Top Tweets for #CMT4J
This team of @Harvard undergrads won "Most Novel Solution" at last year's Rare Disease #Hackathon sponsored by NORD! Read about their solution for #CharcotMarieTooth patients and how YOU can join the 2025 Hackathon on March 1: https://t.co/e7sgkYmjMf
#CMT4J #Harvard #RareDiseases #RareDisease #RareDiseaseDay
CIRM’s $3.9M grant to @elpidatx is fueling preclinical studies on CMT4J, a devastating inherited disorder. Together, we aim to push the boundaries of science and deliver transformative treatments. #CMT4J #RegenerativeMedicine #CIRM
https://t.co/PTj5wvIA9e
Interesting.
A link between FIG4, CMT4J and parkinsonism was previously reported in a 2018 family case study.
#CMTresearch #CMT4J @CureCMT4J @CMT4Jdad
Young onset Parkinson's and Charcot Marie Tooth together? Possible? YES. It is called 'FIG 4' and this is the 6th case reported by Silva and colleagues and it was levodopa responsive ~50% improvement in UPDRS.
Pallidal hypointensities suggestive of iron deposition.
CT scan normal
[123I] FP-CIT SPECT bilateral presynaptic dopaminergic deficit
Hoe about the CMT? Electromyography revealed a sensory-motor polyneuropathy with distal-to-proximal gradient and some demyelinating features.
'FIG 4 is a phosphatase, functioning in a trimolecular complex with PIKFYVE (PI3P kinase) and VAC14 (scaffold protein), regulating the levels of PI(3,5)P2 in the endolysosomal membrane. VAC14 associated with NBIA (iron deposition disease). FIG 4 pathogenic variants lead to dysfunction of PI,P2.'
https://t.co/pSSuiKYRPw
![MichaelOkun's tweet photo. Young onset Parkinson's and Charcot Marie Tooth together? Possible? YES. It is called 'FIG 4' and this is the 6th case reported by Silva and colleagues and it was levodopa responsive ~50% improvement in UPDRS.
Pallidal hypointensities suggestive of iron deposition.
CT scan normal
[123I] FP-CIT SPECT bilateral presynaptic dopaminergic deficit
Hoe about the CMT? Electromyography revealed a sensory-motor polyneuropathy with distal-to-proximal gradient and some demyelinating features.
'FIG 4 is a phosphatase, functioning in a trimolecular complex with PIKFYVE (PI3P kinase) and VAC14 (scaffold protein), regulating the levels of PI(3,5)P2 in the endolysosomal membrane. VAC14 associated with NBIA (iron deposition disease). FIG 4 pathogenic variants lead to dysfunction of PI,P2.'
https://t.co/pSSuiKYRPw](https://pbs.twimg.com/media/F3pr29ia4AE5J1j.jpg)
Common Pathway Malfunction Found to Underlie CMT Subtypes 1C, 4J https://t.co/r3y51Z4Lhg #cmtnews #cmt1c #cmt4j #charcotmarietooth #charcotmarietoothnews #cmtwegotthis
Natural History Study for #CMT4J!! #Genetherapy #Clinicaltrials #CMTawareness #Healthnews #DDnewsonline #Raredisease #CMTneuropathy
@ellen @gma @mark_wahlberg @DonnieWahlberg @ChrisEvans @RobGronkowski @celtics A young girl in Massachusetts with a rare disease #CMT4J needs help raising over $100,000 by tomorrow so that @CureCMT4J can find a cure! Can you rt and donate?! #ruduffenough https://t.co/lISlOMxwKR
R U Duff Enough https://t.co/YzLu1FZaYW via #CMT4J #RUDuffEnough #WeAreMRMS @jimmyfallon @TheEllenShow @Oprah
#IMSTigers #RDuffenough for the lemon challenge to raise awareness for @CureCMT4J #RUDuffEnough to donate and try? #WeNeedAnAngelDonor #CMT4J #OneMillionActsOfGood

$260K left to reach $1 Million goal to help fund cure for #CMT4J The latest fundraising effort to help Talia Duff at 6:45p @7News #7News @CureCMT4J #RUDuffEnough https://t.co/Iufs326NkE
@ChrisEvans Please be a #SUPERHERO for #TaliaDuff, a girl from #Ipswich, Mass! She has #CMT4J, a rare genetic disorder. If we can raise $1mil by 12/31, research will be funded to find a #cure! PLEASE help us spread the message and #CureCMT4J https://t.co/lISlOMxwKR
@MCW1 A young girl, #TaliaDuff, from Ipswich, Mass, needs our help! She has #CMT4J, a rare genetic disorder. If she can raise $1mil by 12/31, research will be funded to find a cure! PLEASE help us spread the message and #CureCMT4J https://t.co/lISlOMxwKR
@Meghan_Trainor A young girl, #TaliaDuff, from Ipswich, Mass, needs our help! She has #CMT4J, a rare genetic disorder. If she can raise $1mil by 12/31, research will be funded to find a cure! PLEASE help us spread the message and #CureCMT4J https://t.co/lISlOMxwKR
@RyanGosling @scotthoying @kirstin @chrissyteigen @johnlegend @TheEllenShow please help us spread this message! In order to #CureCMT4J, $1 mil must be raised by 12/31. Help us save #TaliaDuff and many others who are affected by #CMT4J. Share this link: https://t.co/lISlOMxwKR
#RUDuffEnough our 6th grade Kennedy Tigers heard about Talia's quest for a cure and they wanted to help spread the word to help raise money to find a cure for #cmt4j Che ck out her story here https://t.co/QDOOtGvdcg
#weneedanangeldonor for Talia Duff #RUDuffEnough #CMT4j @TheEllenShow @jimmy Fallon @TonightShowTV3 @Oprah @OWNTV @GMA
#weneedanangeldonor for Talia Duff #RUDuffEnough #CMT4j @TheEllenShow @jimmy Fallon @TonightShowTV3 @Oprah @OWNTV @GMA
@ABCWorldNews @DavidMuir Never underestimate the power of generosity. A gift opens the way. #AmericaStrong #CMT4J
#RUDuffEnough to challenge @TheEllenShow @Oprah and @jimmyfallon? Please help spread Talia's story and get the #genetherapy needed to knockout #CMT4J. Join the Twitter Storm and Instagram Avalanche tomorrow 1:30pm Eastern Standard time. https://t.co/XRBkL7CirO
#CureCMT4J
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