The Ataxia Community Comes Together in Orlando April 9–11, 2026 for the Annual Ataxia Conference! LEARN MORE
Our DNA (deoxyribonucleic acid) serves as a genetic blueprint for building and maintaining our tissues. This complex molecule contains the information needed to build proteins, written in a code made up of four chemical bases: adenine (A), thymine (T), cytosine (C) and guanine (G). During transcription, the DNA sequence—stored in Read 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…
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…
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…
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…
CACNA1A is a gene that contains the genetic information needed to make a transcription factor and a part of a calcium channel. The gene is mainly expressed in the brain and is pivotal to various neuronal functions such as muscle contractions, memory, learning, and gene expression. Mutations in CACNA1A has Read More…
La Comunicación Aumentativa y Alternativa (CAA) es un término general que tiene muchos significados. En pocas palabras, la CAA es toda forma de comunicación distinta del habla. En esencia, la CAA utiliza símbolos. Para que un mensaje se considere una CAA, debe representarse simbólicamente. La CAA debe significar algo más. Read More…
