylvania Neurology

Neurology Podcast: Drs. Justin Abbatemarco & Jenn Orthmann Murphy discuss genetic leukodystrophies, the increasing recognition of these disorders in adult neurology, the importance of genetic testing, and the evolving treatment landscape. Listen now: bit.ly/4hSqIqH

part 2 of the podcast!

Congratulations to Hannah Loo, the first Orthmann-Murphy lab graduate, on her defense and paper submission!

excited to share our clinical experience diagnosing a rare adult onset inherited disorder - hopefully this should increase awareness and decrease time to diagnosis APBD Research Foundation

President Trump just shut down external communications, hiring, and other agency functions at NIH—a devastating blow to their lifesaving medical research. I'm leading the call with Sen. Senator Chris Van Hollen and Senator Angela Alsobrooks to restore full operations at NIH and across HHS now.

We had a beautiful day for the 2025 Philly #WalkMS. Team #Gliadelphia (University of Pennsylvania Neurology MS Division, Penn NGG ) worked together to fundraise for our friends, family, and patients Penn Medicine. Joseph Gallegos Rohini Samudralwar, MD Eileen Peach French, RN, PhD Visish M. Srinivasan, MD

Gong, Jenn Orthmann Murphy, Abrams et al. present two novel, disease-causing genetic variants of #connexin 47. In vitro assays and MD simulations reveal unique mechanisms that relate connexin 47 mutations to severities of Pelizaeus–Merzbacher-like disease 1. hubs.la/Q03rtFRz0

Practical Approach to Longitudinal Neurologic Care of Adults With X-Linked Adrenoleukodystrophy and Adrenomyeloneuropathy neurology.org/doi/10.1212/NX…

🧵1/ Excited to share my first publication from the ColonnaLab in Nature Immunology! We investigated how mutations in the human CSF1R gene disrupt microglia and impair white matter integrity in a rare but devastating neurodegeneration called ALSP. nature.com/articles/s4159…

5/ Among oligodendrocytes, we observed a reduction in mature, myelinating cells, alongside a striking expansion of a unique subset - NRP2⁺ Oligo4 - in ALSP brains. These cells showed stress- and apoptosis-related signatures, with elevated expression of IL6R, STAT3 and FGFR1.

9/ 🌎 This project wouldn’t have been possible without the collaborative efforts. Deep thanks to our wonderful collaborators - Dr. Caroline Bergner (Universitätsklinikum Leipzig), Dr. Akiyoshi Kakita (Brain Research Institute, Niigata Univ), and Dr. Jennifer Orthmann-Murphy Jenn Orthmann Murphy (University of Pennsylvania Neurology) - for