Ataxia News and Research

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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.

Study analyzes walking movements to detect nervous system disorders

Scientists from Rutgers University linked the genetic disorders Fragile X and SHANK3 deletion syndrome to walking patterns.

26 Oct 2021

Mutations in GEMIN5 protein can cause rare genetic disorders in children

Researchers have discovered a genetic cause of an unusual neurological disorder characterized by developmental delay, known as ataxia.

10 May 2021

“Expansion Hunter” approach can detect DNA errors

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.

16 Apr 2021

Cryogenic electron microscopy reveals shape of glutamate transporters involved in neurological diseases

An international research team has uncovered the shape of the glutamate transporter and helps explain how the human brain cells interact with each other.

18 Feb 2021

Researchers identify new therapeutic target for spinocerebellar ataxia

Scientists have created an animal model that simulates cerebellar neurodegeneration and motor dysfunction.

25 Sep 2020

Gene therapy overcomes cardiac effects in mouse model of Freidreich’s ataxia

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.

21 Sep 2020