Articles tagged with Ataxia
Researchers at St. Jude Children's Research Hospital have found a way to reactivate the frataxin gene in Friedreich's ataxia, a neurodegenerative disease, by using a specially designed chemical adaptor. The study challenges a longstanding assumption about histone modifications and offers new insights into gene regulation.
A new study by Meike van der Heijden challenges the long-held assumption that activity in easily measured cerebellar cells like Purkinje cells can reliably predict signals in deeper brain regions linked to dystonia, ataxia, and tremor. The research found no significant correlation between Purkinje cell and deep nuclei cell activity.
A University of California San Diego team is developing a first-of-its-kind stem cell-based gene therapy for Friedreich’s ataxia. The $7.4 million grant will support safety studies, manufacturing and clinical planning needed before applying to test the treatment in patients.
Researchers identified the α1D norepinephrine receptor as a key player in stress-induced motor incoordination associated with ataxias. The team showed that blocking this receptor restored normal activity of Purkinje cells, which could lead to new treatment approaches for patients with ataxia type 2.
A University of Oklahoma researcher has made a breakthrough discovery about Friedreich’s ataxia genetic defect, revealing that the sequence isn’t always uniform as previously thought. This finding could lead to changes in diagnosis and treatment, including a milder version of the disease with slower progression.
Researchers at the Broad Institute developed a gene editing approach that interrupts and stabilizes trinucleotide repeat expansions, which cause Huntington's disease and Friedreich's ataxia. The method, using base editing, prevents the repeats from growing in length, halting or slowing down disease progression.
A scoping review found associations between myositis disease activity and gluten exposure in patients with inflammatory myopathies and celiac disease. The study suggests that gluten may act as an exogenous antigen driving myositis in genetically predisposed patients.
A new study reveals that more than half of strokes causing ataxia are located outside the cerebellum but affect a specific brain network. This discovery changes our understanding of ataxia's neural mechanisms and may lead to safer treatments for patients.
A study published in The EMBO Journal reveals that PQBP3 plays a crucial role in stabilizing the nuclear membrane, which is destabilized in senescent cells and contributes to neurodegenerative disorders. PQBP3's dysfunction may lead to the degradation of Lamin B1, a protein essential for maintaining the nuclear membrane.
Scientists have identified the genetic mutation that causes SCA4, a progressive neurological disorder. The mutated gene ZFHX3 leads to impaired protein recycling in nerve cells, causing symptoms such as difficulty walking and balancing. This discovery opens the door to potential treatments for both SCA4 and another related form of ataxia.
McGill researchers have made a groundbreaking discovery about Spinocerebellar ataxia type 6, a rare and devastating neurodegenerative disease. Damaged mitochondria in the cerebellum are found to contribute to disease progression.
Researchers have discovered new genetic mechanisms related to spinocerebellar ataxia type 37, a rare neurological disorder that affects balance and movement. The study employed advanced techniques such as CRISPR/Cas9 gene editing and machine learning to uncover the disease's underlying causes.
Spinocerebellar ataxia type 6 is a rare disease that disrupts brain function and coordination. Researchers have identified endosomal dysfunction as a key contributor to the disease's progression, and found a potential treatment using the compound 7,8-DHF.
Researchers describe a groundbreaking case of bilateral TMS treatment for chronic ataxia after hemorrhagic stroke, resulting in significant improvements in walking speed and balance. The treatment showed promise as the patient regained independence in daily activities.
Scientists have discovered an additional source of genetic mutations that cause rare conditions like Huntington's disease. Expanded CAG repeat RNA can form aggregates that reduce global protein synthesis and lead to neurotoxicity.
A UCI-led study found that plant extracts can rescue function of ion channel proteins carrying mutations that cause human Episodic Ataxia. The plants contain compounds like tannic acid and gallic acid, which are able to correct function of the mutation-carrying proteins.
Researchers identified 756 patients with rare forms of spinocerebellar ataxias (SCA), revealing diverse disease manifestations and symptoms. The study highlights the importance of sequencing the genome to improve diagnosis and treatment for these previously underdiagnosed cases.
Researchers have developed a computer-assisted method to automate the assessment of speech severity in ataxia patients, achieving an 80% hit rate. The new methodology leverages artificial intelligence and could simplify procedures for determining ataxia severity, facilitating research and clinical practice.
Researchers discovered a single amino acid mutation in glutamate transporter protein causes transient loss of muscle control. The mutation affects the protein's shape and transport rate, leading to reduced glutamate transport and increased anion imbalance in neural cells.
A team of researchers has developed a new method to screen FDA-approved drugs to determine if they could be repurposed or improved to help patients with spinocerebellar ataxia type 5 (SCA5), a rare and debilitating disease. The pipeline uses cutting-edge spectroscopy to examine the interaction between mutant β-III-spectrin and actin, i...
