This is part of a larger project that also includes trying to treat SCA3, the rare genetic disease my family suffers from, so this is super exciting
In my life I've seen treatments for AIDs developed, vaccines for Ebola and malaria, and now this. Medical science is one is the areas that still consistently seems to make these miraculous advances and I'm genuinely grateful to everyone involved.
www.bbc.co.uk/news/article...
www.bbc.co.uk/news/article...
Huntington's disease successfully treated for first time
One of the most devastating diseases finally has a treatment that can slow its progression and transform lives, tearful doctors tell BBC.
www.bbc.co.uk
September 24, 2025 at 2:28 PM
This is part of a larger project that also includes trying to treat SCA3, the rare genetic disease my family suffers from, so this is super exciting
Dudley the Dinosaur - Brush & Floss!
YouTube video by Hokey Wolf
www.youtube.com
September 19, 2026 at 8:20 PM
Polish Prime Minister Donald Tusk on Friday blamed "Russian hackers" for a cyberattack that knocked his ruling party's website offline ahead of a presidential vote this weekend.
u.afp.com/ScA3
u.afp.com/ScA3
May 16, 2025 at 3:45 PM
Polish Prime Minister Donald Tusk on Friday blamed "Russian hackers" for a cyberattack that knocked his ruling party's website offline ahead of a presidential vote this weekend.
u.afp.com/ScA3
u.afp.com/ScA3
Although it still officially has nothing to do with what’s making the Indigenous population there sick (w/ Groote Eylandt Syndrome/MJD/SCA3), Purdey’s compelling Cawtian analysis notwithstanding, the excessive manganese exposure on Groote is now being recognized as detrimental to quoll health. Hmm…
June 11, 2025 at 6:36 AM
Although it still officially has nothing to do with what’s making the Indigenous population there sick (w/ Groote Eylandt Syndrome/MJD/SCA3), Purdey’s compelling Cawtian analysis notwithstanding, the excessive manganese exposure on Groote is now being recognized as detrimental to quoll health. Hmm…
Here’s what I put together for you on Groote Eylandt Syndrome/MJD/SCA3 @maaikeverbruggen.bsky.social. Not my best work, but I think it covers enough of what it needs to. Along with the timeline I’m reposting (which contains my sources), here’s pages 1-4 (of 12) of what I wrote:
May 24, 2025 at 6:50 AM
Here’s what I put together for you on Groote Eylandt Syndrome/MJD/SCA3 @maaikeverbruggen.bsky.social. Not my best work, but I think it covers enough of what it needs to. Along with the timeline I’m reposting (which contains my sources), here’s pages 1-4 (of 12) of what I wrote:
Epilepsy is also such a fascinating border defying disease, as is schizophrenia (as you say), as well as parkinsons and Huntington's (or our own family disease, the neurodegenerative genetic condition ADCA SCA3)
August 22, 2024 at 7:06 PM
Epilepsy is also such a fascinating border defying disease, as is schizophrenia (as you say), as well as parkinsons and Huntington's (or our own family disease, the neurodegenerative genetic condition ADCA SCA3)
Allosteric modulation of ataxin-3 aggregation and potential therapeutic strategies for Machado-Joseph disease. The power of teamwork to tackle complex biological questions!
👉https://www.biorxiv.org/content/10.1101/2025.01.22.633970v1
#Neurodegeneration #SCA3 #Allostery #Aggregation #Preprint
👉https://www.biorxiv.org/content/10.1101/2025.01.22.633970v1
#Neurodegeneration #SCA3 #Allostery #Aggregation #Preprint
February 6, 2025 at 4:20 PM
Allosteric modulation of ataxin-3 aggregation and potential therapeutic strategies for Machado-Joseph disease. The power of teamwork to tackle complex biological questions!
