Characterization of the Huntington intermediate CAG repeat expansion phenotype in PHAROS
| Autor: | Kevin M. Biglan, Shirley Eberly, David Oakes, Joseph Jankovic, Anne B. Young, Elise Kayson, Annie Killoran, Ira Shoulson |
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| Rok vydání: | 2013 |
| Předmět: | |
| Zdroj: | Neurology. 80:2022-2027 |
| ISSN: | 1526-632X 0028-3878 |
| DOI: | 10.1212/wnl.0b013e318294b304 |
| Popis: | Objectives: We aimed to describe the clinical phenotype conferred by the intermediate-length huntingtin allele CAG repeat expansion in a population-based study. Methods: The Prospective Huntington At Risk Observational Study (PHAROS) enrolled adults at risk for Huntington disease (HD). They were assessed approximately every 9 months with the Unified Huntington’s Disease Rating Scale (UHDRS) by investigators unaware of participants9 gene status. UHDRS scores were compared according to the Huntingtin gene CAG repeat number: expanded >36, intermediate 27–35, and nonexpanded controls Results: Fifty (5.1%) of the 983 participants had an intermediate allele (IA). They were similar to controls on UHDRS motor, cognitive, and functional measures, but significantly worse behaviorally on apathy and suicidal ideation. On 5 of the 9 other behavioral items and on total behavior, the IA group9s scores were worse than those of controls and expanded participants, who themselves scored significantly worse than controls on 6 behavioral measures. Retention rates at 4 years were 48% for the IA group compared to 58% and 60% for the expanded and control groups. Conclusions: In a cohort at risk for HD, the IA was associated with significant behavioral abnormalities but normal motor and cognition. This behavioral phenotype may represent a prodromal stage of HD, with the potential for subsequent clinical manifestations, or be part of a distinct phenotype conferred by pathology independent of the CAG expansion length. |
| Databáze: | OpenAIRE |
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