Researchers developed a way to track rare diseases like DMD and FA using motion capture technology and AI. The approach identifies clear movement patterns, predicts future disease progression, and increases the efficiency of clinical trials.
A recent study has identified common and unique cellular processes in six neurodegenerative diseases, providing new insights into the underlying causes of these conditions. The research used machine learning analysis to compare RNA markers in whole blood samples from patients with distinct diseases, revealing eight shared themes across...
Researchers uncover abnormalities in neuronal connectivity and synaptic structure in cells lacking sacsin protein, leading to Purkinje cell death. The study expands knowledge of sacsin's functions and suggests a possible link between ARSACS and other brain disorders.
Researchers found a specific CAPRIN1 gene mutation linked to impaired protein production, leading to autism spectrum disorders, ADHD, language impairments, and muscle weakness. The study also identified similar symptoms in patients with early-onset ataxia and myasthenia.
A UC San Diego longitudinal study found that most COVID-19 long-haulers continue to suffer from neurological symptoms six months after infection, with memory impairment and decreased concentration being the most prevalent. Researchers identified a new subgroup with advanced symptoms, including tremor and difficulty balancing.
Researchers found a mutation in ELOVL4 enzyme impairs communication between neurons, leading to impaired motor control and coordination. The study provides new insights into the essential role of ELOVL4 in motor function and synaptic plasticity, suggesting potential therapeutic strategies for patients with spinocerebellar ataxia.
Researchers at Radboud University Medical Center have developed a new way to detect hidden genetic defects using the Expansion Hunter method. This technique can identify repeat expansions, a type of mutation that causes fragile X syndrome and Huntington's disease, in patients with movement disorders.
Research from CUHK reveals the counteracting relationship between Prpf19 and Exoc7, two crucial proteins in nerve cells. The study found that potentiating Prpf19's function degrades toxic SCA3-polyQ protein, alleviating neurodegeneration.
A combination of deep brain stimulation and exercise has potential benefits for treating ataxia by rescuing limb coordination and stepping. The study reports that stimulating mice with early-stage ataxia showed the most dramatic improvements, suggesting that early treatment may provide the biggest benefit for patients.
The Critical Path to Therapeutics for the Ataxias (CPTA) Consortium aims to optimize clinical trials for inherited ataxias through a public-private partnership. CPTA will create a neutral space for stakeholders to share expertise and data, leveraging this input to guide the development of actionable solutions.
A Kumamoto University research team created an animal model of SCA by inhibiting chaperone-mediated autophagy in cerebellar neurons, leading to progressive motor dysfunction and neurodegeneration. Reduced CMA activity may be a common molecular mechanism for the disease.
Researchers are developing an AI tool to analyze brain MRIs and identify indexes of structural complexity, providing insights into the development and progression of hereditary ataxia. The fractal dimension analysis could potentially predict clinical development and inform new treatment approaches.
A European research alliance studied 252 adults at risk of spinocerebellar ataxia, tracking the development of symptoms over several years. The study provides valuable data for prevention studies and highlights the need for additional biomarkers to detect ataxia early.
Researchers at the University of Bristol have identified a novel protein pathway in several human neurodegenerative diseases, including Huntington's disease. Abnormal expression of SAFB1 was found to be associated with spinocerebellar ataxias and polyglutamine expansion, offering new potential diagnostic markers and therapeutic targets.
Research suggests exercise can slow progression of the debilitating genetic disease by promoting mitochondrial function and reducing oxidative stress in mouse models.
A natural amino acid called arginine has been identified as a potential new treatment for polyglutamine diseases. The study found that arginine improved neurological symptoms in mice with polyQ diseases before and after symptom onset, suggesting its therapeutic potential.
Scientists have identified a molecular mechanism that could reverse the genetic defect responsible for Friedreich's ataxia by enhancing a natural process that contracts repetitive DNA sequences in living tissue. This contraction occurs during DNA replication and is triggered by the formation of an unusual triple-helical DNA structure.
Scientists discovered how mutations in the IP3R1 protein contribute to degenerative movements disorders like spinocerebellar ataxias. By disrupting calcium release, these mutations impair motor control and lead to cerebellum dysfunction.
A protein called Staufen1 accumulates in cells of patients with degenerative ataxia or amyotrophic lateral sclerosis (ALS), suggesting a potential therapeutic target. Depleting Staufen1 from affected mice improved symptoms, revealing a novel avenue for treating neurodegenerative diseases.
Researchers found that transcranial direct current stimulation (tDCS) improved symptoms of neurodegenerative ataxias in patients. The treatment showed significant improvements in walking speed, hand and arm coordination, and overall test scores.