👉https://www.biorxiv.org/content/10.1101/2025.01.22.633970v1
#Neurodegeneration #SCA3 #Allostery #Aggregation #Preprint
👉https://www.biorxiv.org/content/10.1101/2025.01.22.633970v1
#Neurodegeneration #SCA3 #Allostery #Aggregation #Preprint
She has ADCA, subtype SCA3 (spinocerebellar ataxia). Her cerebellum is mostly destroyed and she has very little control of her body left. She struggles to eat and talk and hold anything.
My sister has it too, but not yet as advanced, but my mom got way older than her family members ever did.
My sister has it too, but not yet as advanced, but my mom got way older than her family members ever did.
September 16, 2024 at 10:30 AM
She has ADCA, subtype SCA3 (spinocerebellar ataxia). Her cerebellum is mostly destroyed and she has very little control of her body left. She struggles to eat and talk and hold anything.
My sister has it too, but not yet as advanced, but my mom got way older than her family members ever did.
My sister has it too, but not yet as advanced, but my mom got way older than her family members ever did.
It's almost time for me to go to the doctor to confirm that I still have SCA3 (it's genetic) and it's getting worse (and progressive).
Always a fun time, but then I am going to go to trader joe's and buy all the junk food.
First though, I really should put on some pants.
Always a fun time, but then I am going to go to trader joe's and buy all the junk food.
First though, I really should put on some pants.
July 18, 2025 at 7:56 PM
It's almost time for me to go to the doctor to confirm that I still have SCA3 (it's genetic) and it's getting worse (and progressive).
Always a fun time, but then I am going to go to trader joe's and buy all the junk food.
First though, I really should put on some pants.
Always a fun time, but then I am going to go to trader joe's and buy all the junk food.
First though, I really should put on some pants.
During #CTGCTDays2025, the GENE H Conference – Gene Therapy covered genome editing, biosafety, and neuro-focused applications. UC/GeneT presented SCA3 strategies (allele-specific silencing & gene inactivation). Program& abstracts: ctgct.si/en/ctgct-day...
@kemijski.bsky.social
@ctgct.bsky.social
@kemijski.bsky.social
@ctgct.bsky.social
September 18, 2025 at 10:23 AM
During #CTGCTDays2025, the GENE H Conference – Gene Therapy covered genome editing, biosafety, and neuro-focused applications. UC/GeneT presented SCA3 strategies (allele-specific silencing & gene inactivation). Program& abstracts: ctgct.si/en/ctgct-day...
@kemijski.bsky.social
@ctgct.bsky.social
@kemijski.bsky.social
@ctgct.bsky.social
New Case Report online!
Spinocerebellar ataxia type 3 (SCA3) masquerading as atypical parkinsonism?
🔎The findings underscore the importance of genetic testing in atypical parkinsonism and the need for personalized deep-brain stimulation strategies in SCA3.
journals.sagepub.com/doi/full/10....
Spinocerebellar ataxia type 3 (SCA3) masquerading as atypical parkinsonism?
🔎The findings underscore the importance of genetic testing in atypical parkinsonism and the need for personalized deep-brain stimulation strategies in SCA3.
journals.sagepub.com/doi/full/10....
February 6, 2026 at 1:38 PM
New Case Report online!
Spinocerebellar ataxia type 3 (SCA3) masquerading as atypical parkinsonism?
🔎The findings underscore the importance of genetic testing in atypical parkinsonism and the need for personalized deep-brain stimulation strategies in SCA3.
journals.sagepub.com/doi/full/10....
Spinocerebellar ataxia type 3 (SCA3) masquerading as atypical parkinsonism?
🔎The findings underscore the importance of genetic testing in atypical parkinsonism and the need for personalized deep-brain stimulation strategies in SCA3.
journals.sagepub.com/doi/full/10....
