Ataxia is a neurological sign and symptom that consists of gross lack of coordination of muscle movements. Ataxia is a non-specific clinical manifestation implying disfunction of the parts of the nervous system that coordinate movement, such as the cerebellum.
New research published in Nature Metabolism discovered the pathogenic mechanism driving mitochondrial enoyl reductase protein-associated neurodegeneration (MEPAN) syndrome, a rare pediatric neurodegenerative disease.
From Aristotle's musings on the nature of time to Einstein's theory of relativity, humanity has long pondered: how do we perceive and understand time? The theory of relativity posits that time can stretch and contract, a phenomenon known as time dilation. Just as the cosmos warps time, our neural circuits can stretch and compress our subjective experience of time. As Einstein famously quipped, "Put your hand on a hot stove for a minute, and it seems like an hour. Sit with a pretty girl for an hour, and it seems like a minute".
A University of California, Irvine-led team of researchers have discovered that extracts from plants used by the Kwakwaka'wakw First Nations peoples in their traditional botanical medicine practices are able to rescue the function of ion channel proteins carrying mutations that cause human Episodic Ataxia.
We often come to an understanding of what causes a disease. We know, for example, that cancers are caused by mutations at critical locations in the genome, resulting in loss of control of cell growth.
New research from a multidisciplinary team helps to illuminate the mechanisms behind circadian rhythms, offering new hope for dealing with jet lag, insomnia and other sleep disorders.
A high-throughput single-cell single-mitochondrial genome sequencing technology known as iMiGseq has provided new insights into mutations of mitochondrial DNA (mtDNA) and offers a platform for assessing mtDNA editing strategies and genetic diagnosis of embryos prior to their implantation.
Worldwide, only a handful of patients are known to suffer from episodic ataxia type 6, a neurological disease that causes transient loss of muscle control.
The creation and movement of an essential class of molecules in human cells are now better understood according to a recent study.
While cancer therapies that target specific genes or disease pathways might prolong life span, they can also result in highly resistant tumors when tiny reservoirs of cancer cells survive therapy, develop, and spread.
A research team discovered that interruption of a circadian clock gene may be implicated in the formation of autism spectrum disorder.
The Garvan Institute of Medical Research came up with a new DNA test that helps determine a range of hard-to-diagnose neurological diseases faster.
Scientists from Rutgers University linked the genetic disorders Fragile X and SHANK3 deletion syndrome to walking patterns.
Researchers have discovered a genetic cause of an unusual neurological disorder characterized by developmental delay, known as ataxia.
Researchers from Radboud University Medical Center have successfully detected hidden genetic defects by using an existing technique on existing datasets. The team demonstrated that the “Expansion Hunter” approach can detect DNA errors that cause repeat expansion diseases, like ataxia—a movement disorder.
An international research team has uncovered the shape of the glutamate transporter and helps explain how the human brain cells interact with each other.
Scientists have created an animal model that simulates cerebellar neurodegeneration and motor dysfunction.
Gene therapy was successfully used to overcome the cardiac effects of Freidreich’s ataxia (FA) in a mouse model of the disease, as reported in the peer-reviewed journal Human Gene Therapy. Click here to read the full-text article free online through October 18, 2020.