Articles tagged with Ataxia
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A team of scientists has discovered that a toxic protein, FMRpolyG, is made in an abnormal way due to a gene mutation, leading to Fragile X-associated Tremor Ataxia Syndrome (FXTAS). This unusual translation process, known as RAN translation, may hold the key to better treatments for older adults with the condition.
A research team from KAIST solved the structure of Ataxin-1 and its binding partner Capicua, providing molecular details of their interaction. This discovery may lead to new therapeutic targets for treating Spinocerebella Ataxia Type 1 (SCA1) and related neurodegenerative diseases.
Friedreich's Ataxia, a rare genetic disorder, imposes significant annual costs of £11,000 to £19,000 on individuals. The study emphasizes the need for tailored resource allocation to maximize quality of life while minimizing its impact.
Scientists identify novel disorder SPARCA1 associated with severe childhood ataxia and cognitive impairment due to altered beta-III spectrin gene. The study highlights the crucial role of spectrin in brain function beyond the cerebellum.
Researchers from the University of Montreal discovered the genetic cause of hereditary spastic ataxia, a rare disease affecting coordination and movement. The VAMP1 gene mutation is responsible for the condition, which can lead to debilitating symptoms if left untreated.
Researchers have designed a compound that shows promise as a potential therapy for fragile X syndrome, a genetic condition causing mental retardation, infertility, and memory impairment. The molecule improves RNA splicing process and minimizes repeat-associated defects in cells.
A randomized controlled clinical trial found that varenicline significantly improved the walking ability of patients suffering from SCA3, a genetic disorder causing progressive difficulty with coordination. The drug was effective in improving symptoms associated with standing and walking straight.
A devastating neurodegenerative disease has been traced to defects in mitochondria, the energy-producing power plants of cells. The study found that mutations causing ARSACS are linked to mitochondrial dysfunction in neurons.
Researchers discovered that brief periods of exercise in early life increased survival rates in mice with spinocerebellar ataxia 1 (SCA1), a devastating inherited disorder. Exercise reduced levels of capicua, a protein partner of ataxin1, which improved symptoms and extended lifespan.
Researchers found that boosting VEGF levels improves muscle coordination and balance in mice with SCA1. The study suggests a potentially useful treatment for the fatal disease, which affects 1-2 people per 100,000 population.
Scientists have developed Australia's first adult induced pluripotent stem cell lines for the rare genetic disease Friedreich Ataxia, enabling the development of new treatments. The iPS cells were characterized to become specific cell types, including heart and nerve cells, which are affected by the disease.
The Scripps Research Institute scientists have found strong evidence that a DNA repair enzyme is involved in the expansion of triplet repeats in the FXN gene, leading to the silencing of the gene and the disease. The study suggests that the enzyme mistakenly identifies the repeat expansions as DNA damage and attempts to repair them.
A defective protein in spinocerebellar ataxia type 5 (SCA5) damages nerve cells by cutting the number of synaptic terminals and disrupting intracellular transportation. The study suggests that the complex containing beta-III-spectrin, dynactin, and dynein might also snag microtubules to prevent degeneration.
Researchers have discovered elevated levels of DNA damage in the cellular mitochondria and nuclei of patients with Friedreich's ataxia. The findings suggest that gene activity patterns associated with responses to DNA damage may be used as predictive biomarkers for the disease.
A Scripps Research team has identified histone deacetylase 3 as the key enzyme target for a potential Friedreich's ataxia drug. The findings could lead to treatments for related conditions like Huntington's disease and improve understanding of the disease.
A research team led by Sergei Mirkin has developed a yeast model to study the molecular mechanisms of Friedreich's ataxia, a genetic disorder caused by GAA repeat expansions. The team found that proteins facilitating smooth replication fork progression decrease repeat expansions, while those causing fork deviations increase them.
Researchers have discovered a plant model that mimics human DNA patterns, allowing for the study of genetic diseases such as Huntington's and Fragile X syndrome over multiple generations. This breakthrough could pave the way for better understanding and potential treatments for these debilitating conditions.