Spinocerebellar ataxia type 3 (SCA3) often leads to dysarthria, yet there is limited research on how dysarthria's prevalence relates to clinical features and disease progression in SCA3.
https://on.asha.org/45yXMzS @sigperspectives.bsky.social
https://on.asha.org/45yXMzS @sigperspectives.bsky.social
Dysarthria in Spinocerebellar Ataxia Type 3: Prevalence and Disease Progression
Background: Spinocerebellar ataxia type 3 (SCA3), a common genetic disorder, results from an expanded CAG repeat in the ATXN3 gene. It often lead...
on.asha.org
August 25, 2025 at 12:18 PM
Spinocerebellar ataxia type 3 (SCA3) often leads to dysarthria, yet there is limited research on how dysarthria's prevalence relates to clinical features and disease progression in SCA3.
https://on.asha.org/45yXMzS @sigperspectives.bsky.social
https://on.asha.org/45yXMzS @sigperspectives.bsky.social
REPROCELL Seeks Approval for Stemchymal® Stem Cell Therapy in Japan#Japan#Yokohama#REPROCELL#Stemchymal®#SCA3
REPROCELL Seeks Approval for Stemchymal® Stem Cell Therapy in Japan
REPROCELL has submitted a crucial application in Japan for its regenerative medicine product, Stemchymal®, aimed at treating SCA3 and SCA6, targeting significant medical needs.
third-news.com
June 24, 2026 at 2:58 PM
REPROCELL Seeks Approval for Stemchymal® Stem Cell Therapy in Japan#Japan#Yokohama#REPROCELL#Stemchymal®#SCA3
Here’s what I’ve put together for a timeline of research into “Groote Eylandt Syndrome” (aka Machado Joseph Disease/SCA3). If it looks like I’ve missed anything important, please let me know. Thanks.
May 22, 2025 at 8:38 PM
Here’s what I’ve put together for a timeline of research into “Groote Eylandt Syndrome” (aka Machado Joseph Disease/SCA3). If it looks like I’ve missed anything important, please let me know. Thanks.
New paper out: Remote Assessment of Ataxia Severity in SCA3 Across Multiple Centers and Time Points.: Grobe-Einsler, Marcus; Maas, Vivian; Amin, Arian Taheri; et al.
Annals of Clinical and Translational Neurology Vol. 13, no. 7, p. 1370 - 1378 | Thanks for sharing #dzne #papers
Annals of Clinical and Translational Neurology Vol. 13, no. 7, p. 1370 - 1378 | Thanks for sharing #dzne #papers
Remote Assessment of Ataxia Severity in SCA3 Across Multiple Centers and Time Points.
Grobe-Einsler, Marcus; Maas, Vivian; Amin, Arian Taheri; et al.
Annals of Clinical and Translational Neurology Vol. 13, no. 7, p. 1370 - 1378
dlvr.it
July 22, 2026 at 5:41 AM
Sara Duarte-Silva was awarded an Early Career Investigator Award by the National Ataxia Foundation (NAF), in recognition of her innovative work on Spinocerebellar Ataxia Type 3 (SCA3), a currently incurable neurodegenerative disease.
May 26, 2026 at 12:41 PM
Sara Duarte-Silva was awarded an Early Career Investigator Award by the National Ataxia Foundation (NAF), in recognition of her innovative work on Spinocerebellar Ataxia Type 3 (SCA3), a currently incurable neurodegenerative disease.
Huang et al. report that in SCA3, increased perivascular space (PVS) burden in key brain regions correlates with motor impairment. PVS could be a new biomarker for monitoring the disease. Please read at: buff.ly/y4awn6C
April 16, 2025 at 11:04 AM
Huang et al. report that in SCA3, increased perivascular space (PVS) burden in key brain regions correlates with motor impairment. PVS could be a new biomarker for monitoring the disease. Please read at: buff.ly/y4awn6C
Mysterious Disease Making Patients Appear Drunk — But It's Genetic!
