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Huntington’s disease (HD) is a neurodegenerative disease inherited in an autosomal dominant manner. It is caused by an expansion of cytosine, adenine, guanine (CAG) repeats within the huntingtin (HTT) gene, which is located on chromosome 4. This pathological expansion of CAG repeats results in the production of a mutant huntingtin protein with an abnormally long polyglutamine […]

Salvatore Mazzeo, EAN 2022: Huntingtin intermediate alleles and cognitive decline

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Published Online: Jul 11th 2022

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.

 

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