SCAsource

News and information about Spinocerebellar Ataxia research. Written by scientists in plain language that everyone can understand.

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New clues into SCA1: RNA gets trapped inside toxic ataxin-1 clumps in brain cells, disrupting the production of proteins and contributing to disease. https://t.co/vUvEPspuoX

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¿Te sientes cansado(a)? No estás solo(a). La fatiga es un síntoma común de las ataxias espinocerebelosas y afecta la calidad de vida. https://t.co/MlL3mX2pAg

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A silent mutation occurs when a base in the DNA sequence is changed, but this change does not alter the resulting amino acid sequence. https://t.co/KiFmrDPZ8K

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When we do not have enough information to know whether a genetic variant is or is not associated with a given condition, the variant is considered a variant of uncertain significance (VUS). https://t.co/Qj203lStIJ

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Repurposed steroid hormone prevents cell death and motor symptoms in animal models of SCA3. https://t.co/ujRKFQ8wjb

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Small changes in the amino acid sequence of DNA can have a dramatic impact on protein structure and function. Nonsense mutations introduce premature stop codons into gene sequences. These mutations lead to the production of shortened proteins. https://t.co/rAVcbzlvYQ

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Advances in wearable technology for tracking ataxia severity combine coordination changes across different types of movement. https://t.co/bO7VdsBhiX

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Research in mice shows that a specific cell population in the cerebellum maintains balance as we age. https://t.co/hqkB8diATO

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La arreflexia, proveniente de la palabra griega “a”, que significa ausencia, es una condición médica caracterizada por la ausencia o reducción de los reflejos. https://t.co/xU5VPbqrMb

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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. https://t.co/avulzoyyCO

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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. https://t.co/znuv1p0cId

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Human Imaging data reveals worsening spinal cord damage in several Ataxias that can begin before symptoms start. https://t.co/pxksIl6m3r

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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. https://t.co/oSjPRmGFBX

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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. https://t.co/Ss0zGrvWRd

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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. https://t.co/14jHJsM8mx

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Repeat length in RFC1 Ataxia, also known as CANVAS, impacts the age of onset of symptoms, type of symptoms, and progression. https://t.co/jWxGv2SBjG

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The discovery of first links between mitochondrial dysfunction and SCA6 progression offers new insights for potential treatments. https://t.co/2A6sHWuzQD

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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

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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. https://t.co/5iGjW4bovA

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Cerebellar cognitive affective syndrome (CCAS) is a condition in which cognitive and emotional abilities are impaired due to cerebellar damage. https://t.co/kTUS4yaZFY