Ataxia Telangiectasia Info

Loss of CD98HC phosphorylation by ATM impairs antiporter trafficking and drives glutamate toxicity in Ataxia telangiectasia pubmed.ncbi.nlm.nih.gov/40456742/

A huge THANK YOU to @HSFCharity for donating £2,000 to support our research into repurposing existing drugs for children with A-T. 💙 🔗 actionforat.org/identifying-ex… #ThankYou #ActionForAT #RareDisease #MedicalResearch

We are delighted to share details of our recent study at @ucl exploring Omaveloxolone efficacy in Ataxia-telangiectasia funded thanks to your generous support. Click on the link for more details actionforat.org/exploring-omav…

Should We Screen for Malignancies in People With Ataxia Telangiectasia? @JCO_ASCO ascopubs.org/doi/10.1200/JC…

When Ataxia-Telangiectasia doesn’t present with ataxia or telangiectasias will you be ready. A wake-up call for all clinicians. We were all taught in medical school that ataxia-telangiectasia (A-T) is a childhood disorder with cerebellar ataxia, eye and skin telangiectasias, and immunodeficiency. But what if none of those show up and instead, an adult presents with tremor, dystonia, mild bradykinesia or a movement disorder? Will you be ready to sort it out? Did you know ordering simple x-rays on these folks can increase their cancer risk? Key Points: - A compelling new case report in Movement Disorders Clinical Practice by Genovese and colleagues challenges how we traditionally think about A-T. - It describes a young woman whose dominant symptoms were tremor and dystonia (not ataxia) and she had no visible telangiectasias. - A telangiectasia is a small, widened blood vessel that appears near the surface of the skin or the white part of the eye. In simple terms, it's like a tiny red or purple thread or line that you can see even if just under the skin. - This case was diagnosed w/ genetics as A-T. Here are my 5 key takeaways: 1- A-T can present in adults. You can be fooled by tremor-predominant or dystonic syndromes w/ minimal or absent ataxia. 2- Telangiectasias may Be absent. The hallmark red flags of A-T are bulbar conjunctival or skin telangiectasias. They may never appear, especially in mild adult phenotypes. 3- α-Fetoprotein is a critical clue. A persistently elevated AFP in an adult with unexplained movement symptoms should raise suspicion for A-T or possibly a recessively inherited ataxia. 4- ATM Mutations drive a spectrum. Compound heterozygous mutations in the ATM gene can result in broad phenotypic variability, from classic childhoodonset to subtle adult presentations. 5- This is an actionable diagnosis. A-T isn’t just academic. Early diagnosis leads to cancer screening, family counseling, and may open the door to investigational therapies like nicotinamide riboside. My Take: This case reminds us to reconsider our diagnostic bias when seeing adults with unusual movement symptoms. Don’t assume tremor and dystonia in a young person is essential tremor, Wilson's disease or young-onset Parkinson’s. Ask yourself, should I check the AFP, and if high think A-T as a possibility. It's time we stop letting the name ataxia-telangiectasia blind us to the real clinical variability of this DNA repair disorder. Why avoid X-rays in A-T? People with A-T have mutations in the ATM gene, which is critical for repairing DNA damage. Ionizing radiation (like X-rays, CT scans) can cause DNA breaks. Since their cells can’t repair DNA well, radiation exposure can increase the risk of cancer in A-T patients. Avoid routine or unnecessary exposure to X-rays or other forms of ionizing radiation in patients with known or suspected A-T. Every day I practice medicine I know a little less. …mentdisorders.onlinelibrary.wiley.com/doi/10.1002/md… #MovementDisorders #AtaxiaTelangiectasia #Tremor #Dystonia #AdultNeurology #GeneticDiagnosis #ATMgene #Parkinsonism @FixelInstitute

#Cellular senescence can occur as early as the embryonic period, indicating its role in developmental programming. This type of senescence is characterized by the absence of detectable DNA damage and the lack of activation of ataxia telangiectasia mutated (ATM).

Longitudinal Analysis of Natural History Progression of Rare and Ultra‐Rare Cerebellar Ataxias Using Item Response Theory - Hamdan - Clinical Pharmacology & Therapeutics - Wiley Online Library ascpt.onlinelibrary.wiley.com/doi/10.1002/cp…

@bariskurt I think that the risks of the procedure itself and those associated with the administration of dexamethasone should be considered. The adverse effects would be related to the procedure itself.

@A_TInfo Why were adverse and serious adverse events observed at the placebo group?

Safety and efficacy of intra-erythrocyte dexamethasone sodium phosphate in children with ataxia telangiectasia (ATT… pubmed.ncbi.nlm.nih.gov/39152028/

Ataxia-telangiectasia in Latin America: clinical features, immunodeficiency, and mortality in a multicenter study pubmed.ncbi.nlm.nih.gov/38834764/

ATAXIA-telangiectasia with compound heterozygous ATM mutations discovered on abnormal newborn screen pubmed.ncbi.nlm.nih.gov/38914360/

ATM and 53BP1 regulate alternative end joining-mediated V(D)J recombination pubmed.ncbi.nlm.nih.gov/39083600/

Immune profiling and functional analysis of NK and T cells in ataxia telangiectasia pubmed.ncbi.nlm.nih.gov/39165363/

Distinct regulation of ATM signaling by DNA single-strand breaks and APE1 pubmed.ncbi.nlm.nih.gov/39112456/

MicroRNA dysregulation in ataxia telangiectasia. pubmed.ncbi.nlm.nih.gov/39224604/

Ataxia Telangiectasia patient-derived neuronal and brain organoid models reveal mitochondrial dysfunction and oxida… pubmed.ncbi.nlm.nih.gov/38876322/

Lessons from the ATTeST trial in ataxia telangiectasia pubmed.ncbi.nlm.nih.gov/39152015/

ATM germ line pathogenic variants affect outcomes in children with ataxia-telangiectasia and hematological malignan… pubmed.ncbi.nlm.nih.gov/38917355/

Impaired arterial dilation and increased NOX2 generated oxidative stress in subjects with ataxia-telangiectasia mut… pubmed.ncbi.nlm.nih.gov/39326070/

The Latest Developments for the Treatment of Ataxia Telangiectasia: A Narrative Review pubmed.ncbi.nlm.nih.gov/39327359/