AtaxiasARG

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A journey through genetic movement disorders caused by non-coding repeat expansions. Most of them are genetic #ataxias. A phenotype-guided targeted genetic testing strategy is proposed. @ParkinsonismD @drthiagotonholo sciencedirect.com/science/articl…

Proposed first-tier genetic testing approach for common genetic #ataxias based on regional prevalence rates. Relevant approach in underserved regions & in developed countries where health systems limit access to genetic testing …mentdisorders.onlinelibrary.wiley.com/doi/10.1002/md… @movedisorder @MDJ_Journal

A great pleasure to coauthor this work @MDJ_Journal @movedisorder. Big shoutout to Drs. Malco Rossi @AtaxiasARG and Christopher Stephen @MGHNeurology for leading the way!! #cerebellum #ataxia #CerebellarAtaxia

Unravelling the Global Tapestry of Genetic Ataxias: Epidemiology and Genetic Testing Approaches. @MDJ_Journal review of 2932 studies across 122 countries highlights key regional differences & a region-tailored testing approach for genetic #ataxias. …mentdisorders.onlinelibrary.wiley.com/doi/10.1002/md…

Just out in Cerebellum. SCA27B - a clinical diagnosis confirmed by gene testing. 90% success rate if onset >45 years, isolated downbeat nystagmus (DBN), DBN with ataxia, or dominant ataxia with episodic worsening and exacerbation by caffeine link.springer.com/10.1007/s12311…

"My ability is not defined by my disability." Check out Laura’s inspiring journey with cerebellar ataxia in Athens! 👉 Read her blog: ow.ly/o8sW50WrimE #AtaxiaAwareness #DisabledAndProud #TravelWithDisability #InvisibleDisability

In this Viewpoint article, the authors discuss the advantages of digital assessments over traditional clinical evaluations based on neurological examinations for #ataxia evaluation. @MDCP_Journal …mentdisorders.onlinelibrary.wiley.com/doi/epdf/10.10…

Expanding the clinical spectrum of RAB3A: from cerebellar ataxia to spastic paraplegia @Brain1878 academic.oup.com/brain/advance-…

Ataxias hereditarias: investigadores argentinos revelaron cuáles son los síntomas clave Por Valeria Román, @valeriaroman Medio: Infobae infobae.com/america/cienci…

Chile spotted! SCA 4 not only in Sweden, also in the south of the world in admixed population, with @ONT and @KimberleyBill10 #CARD team. Check it out “Identification of GGC Repeat Expansions in ZFHX3 among Chilean Movement Disorder Patients” …mentdisorders.onlinelibrary.wiley.com/doi/10.1002/md…

The clinical burden of #Friedreich ataxia in the United States: A retrospective claims database analysis jns-journal.com/article/S0022-…

This is the case of monozygotic twins with familial #ataxia, one of whom experienced FND-comorbidity @MDCP_Journal …mentdisorders.onlinelibrary.wiley.com/doi/10.1002/md…

Our “Ataxia Type” series is made possible thanks to the Ataxia experts who volunteer. We are grateful for their time and expertise. These webinars are a great resource to better understand Ataxia. If you missed "All About SCAR20", you can watch it now: youtu.be/KYQ052IPErQ

We have multiple open grant opportunities available right now. Explore them all and find the right fit for your research. 👉 Learn more and apply: ataxia.org/researcher-res… (2/2)

A $300,000 research grant from the MDA and FARA will fund a study on heart disease in people with Friedreich’s ataxia. buff.ly/8xnpQHR #FriedreichsAtaxia #FriedreichsAtaxiaNews #FACommunity

Columnist Jean Walsh shares her experience at the recent Boston rideATAXIA event, and the many reasons she is grateful for this life. buff.ly/FxtU4WY #FriedreichsAtaxia #FriedreichsAtaxiaNews #FACommunity

#Friedreich's ataxia-a rare, multisystem disease The approval of omaveloxolone by the FDA and EMA has been a significant pharmacological milestone; however, further research addressing the complex interorgan interactions is crucial. @TheLancetNeuro thelancet.com/journals/laneu…

Cerebellar involvement in #HIV is typically associated with opportunistic infections or neoplasia. This case illustrates that bilateral #cerebellar dysfunction can represent the first clinical manifestation of HIV infection #ataxia link.springer.com/article/10.100…

This study reveals hypothalamic atrophy in #CANVAS/#RFC1, suggesting its role in disease pathophysiology. Further research should investigate broader hypothalamic dysfunctions and clinical implications link.springer.com/article/10.100…

With the recent boom of AI, Drs. Malco Rossi and Lucas Alessandro discuss how an AI-powered virtual assistant could aid in the diagnosis of chronic ataxias. Listen here as they explain their how their system performed and what this means for the future. loom.ly/D2QA9Ro