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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…
How do you accurately measure something as nuanced as coordination? For clinicians assessing ataxia, this question has driven the development of various rating scales. The Brief Ataxia Rating Scale is one of the scales developed. It is a clinical tool that assesses ataxia severity. However, it is simplified to be Read More…
La distonía es un trastorno que afecta a la forma en que una persona se mueve. Específicamente, las personas con distonía tienen contracciones musculares involuntarias, que pueden causar posturas de torsión anormales. La distonía puede afectar a los músculos de cualquier parte del cuerpo, incluida la cara, el cuello, el Read More…
BDNF stands for Brain-derived neurotrophic factor. BDNF is a protein found in the brain that belongs to the group of neurotrophic proteins. Neurotrophic means that these proteins promote the survival and growth of new neurons during brain development and the survival and function of existing neurons in the adult brain. Read More…
