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Several neurodegenerative diseases are caused by unstable repeats in DNA. Molecular investigations have revealed that these expansions result in lossor gain-of-protein function and/or RNA toxicity. Typically, the number of repeats… Click to show full abstract
Several neurodegenerative diseases are caused by unstable repeats in DNA. Molecular investigations have revealed that these expansions result in lossor gain-of-protein function and/or RNA toxicity. Typically, the number of repeats influence whether or not a patient acquires a certain disease and its severity. In our investigation, we describe a patient carrying two repeat expansion mutations associated with Huntington’s disease (HD) and spinocerebellar ataxia type 8 (SCA8).
Keywords:
ataxia type;
spinocerebellar ataxia;
huntington disease;
disease;
disease spinocerebellar
Journal Title: Movement Disorders Clinical Practice
Year Published: 2017
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Journal Title: Movement Disorders Clinical Practice
Year Published: 2017
Link to full text (if available)
Share on Social Media: Sign Up to like & get
recommendations!