The Ataxia Community Comes Together in Orlando April 9–11, 2026 for the Annual Ataxia Conference! LEARN MORE
FGF14 or fibroblast growth factor 14 is an essential protein found predominantly in the brain, specifically in Purkinje cells. These brain cells are responsible for maintaining everyday functions such as learning and coordinating movement. FGF14 is critical for both allowing the brain to undergo healthy development and maintaining its function Read More…
Para que nuestro cuerpo funcione de manera saludable, es necesario llevar a cabo muchos procesos celulares esenciales regulados por moléculas creadas en nuestro interior. Esta molécula base es llamada ADN, la cual actúa como un manual de instrucciones al llevar toda la información genética de nuestro cuerpo. El genoma de Read More…
Written by Yujia Li Edited by Priscila Pereira Sena The discovery of first links between mitochondrial dysfunction and SCA6 progression offers new insights for potential treatments. What drives the progression of Spinocerebellar ataxia type 6 (SCA6)? While the exact mechanisms remain unclear, a study by Leung et al. suggests that Read More…
Written by Ross Pelzel Edited by Eder Xhako, PhD and Celeste Suart, PhD Alternative splicing produces different versions of proteins that arise from the same gene. In many neurodegenerative diseases, this process results in dysfunctional proteins that lead to disease symptoms. In Shorrock et al., the authors investigate how alternative Read More…
Cerebellar cognitive affective syndrome (CCAS) is a condition where cognitive and emotional abilities are affected due to cerebellar damage. Historically, the cerebellum was identified as the part of the brain involved in movement and balance, however, CCAS discovery has significantly extended its role in cognition and emotional regulation. The cerebellar Read More…
Written by Allison Hilger, PhD, CCC-SLP Edited by Celeste Suart, PhD Did you know cerebellar ataxia affects how speech sounds more than how it’s understood? Learn why speech naturalness matters. Have you ever heard someone speak in a way that sounds a bit unnatural, even if you can understand them Read More…
RFC1 is a gene that encodes for replication factor C subunit 1, a component of the protein replication factor C (RFC), which plays an important role in DNA synthesis. RFC recruits DNA polymerase, the protein that assembles the building blocks of DNA, to where the DNA needs to be made. Read More…
Written by Katerina Pliatsika Edited by Hannah K Shorrock, PhD Additional proteins which interact with ATXN1 contribute to toxicity in a SCA1 mouse model. In neurodegenerative diseases, a problematic gene and its resulting protein play a crucial role in the selective loss of brain cells. However, a fundamental question remains unanswered: Read More…
Written by: Sophia Salemi, BS Edited by: Celeste Suart, PhD Article highlight: Scientists have discovered that changes in the POU4F1 gene can cause a very rare hereditary ataxia syndrome with first symptoms beginning in childhood. A new patient registry is now open, giving families the opportunity to join a growing community Read More…
Escrito por: Asmer Aliyeva Editado por: Dr. Hannah K Shorrock Traduzido por: Priscila Pereira Sena Tratamento com Oligonucleotídeo Antisenso (ASO, do inglês Antisense Oligonucleotide) melhora a função dos neurônios de Purkinje regulada por canais de potássio, e destaca a conectividade cerebral alterada na interrupção do movimento na SCA3. Entender quais tipos celulares Read More…
