Ataxia

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.

A recent study revealed that tandospirone citrate exhibits more positive effects in alleviating depression/anxiety and cerebellar ataxia symptoms in patients with multiple system atrophy-cerebellar subtype compared with escitalopram oxalate.

In a recent case study of a 32-year-old man diagnosed with Friedreich ataxia, parental sample testing identified a novel intragenic deletion involving the 5'UTR upstream region and exons 1 and 2 of the FXN gene.

In a phase 3 study, patients on omaveloxolone had less physical impairment compared with patients who received placebo, as measured by the modified Friedreich Ataxia Rating Scale.

Test your neurology knowledge with NeurologyLive®'s weekly quiz series, featuring questions on a variety of clinical and historical neurology topics. This week's topic is ataxia.

Test your neurology knowledge with NeurologyLive®'s weekly quiz series, featuring questions on a variety of clinical and historical neurology topics. This week's topic is ataxia.

A recent study showed the efficacy of multicompartment diffusion measures in distinguishing patients with Friedreich ataxia from controls, emphasizing the potential for these metrics in tracking disease expression and progression.

A recently published study revealed that speech markers can have a high accuracy in distinguishing between neurodegenerative diseases and healthy speech, emphasizing the significance of speech analysis in disease assessment.

Most of the studies included highlighted the increasing level of difficulty in all exercises performed and that the transition from one kinematic protocol to the other depended on the patient’s rate of improvement.

Long-term nicotinamide riboside use in patients with ataxia telangiectasia showed safety, improved motor coordination, and eye movements, suggesting potential disease attenuation.

A study on patients with Friedreich ataxia showed that cervical spinal cord cross-sectional area is a potential biomarker for disease progression, particularly at C1 level.

Test your neurology knowledge with NeurologyLive®'s weekly quiz series, featuring questions on a variety of clinical and historical neurology topics. This week's topic is ataxias.