Neuroscience

Speeding up genetic diagnosis of Huntington's disease

Elongated segments of DNA cause Huntington's disease and certain other disorders of the brain. Researchers funded by the SNSF have developed a method to determine the length of the mutated genes quickly and easily.

Medical research

Mutations, CRISPR, and the biology behind movement disorders

Scientists at the RIKEN Center for Brain Science (CBS) in Japan have discovered how mutations related to a group of movement disorders produce their effects. Published in Proceedings of the National Academy of Sciences, the ...

Medical research

New study reveals reversibility of genetic nervous system disease

In children and adults with Friedrich's ataxia, an inherited disease that causes damage to the nervous system, a loss of coordination typically progresses to muscle weakness and can involve vision, diabetes, and other problems ...

Medical research

Early intervention may hold key to treatment of Friedreich's ataxia

Current treatments may be administered too late to target Friedreich's ataxia effectively. New research using a slow-onset frataxin knock-in/knockout mouse model showed significantly reduced levels of mitochondrial biosynthesis ...

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Ataxia

Ataxia (from Greek α- [used as a negative prefix] + -τάξις [order], meaning "lack of order") is a neurological sign and symptom that consists of gross lack of coordination of muscle movements. Ataxia is a non-specific clinical manifestation implying dysfunction of the parts of the nervous system that coordinate movement, such as the cerebellum. Several possible causes exist for these patterns of neurological dysfunction. The term "dystaxia" is a rarely-used synonym.

The International Ataxia Awareness Day is observed on September 25 each year.

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