Evidence‐based genetic counselling implications for Huntington disease intermediate allele predictive test results

Abstract excerpt

Intermediate alleles (IAs) for Huntington disease (HD) contain 27-35 CAG repeats, a range that falls just below the disease threshold of 36 repeats. While there is no firm evidence that IAs confer the HD phenotype, they are prone to germline CAG repeat instability, particularly repeat expansion when paternally transmitted. Consequently, offspring may inherit a new mutation and develop the disease later in life....

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Genetic Neurodegenerative Diseases
• Share to Mitochondrial Function and Pathology
• Share to Neurological disorders and treatments