NAF has launched a petition on Change.org calling on the FDA to prioritize treatment options for rare diseases with urgent unmet needs, including Spinocerebellar Ataxia (SCA).
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Written by Rana Abdelhalim Edited by Dr. Spyros Petrakis Early BDNF delivery improved cognitive and motor deficits while ameliorating cerebellar pathology in a SCA1 mouse model. Cognitive impairment, slurred speech, difficulty with balance and walking— these are all symptoms of spinocerebellar ataxia type 1 (SCA1). SCA1 is an inherited neurodegenerative Read More…
Speech intelligibility refers to how many words can be correctly understood by a listener. For example, if someone says the phrase, “My name is John,” and a listener hears, “My name is Tom,” then the listener correctly understood 75% of the speech. In a formal speech evaluation, the percentage of Read More…
Chorea is a neurological disorder characterized by involuntary, unusual, and abrupt movements of the body that appear to be out of control and without purpose. The word “chorea” is originated from the Greek word “choreia,” which means “dance”, accurately depicting the jerky, dance-like movements shown by people suffering from this Read More…
Mass spectrometry, also known as “mass spec”, is a very useful analytical tool that is often used in science to determine the masses of different compounds in a sample. Mass spec has a variety of applications but frequently in biological sciences. It is used to determine the identity and abundance Read More…
Written by Sophia LeungEdited by Dr Hannah K Shorrock In SCA5, the N-terminus of β‑spectrin induces toxicity and therefore a new target for therapeutics to treat SCA5. The research group led by Dr. Adam Avery explored the roles a fragment of the β‑spectrin protein, the N-terminus, plays in SCA5. They Read More…
Speech not only consists of the words we say, but how we say them. That “how” is what is called prosody: the pitch, loudness, and timing of speech. The term prosody comes from the Greek word prosōidia meaning “song” or “melody.” Therefore, prosody is often viewed as the melody of speech. Read More…
Oligodendrocytes are a type of brain cell that play a crucial role in insulating neurons to facilitate efficient transmission of electrical signals. Similar to the rubber coating on cords, oligodendrocytes wrap around axons with a cholesterol-rich myelin structure, which speeds up the transmission of electrical impulses. Each oligodendrocyte can myelinate Read More…
Written by Dr. Celeste SuartEdited by Priscila Pereira Sena An international group of researchers developed a new tool for looking at large datasets of spinocerebellar ataxia clinical information. Spinocerebellar ataxias (SCAs) are the most common form of dominantly inherited ataxia worldwide. Since SCAs are rare diseases, it can be hard Read More…
The inferior olive is a beautifully squiggly structure found in the brainstem. The brainstem connects the spinal cord to the brain and contains three major regions: the midbrain, pons, and medulla. Within the medulla, there is an inferior olivary nucleus, or inferior olive, on each side. These inferior olives are Read More…
Written by Dr. Gülin ÖzEdited by Dr. Celeste Suart Advanced Magnetic Resonance Imaging (MRI) detects brain changes before ataxia symptoms. The list of pharmaceutical companies that turned their attention to ataxias has been steadily increasing over the last decade. This is in large part thanks to exciting developments in gene Read More…
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