Journal article
Characterization of the Huntington intermediate CAG repeat expansion phenotype in PHAROS
Neurology, Vol.80(22), pp.2022-2027
05/28/2013
DOI: 10.1212/WNL.0b013e318294b304
PMCID: PMC3716408
PMID: 23624566
Abstract
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 participantsʼ gene status. UHDRS scores were compared according to the Huntingtin gene CAG repeat numberexpanded >36, intermediate 27–35, and nonexpanded controls <26.
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 groupʼs 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.
Details
- Title: Subtitle
- Characterization of the Huntington intermediate CAG repeat expansion phenotype in PHAROS
- Creators
- Annie Killoran - From the University of Rochester (A.K., K.M.B.), Rochester, NY; Robert C. Byrd Health Sciences Center (A.K.), West Virginia University, Morgantown; Baylor College of Medicine (J.J.), Houston, TX; University of Rochester Medical Center (S.E., E.K., D.O.), Rochester, NY; Massachusetts General Hospital (A.B.Y.), Boston; and Georgetown University (I.S.), Washington, DCKevin BiglanJoseph JankovicShirley EberlyElise KaysonDavid OakesAnne YoungIra Shoulson
- Resource Type
- Journal article
- Publication Details
- Neurology, Vol.80(22), pp.2022-2027
- Publisher
- American Academy of Neurology
- DOI
- 10.1212/WNL.0b013e318294b304
- PMID
- 23624566
- PMCID
- PMC3716408
- ISSN
- 0028-3878
- eISSN
- 1526-632X
- Language
- English
- Date published
- 05/28/2013
- Academic Unit
- Neurology; Psychiatry
- Record Identifier
- 9984020792602771
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