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 Christina PengEdited by Larissa Nitschke, PhD Ever since the CAG expansion of the Ataxin-1 (ATXN1) gene has been identified as the cause of spinocerebellar ataxia type 1 (SCA1), researchers have been on the hunt for the mechanism of the disease. How does this mutation cause SCA1? So far, Read More…
Written by Marija Cvetanovic, PhDEdited by Spyros Petrakis, PhD Researchers from Yale provide evidence that glial cells, in particular Bergmann glia in the cerebellum, may contribute to disease pathogenesis in SCA1. The human brain contains approximately 170 billion cells. However, approximately half of them (86 billion cells) are not neurons. Read More…
Written by Alexandra Putka Edited by Dr Hannah K Shorrock Scientists characterize SCA1, 2, 3, & 6 disease progression, finding that symptoms change most rapidly in the first 10 years of the disease. Designing clinical trials for rare diseases such as spinocerebellar ataxias (SCAs) requires us to know the timeline Read More…
Escrito por Dr. Gülin ÖzEditado por Dr. Celeste SuartTraduzido por Ana Carolina Martins A ressonância magnética (RM) detecta alterações cerebrais antes dos sintomas de ataxia. A lista de empresas farmacêuticas que direcionaram a sua atenção para as ataxias tem aumentado ao longo da última década. Isto se deve ao promissor Read More…
Written by Tala Ortiz Edited by Dr. Larissa Nitschke Repeat-associated non-AUG (RAN) translation in CAG repeat expansion diseases is toxic to cells and causes them to die. The Jain group found that RAN proteins and expanded RNA can be found in the same location in cells and interfere with essential Read More…
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…
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. 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…
Written by Alexandra Putka Edited by Dr. Larissa Nitschke Profound gene changes in non-neuronal cells are revealed by a recent study in SCA1. The two major cell types of the brain are neurons and glia, yet you have probably heard little about glia, which outnumber neurons. The word glia comes Read More…
Drosophila melanogaster is the scientific name of the common fruit fly. Yes, the ones flying around your green bin on a hot summer day. You may be surprised to learn that it is a commonly used model organism in biomedical research and has made significant contributions to many fields of Read More…
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