Machado-Joseph Disease (MJD) or SCA3 is a rare neurodegenerative disorder inherited through autosomal dominant inheritance and often mistaken for drunkenness or Parkinson's disease
Machado-Joseph Disease (MJD) or SCA3 is a rare neurodegenerative disorder inherited through autosomal dominant inheritance and often mistaken for drunkenness or Parkinson's disease
Mysterious Disease Making Patients Appear Drunk — But It's Genetic!
Machado-Joseph Disease (MJD) or SCA3 is a rare neurodegenerative disorder inherited through autosomal dominant inheritance and often mistaken for drunkenness or Parkinson's disease. Its symptoms include loss of muscle control, jerky movements, and coordination problems. The disease is caused by a ge
khatulistiwa.org
September 22, 2026 at 2:45 PM
Mysterious Disease Making Patients Appear Drunk — But It's Genetic!
Machado-Joseph Disease (MJD) or SCA3 is a rare neurodegenerative disorder inherited through autosomal dominant inheritance and often mistaken for drunkenness or Parkinson's disease
Machado-Joseph Disease (MJD) or SCA3 is a rare neurodegenerative disorder inherited through autosomal dominant inheritance and often mistaken for drunkenness or Parkinson's disease
COCEMFE propone al Gobierno la jubilación anticipada para nuevas patologías
Ha enviado informes para solicitar la ampliación de la #jubilaciónanticipada a: artritis reumatoide, ataxia de Friedrich, lupus eritematoso sistémico, paraparesia espástica familiar, encefalomielitis miálgica y ataxia SCA3.
Ha enviado informes para solicitar la ampliación de la #jubilaciónanticipada a: artritis reumatoide, ataxia de Friedrich, lupus eritematoso sistémico, paraparesia espástica familiar, encefalomielitis miálgica y ataxia SCA3.
🗞️#FAMMANews
#COCEMFE propone al Gobierno la
#jubilaciónanticipada para seis patologías
👉Toda la información: famma.org/cocemfe-prop...
#discapacidad #DiscapacidadconDerechos
#COCEMFE propone al Gobierno la
#jubilaciónanticipada para seis patologías
👉Toda la información: famma.org/cocemfe-prop...
#discapacidad #DiscapacidadconDerechos
COCEMFE propone al Gobierno la jubilación anticipada para seis patologías - Famma
La radioterapia en dosis muy bajas se está consolidando en Europa como una alternativa eficaz y no invasiva para tratar el dolor crónico en manos y muñecas. Esta técnica, aplicada con fotones en canti...
famma.org
May 8, 2026 at 9:31 AM
COCEMFE propone al Gobierno la jubilación anticipada para nuevas patologías
Ha enviado informes para solicitar la ampliación de la #jubilaciónanticipada a: artritis reumatoide, ataxia de Friedrich, lupus eritematoso sistémico, paraparesia espástica familiar, encefalomielitis miálgica y ataxia SCA3.
Ha enviado informes para solicitar la ampliación de la #jubilaciónanticipada a: artritis reumatoide, ataxia de Friedrich, lupus eritematoso sistémico, paraparesia espástica familiar, encefalomielitis miálgica y ataxia SCA3.
In this work, we explore molecular and structural insights into CLR01 binding to ataxin-3 and follow its impact from cells all the way to SCA3/MJD animal models.
This truly collaborative effort was only possible through strong interdisciplinary teamwork.
@ataxiafoundation.bsky.social @ec.europa.eu
This truly collaborative effort was only possible through strong interdisciplinary teamwork.
@ataxiafoundation.bsky.social @ec.europa.eu
November 27, 2025 at 12:05 PM
In this work, we explore molecular and structural insights into CLR01 binding to ataxin-3 and follow its impact from cells all the way to SCA3/MJD animal models.
This truly collaborative effort was only possible through strong interdisciplinary teamwork.
@ataxiafoundation.bsky.social @ec.europa.eu
This truly collaborative effort was only possible through strong interdisciplinary teamwork.
@ataxiafoundation.bsky.social @ec.europa.eu