Ataxia

A recent review showed different fluid biomarkers were involved in neurodegeneration, oxidative stress, metabolism, microRNA and novel genes in spinocerebellar ataxia type 3.

Researchers detected annual changes in patients with preataxic and early ataxic spinocerebellar ataxia in brain MRI imaging, clinical scores, gait parameters, and retinal thickness.

According to a recent announcement, Larimar Therapeutics reported that all 7 sites of the open-label extension study were activated for assessing nomlabofusp in Friedreich ataxia.

LX2006 shows safety, tolerance, and significant improvements in cardiac biomarkers in FA cardiomyopathy, progressing to higher dose cohorts.

After following patients for more than 10 years, arrhythmias were considered the most important cardiac predictor of survival, with progressive neurologic disability and diabetes mellitus identified as further major contributors.

Larimar Therapeutics anticipates interim data from the open label extension study assessing nomlabofusp in patients with Friedreich Ataxia in the fourth quarter of 2024.

A recent study recognized anti-DAGLA autoantibodies in the cerebrospinal fluid of a small group of patients, suggesting that it could be a potential biomarker for diagnosing cerebellar ataxia.

Findings from a recent study suggest that the presence of negative myoclonus may serve as a diagnostic clue for progressive myoclonus ataxia, suggesting the presence of genetic disorders.

Recent preclinical findings revealed SBT-589's potential to treat cardiomyopathy in Friedreich ataxia by targeting mitochondrial dysfunction.

Data from the phase 2 open label extension study investigating subcutaneous injections of nomlabofusp for Friedreich ataxia is expected in the fourth quarter of 2024.

In recent news, Lexeo Therapeutics' gene therapy candidate LX2006 received FDA fast track designation for patients with Friedreich ataxia cardiomyopathy.

A case study of a 52-year-old Korean woman revealed the potential of Nanopore long-read sequencing in diagnosing atypical late-onset ataxia-telangiectasia.

The research grant aims to diversify Friedreich ataxia treatments, addressing challenges in trial design and therapeutic strategies for this condition.

A recent study presented key predictors of survival in patients living with Friedreich ataxia, which led to the creation of a prognostic model for disease management.

These finding suggest that even immune cells in the brain can play a significant role in the progression of neurodegenerative diseases like FA.

A new analysis of phase 3 MOVE-FA trial presented at MDA 2024 revealed promising outcomes for vatiquinone, an oral 15-lipoxygenase inhibitor, in patients with Friedreich ataxia.

Rare Disease Day raises awareness for rare disorders, highlighting challenges, improving detection, and fostering collaboration for treatment advancements.

Caroline Just, MD, reflects on the challenges of diagnosing and treating rare neurological diseases, urging for improved education, collaboration, and research efforts.

Repetitive transcranial magnetic stimulation, a more widely used symptomatic treatment, was able to improve several outcomes for patients with cerebellar ataxia, especially at high frequencies.

A recent phase 3 trial demonstrated that N-acetyl-l-leucine significantly improved symptoms in patients with Niemann-Pick disease type C, showing promise as a potential treatment.

Omaveloxolone is an oral, once-daily medication indicated for the treatment of Friedreich’s ataxia in adults and adolescents aged 16 years and older in both the United States and the European Union.

Even after adjusting for indications for benzodiazepine administration and baseline disease severity, results showed greater patient disease worsening while on such medications, regardless of duration and dose.

In a recent case study, clinical exome sequencing exposed a heterozygous missense mutation in the ITPR1 gene where patients showed craniofacial abnormalities as well as spinocerebellar ataxia-like syndrome.

A new study reported on a small family who experienced paroxysmal ataxia as the initial manifestation of FGF14 repeat expansion, triggered by certain factors between the ages of 45 and 50.

Noninvasive brain stimulation techniques, particularly transcranial direct current stimulation (tDCS), prove safe and effective for cerebellar ataxia, enhancing motor coordination.

In a study cohort, investigators observed the frequency of FGF14 GAA repeat expansions in 17 patients, prompting the inclusion of GAA-FGF14-related disease in the differential diagnosis of ataxia related syndromes.

A recent study demonstrated the superior efficacy of a dual-task training program over traditional physical therapy in improving balance and cognitive function in pediatric patients with ataxia following medulloblastoma resection.

In a recent study, investigators characterized an exonic GGC repeat in ZFHX3 associated with spinocerebellar ataxia type 4 in the original pedigree in which linkage was characterized over 25 years ago.

A case series highlighted the significance of using multimodal imaging, such as spectral domain OCT, in detecting ocular manifestations in SCA type 7.

A recently published study showed patients with Friedreich Ataxia treated with medications that enhanced mitochondrial function demonstrated improvement in clinical outcomes and left ventricular mass index.