Bill Nye is back in his lab with NAF and Biogen—breaking down the science of Friedreich Ataxia in a new video series. WATCH NOW
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…
Electromyography, or EMG, is a technique for measuring the electrical activity of skeletal muscles—the muscles that connect to bones and support movement. When our muscles contract, the tissue produces tiny electrical signals. This electrical activity results from the conduction of specialized peripheral nerves (nerves located outside of the brain or Read More…
Distonia é uma desordem que afeta a maneira como uma pessoa se move. Mais especificamente, pessoas com distonia têm contrações musculares involuntárias, que podem causar posturas anormais. A distonia pode afetar qualquer músculo do corpo, incluindo a face, pescoço, tronco e membros. O impacto da distonia pode ser muito variável Read More…
Our nervous system consists of the central and the peripheral nervous system. The brain and spinal cord are components of our central nervous system (CNS), while the peripheral nervous system consists of all other nerves that travel from the CNS to supply our face and the rest of our body. Read More…
La coordinación de movimientos finos y efectivos es esencial en las tareas diarias, como hablar o caminar. La capacidad de orquestar exitosamente estos movimientos se denomina comúnmente “coordinación motora”. Si bien los pacientes con SCA generalmente pueden iniciar los movimientos con sus cuerpos, su capacidad para ejecutarlos de manera fina Read More…
