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 ...

Genetics

Neurodegenerative disease mechanism and potential drug identified

Two new studies of progressive, neurodegenerative diseases linked to defects in cells' mitochondria offer hope for developing a new biomarker for research and diagnostics, and a drug for treating such diseases, report researchers ...

Neuroscience

Scientists use advanced technology to better understand ataxia

According to a recent study published in JAMA Neurology, Northwestern Medicine scientists have examined more than a century of data of the genetic makeup of ataxias, a neurodegenerative disorder, to better understand the ...

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