Publications by authors named "Victoria Alvarez Martinez"
Article Synopsis
- Intermediate Alleles (IAs) in the HTT gene are CAG repeat expansions that range from 27 to 35 repeats; their connection to Huntington's disease (HD) is debated given the increasing reports of Huntington-like symptoms in affected individuals.
- A review of medical records for suspected HD cases with intermediate CAG repeats highlighted 14 patients who predominantly showed extrapyramidal symptoms and various cognitive and behavioral issues, with particular neuroimaging findings noted in some cases.
- The study concludes that while some clinical and imaging results resemble HD, they could also indicate other conditions, emphasizing the need for larger studies to better understand the potential link between IAs and HD.