UT Southwestern researchers have discovered a connection between disrupted calcium metabolism in nerve cells and a fatal genetic neurological disorder called spinocerebellar ataxia 3. The study suggests that blocking excessive calcium release may alleviate symptoms, with results showing improved coordination and slowed brain atrophy in...
Researchers identify mutations in moonlighting enzyme dihydrolipoamide dehydrogenase (DLD) that contribute to the reduction of frataxin production, leading to increased severity of Friedreich's ataxia. The study suggests DLD as a potential target for therapies of this condition.
A Scripps Research Institute team developed compounds that reactivated the frataxin gene in blood cells from 13 Friedreich's ataxia patients, with one compound producing full reactivation in 100% of cells tested. The findings offer a potential therapeutic avenue for the disease, which affects 1 in 20,000 people in the US.
Researchers discovered that gene-dependent loss of precision in Purkinje cells causes hereditary movement disorder ataxia type-2. A drug called EBIO improved motor coordination in ataxic mice by activating calcium-activated potassium channels.
Researchers identify KCNC3 mutations as causative factors in neurodegenerative diseases, providing a new perspective on the role of potassium channels in human neurodegeneration. The study's findings have significant implications for the development of therapeutic targets and treatment strategies for brain disorders.
Researchers found KCNC3 gene mutations in two families, one with adult-onset ataxia and the other with childhood-onset ataxia and mild mental retardation. These findings suggest that potassium channel abnormalities may contribute to a wide variety of neurodegenerative diseases.
Researchers found SCA5 mutations in 90% of Lincoln's descendants, suggesting the past president may have had a neurological disorder. The discovery provides insight into molecular mechanisms common to SCA5 and other neurodegenerative diseases.
U of MN researchers identified the specific mutation causing Spinocerebellar ataxia type 5 (SCA5), a dominant gene disorder. The discovery enables genetic testing for patients at risk, providing improved diagnoses and insight into neurodegenerative diseases.
A genetic mutation in ataxin-1 enhances protein activity, leading to toxic levels and degeneration. The study sheds light on the mechanisms of rare diseases and their implications for more common ones.
A study by Sergei Mirkin and Maria Krasilnikova found that faulty DNA replication causes the sequence to become unstable when it exceeds 40 repeats, leading to symptoms such as muscle weakness and heart disease in neurological diseases like Friedreich's ataxia.
Scientists have discovered two mutations in the ATCAY gene, responsible for Cayman ataxia in humans and similar neurological disorders in mice. The study provides a breakthrough in understanding rare genetic diseases and may lead to diagnostic tests and treatments.
OHSU researchers have created the first animal model for episodic ataxia, a rare form of ataxia that causes patients to appear 'drunk' at times. The model helps understand and treat the disease, including how medication acetazolamide works.
A 30-year-old woman developed ataxia and nystagmus after using an herbal supplement for weight loss, leading to a diagnosis of Wernicke's Encephalopathy. The woman responded positively to daily thiamine injections, resolving her symptoms.
A new study reveals that patients with gluten sensitivity may experience neurological dysfunction without gastrointestinal symptoms. The research found antibodies against Purkinje cells and cross-reacting antibodies against gluten, suggesting a potential link between gluten consumption and brain damage.
A study found that a certain form of the SCA6 gene affects the onset and severity of spinocerebellar ataxia, a disease characterized by loss of balance and coordination. Researchers analyzed 331 patients with SCA2 from Cuba and discovered significant variation in the SCA6 gene among those with earlier and later age-onset diseases.
Scientists have identified a gene mutation on chromosome 22 that causes Spinocerebellar Ataxia Type 10 (SCA10), a neurodegenerative disorder associated with motor incoordination and epilepsy. The discovery may lead to preventative measures by identifying ways to prevent neuron death.
Researchers have localized a new gene, SCA10, associated with a rare form of inherited ataxia that also causes seizures in 20% of family members. The finding may shed light on the pathogenesis of epilepsy.
Researchers found a yeast protein similar to frataxin controls iron levels in mitochondria, leading to cell death and oxidative damage. The study suggests iron overload may be a key factor in Friedreich's ataxia, but further research is needed for treatment.