Salvatore Mazzeo, EAN 2022: Huntingtin intermediate alleles and cognitive decline
Huntingtin (HTT) is a gene containing a key region of CAG repeats. Dr Salvatore Mazzeo (University of Florence, Florence, Italy) discusses his study on HTT alleles containing from 27 to 35 CAG repeats – termed intermediate alleles (IAs) – and the effect of these IAs on progression of cognitive impairment in patients with subjective cognitive decline.
Questions:
1. What did your research reveal about variants in the huntingtin (HTT) gene, and how these play a role in progression from ‘subjective’ to ‘mild’ cognitive decline in patients without Huntington’s disease? (0:15)
2. How can physicians apply your research in practice, and aim to improve management of people without Huntington’s disease, but with subjective cognitive decline or mild cognitive impairment? (3:22)
The abstract titled, Huntingtin intermediate alleles influence the progression from Subjective Cognitive Decline to Mild Cognitive Impairment (Abstract #OPR-031) took place at the European Academy of Neurology Congress 2022, 25–28 June 2022.
Disclosure: Salvatore Mazzeo has nothing to disclose in relation to this video interview.
Support: Interview and filming supported by Touch Medical Media. Interview conducted by Lisa Glass.
Filmed as a highlight of EAN 2022.
