MeSH tree: C10.597.350.090.500.530
Scientists have discovered an additional potential cause of the genetic mutations that result in rare conditions such as Huntington's disease (HD).
Aug 17, 2023
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Having a rare genetic disease is actually pretty common. Rare diseases affect approximately 1 in 10 individuals, and more than 30 million people in the U.S. have a rare disease diagnosis. What makes them rare is that these ...
Spinocerebellar ataxias are a heterogeneous group of inherited diseases associated with degeneration of the cerebellum—a region at the back of the brain that plays an essential role in motor control. Patients have gait and ...
Jun 21, 2023
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Using machine learning, researchers at the Department of Neurology at Niigata University have developed a model to predict the asymptomatic probability at each age from the current age and number of CAG repeats in carriers ...
Jun 15, 2023
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New research may have uncovered a relationship between changes in bacteria in the gut and a rare neurodegenerative disease that primarily affects people in a remote Indigenous community in the Northern Territory.
Jun 6, 2023
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New research has discovered that some patients with motor neuron disease (MND) and frontotemporal dementia (FTD) carry the same rare genetic defects that cause other neurodegenerative diseases.
May 9, 2023
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Processes in the cerebellum are involved in various diseases that affect motor learning. These can be better investigated using a new tool developed by a Bochum research group: a light-activatable protein that is coupled ...
Feb 1, 2023
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Machado-Joseph disease (MJD) is a rare neurodegenerative disease that affects muscles in the body, including those required for speech. It is prevalent in some remote First Nations communities in the Northern Territory and ...
Dec 16, 2022
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Massive, repetitive stretches of DNA in the human genome may harbor hints about the onset of a rare, inherited neurodegenerative disorder called ataxia-telangiectasia as well as other related diseases, a new Yale School of ...
Sep 6, 2022
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