University of Michigan researchers have made a breakthrough in treating Spinocerebellar ataxia type 3 (SCA3) using gene silencing technology. They successfully reduced mutant RNA levels without toxic effects, offering hope for disease-slowing therapy.
Researchers found statins increased ApoA-I levels in patients with Friedreich's ataxia, potentially reducing cardiovascular risk. The study suggests a possible treatment for the disease, which is associated with low HDL and apolipoprotein A-I levels.
Houston Methodist is leading an international research effort for spinocerebellar ataxia (SCA), a rare inherited neurodegenerative disorder. The $6 million, five-year study aims to bring promising investigational therapies to patients with SCA1 and SCA3.
Researchers identify 15 patients with mutations in the PUMILIO1 gene, revealing a link between protein regulator levels and disease severity. The study suggests that identifying protein regulators could single out new candidates for disease-causing genes and open new avenues for novel therapeutic strategies.
A study by Tokyo Medical and Dental University found that protein YAP rescued SCA1 pathology when expressed during development, but not as an adult. The researchers also discovered a link between YAP and the transcriptional co-activator RORα, which plays a crucial role in cerebellum development.
Researchers developed a mouse model where the FXN gene defect causing Friedreich’s ataxia can be turned on or off, revealing that many early symptoms are reversible. The study found that reducing frataxin levels led to symptoms similar to those seen in humans with the disease, which disappeared when frataxin levels returned to normal.
Scientists at UW-Madison create novel molecular treatment for Friedreich's ataxia, a rare genetic disorder caused by DNA repeats. The 'molecular prosthesis' helps cellular machinery overcome the blockade posed by repeats, restoring expression of the frataxin protein.
Researchers found early mitochondrial biogenesis deficits in individuals with Friedreich's ataxia, suggesting a potential biomarker and therapeutic target. Early intervention may prove crucial to successful therapy for this rare genetic disorder.
New studies offer hope for developing a biomarker for research and diagnostics, and a drug for treating progressive neurodegenerative diseases linked to mitochondrial defects. The findings suggest that dimethyl fumarate may increase mitochondria production and lessen the symptoms of muscle diseases caused by mitochondrial abnormalities.
Scientists develop a targeted therapy that slows disease progression in mice with ataxia and ALS, suggesting potential benefits for humans. The treatment targets the ataxin-2 gene, which may also be important for maintaining brain cell health.
A recent study found that disabling the Golgi apparatus, a protein regulation part in brain cells, causes developmental delay, severe ataxia, and postnatal death in mice. This suggests a potential link to neurodegenerative diseases such as Alzheimer's and Parkinson's.
Researchers analyzed over 150 years of genetic data to gain insight into the genetic diversity of ataxias, a neurodegenerative disorder affecting movement and balance. The study sheds light on cellular pathways and protein networks in ataxia, potentially leading to new diagnostic and treatment options.
Researchers have identified a way to allow normal frataxin production to resume in individuals with Friedreich's ataxia, a neurological disease for which there is currently no cure. The synthetic DNA or RNA prevents the mutant sequence from bending back and blocking the frataxin gene.
Researchers discovered a rare genetic mutation in Turkish children with ataxia, which caused a significant impact on the brain's autophagy process. This finding has important implications for understanding and treating neurological disorders, such as ataxia and developmental delays.
A study of GRID2 gene mutations in spinocerebellar ataxia patients reveals no point mutations or insertion/deletion mutations. Instead, polymorphic deletions and single nucleotide variations were identified, with similar frequencies in patients and controls.
Researchers from the University of Copenhagen found significant disagreement among experts about the severity of horse incoordination, also known as ataxia. The study aimed to establish clearer definitions for normal and abnormal gait patterns in horses, which could lead to greater agreement among specialists.
A gene therapy approach using adeno-associated virus (AAV) successfully treated heart disease in mice with Friedreich's ataxia, restoring full functionality to the hearts. The treatment, which introduced a normal copy of the FXN gene, prevented the development of heart disease and even fully cured advanced-stage cases.
A study found a link between a mutation in the RAB24 gene and canine hereditary ataxia, a neurodegenerative disease affecting dogs. The findings may help understand neurodegenerative diseases and identify new treatments for both canine and human sufferers.
A collaborative effort between the GENEFA Platform and FARA has secured $100,000 in annual funding for a two-year research project to develop a gene therapy-based treatment for Friedreich's ataxia. The project aims to rescue a mutated frataxin gene defect in cells of the central nervous system.
Researchers found that reducing ataxin-1 protein levels by 20% can significantly delay onset of spinocerebellar ataxia 1 (SCA1) symptoms. A molecular pathway modulated to reduce toxic protein levels may provide a therapeutic approach for this devastating inherited condition.