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Really excited about our latest preprint, where we uncovered a neuroprotective role for neuronal polyunsaturated fatty acids in FTD and ALS. Led by Ashling Giblin and Alex Cammack biorxiv.org/cgi/content/sh… 1/9

The era of commercial #blood tests for #Alzheimer disease is near. We evaluate the ALZpath #pTau217 blood test in 3 independent cohorts🇺🇸🇨🇦🇪🇸 ➡️ Consistent high acc. for amyloid & tau (>0.95) ➡️ Reproducible cut-offs ➡️ ~80% reduction in adv. testing jamanetwork.com/journals/jaman…

TDP-43 loss causes mis-splicing in ALS/FTD. We now show it also induces widespread cryptic 3'UTRs. This increases RNA stability, translation and function of ELK1 and other TFs. Also provides novel targets for biomarker and therapeutics development. biorxiv.org/content/10.110…

Study identifies a fluid biomarker of TDP-43 dysfunction, a central pathological feature of the #ALS-FTD disease spectrum, and demonstrates that such loss of TDP-43 splicing repression occurs presymptomatically Johns Hopkins Pathology, Hopkins Neuroscience Katherine Irwin nature.com/articles/s4159…

EU Medicines Agency has just approved Tofersen for the treatment of #SOD1 #ALS #MND. Thank you Steph Fradette for steering this through. Announcement from Biogen here: investors.biogen.com/news-releases/… MND Association My Name'5 Doddie Foundation MND Scotland ENC ALS EndTheLegacy UK MND Research Institute King's MND Centre

🔥🚨Targetals funded TDP-43 RNA aptamer published🚨🔥 Using deeply phenotyped #ALS post-mortem tissue cohorts we show nuclear TDP-43 pathology is an early event, co-incident with STMN-2 cryptic splicing, preceding cytoplasmic aggreg. & symptom onset 🧵1/6 doi.org/10.1007/s00401…

I’m delighted to share the cover of a new picture book by me and Kevin Sinfield. Try: A Picture Book About Friendship tells the story of a friendship between two young boys named Rob and Kev💙 Written with Emma Adams and illustrated by Ben Whitehouse Ben Whitehouse. 50p from the

On my birthday this year Joe Biden signed a proclamation declaring May 5-12 a week of observance of the Days of Remembrance of the Victims of the Holocaust. whitehouse.gov/briefing-room/… Thus, in remembrance of the victims & survivors of the Holocaust, a 🧵 about the Iași pogrom: 1/

The COMMEND trial shows that Acceptance and Commitment Therapy, a psychological therapy that can be delivered remotely, improves quality of life in people with #ALS #MND thelancet.com/journals/lance…

We are deeply saddened to hear of the death of Rob Burrow CBE. The impact he had on raising awareness and supporting the fight against #MND will never be forgotten. Our thoughts are with his friends, family and fans.

There's been amazing coverage of our new paper nature nature.com/articles/s4158… but I wanted to put together a walk-through (and make this accessible as possible). It's a bit long so get a cup of tea! The full version is open access so pls do have a read if you are interested...

I am absolutely delighted to sign for this great club & I will give everything on the pitch. I can't wait to get started. #MOT

PSEN1 mutant astrocytes show a neuroinflammatory phenotype with JAK-STAT activation

One of the victims of yesterday's massacre in Jaffa is Ionas Karussis, son of the Greek Prof. Dimitrios Karussis, the senior neurologist at Hadassah Medical Center. Dimitrios is a friend of my mother and one the world's leading authorities on multiple sclerosis. Very sad news.

NICE has made the decision to treat tofersen, a specialised genetic therapy for a small subset of people with #ALS #MND developed in the UK, as a general therapy, condemning it to fail their assessment. We must change that decision. Sign the petition: ecampaigns.mndassociation.org/page/151379/pe…

Why does ALS affect men and women differently? Our research identified 226 sex-linked DNA methylation differences, offering insights into survival, and potential for sex-specific treatments 🧬🥼🔬 Link to the preprint biorxiv.org/content/10.110…

'Human VCP mutant #ALS/#FTD #microglia display immune and #lysosomal phenotypes independently of GPNMB' Benjamin E. Clarke & Oliver J. Ziff...Rickie Patani Rickie Patani PataniLab The Francis Crick Institute UCL Queen Square Institute of Neurology bit.ly/4i3Md7T

Excited to share our new paper! 🧠 Using iPSC-microglia with VCP mutations, we uncovered immune & lysosomal dysfunction. Secretome transfer revealed JAK-STAT activation in neurons & astrocytes. Great work led by Ben Clarke & PataniLab team! 🚀…arneurodegeneration.biomedcentral.com/articles/10.11…

#Neuromuscular disease assessment using functional & clinical measurement is the topic of our April issue, curated by Medical Editors Dr Sadjadi & Dr Cashman (Christopher Cashman, MD, PhD) from Harvard Medical School. Our new issue is now live, read it today: ow.ly/alXW50VBRzS Muscular Dystrophy Association MGH Neurology

In #neuromuscular diseases, imaging outcomes enable #neurologists to monitor therapies and assess #nerve and #muscle changes. Read an article on the latest updates in neuromuscular imaging by Drs Ziff (Oliver Ziff) & Morrow at @UCL: ow.ly/azKP50VSLct UCL Queen Square Institute of Neurology American Academy of Neurology Muscular Dystrophy Association