SCAsource

Research in mice shows that a specific cell population in the cerebellum maintains balance as we age. ataxia.org/scasourceposts…

La arreflexia, proveniente de la palabra griega “a”, que significa ausencia, es una condición médica caracterizada por la ausencia o reducción de los reflejos. ataxia.org/scasourceposts…

In missense mutations, a change in one chemical base within the DNA sequence results in the substitution of one amino acid for another during protein production. Certain missense mutations cause different types of SCA. ataxia.org/scasourceposts…

What if a simple wearable device could track ataxia more accurately than clinic tests? New research shows wrist and ankle sensors may detect subtle changes in SCA and MSA-C earlier, bringing us closer to stronger clinical trials and faster treatments. ataxia.org/scasourceposts…

Human Imaging data reveals worsening spinal cord damage in several Ataxias that can begin before symptoms start. ataxia.org/scasourceposts…

Científicos caracterizan la progresión de las enfermedades SCA1, 2, 3 y 6, y descubren que los síntomas cambian más rápido en los primeros 10 años de la enfermedad. ataxia.org/scasourceposts…

FGF14 is a gene that helps nerve cells communicate and supports coordination and movement. Mutations in FGF14 can cause two different types of ataxia, SCA27A and SCA27B. ataxia.org/scasourceposts…

Una mutación "de novo" es una mutación genética que aparece por primera vez en alguien, sin haber estado presente en generaciones anteriores de su familia. ataxia.org/scasourceposts…

Repeat length in RFC1 Ataxia, also known as CANVAS, impacts the age of onset of symptoms, type of symptoms, and progression. ataxia.org/scasourceposts…

The discovery of first links between mitochondrial dysfunction and SCA6 progression offers new insights for potential treatments. ataxia.org/scasourceposts…

In Shorrock et al., the authors investigate how alternative splicing is happening in a variety of SCAs. They conclude that alternative splicing is consistent between diseases and throughout progression. This sheds light on a novel and exciting new pathway for potential treatments

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. ataxia.org/scasourceposts…

Cerebellar cognitive affective syndrome (CCAS) is a condition in which cognitive and emotional abilities are impaired due to cerebellar damage. ataxia.org/scasourceposts…

Did you know cerebellar ataxia affects how speech sounds more than how it’s understood? Learn why speech naturalness matters. ataxia.org/scasourceposts…

Mutations in the RFC1 gene cause CANVAS, Cerebellar Ataxia (CA), Neuropathy (N) and Vestibular Areflexia (VA) Syndrome (S). It is also known as RFC1-ataxia. ataxia.org/scasourceposts…

Additional proteins that interact with ATXN1 contribute to toxicity in a SCA1 mouse model. ataxia.org/scasourceposts…

Scientists have discovered that changes in the POU4F1 gene can cause a very rare hereditary childhood ataxia. A new patient registry is now open, allowing families to join a growing community and help researchers better understand this condition. ataxia.org/scasourceposts…

The Brief Ataxia Rating Scale is a clinical tool that assesses ataxia symptom severity. It is simplified to be more efficient to use in clinical and research settings. ataxia.org/scasourceposts…

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. ataxia.org/scasourceposts…

BDNF is a key protein that helps the brain’s neurons grow, connect, and survive. Low levels are linked to multiple neurodegenerative disorders. Researchers are exploring ways to boost BDNF that could open new doors for treating neurodegeneration. ataxia.org/scasourceposts…