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Characterization of the Huntington intermediate CAG repeat expansion phenotype in PHAROS

Characterization of the Huntington intermediate CAG repeat expansion phenotype in PHAROS Characterization of the Huntington intermediate CAG repeat expansion phenotype in PHAROS ABSTRACT Annie Killoran, MD Kevin M. Biglan, MD Objectives: We aimed to describe the clinical phenotype conferred by the intermediate-length Joseph Jankovic, MD huntingtin allele CAG repeat expansion in a population-based study. Shirley Eberly, MS Methods: The Prospective Huntington At Risk Observational Study (PHAROS) enrolled adults at Elise Kayson, MS risk for Huntington disease (HD). They were assessed approximately every 9 months with the Uni- David Oakes, PhD fied Huntington’s Disease Rating Scale (UHDRS) by investigators unaware of participants’ gene Anne B. Young, MD status. UHDRS scores were compared according to the Huntingtin gene CAG repeat number: Ira Shoulson, MD expanded .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 behavior- Correspondence to Dr. Killoran: ally on apathy and suicidal ideation. On 5 of the 9 other behavioral items and on total behavior, the ankilloran@hsc.wvu.edu IA group’s 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 http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Neurology Wolters Kluwer Health

Characterization of the Huntington intermediate CAG repeat expansion phenotype in PHAROS

Neurology , Volume 80 (22) – May 1, 2013

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References (30)

Copyright
© 2013 American Academy of Neurology
ISSN
0028-3878
eISSN
1526-632X
DOI
10.1212/WNL.0b013e318294b304
pmid
23624566
Publisher site
See Article on Publisher Site

Abstract

Characterization of the Huntington intermediate CAG repeat expansion phenotype in PHAROS ABSTRACT Annie Killoran, MD Kevin M. Biglan, MD Objectives: We aimed to describe the clinical phenotype conferred by the intermediate-length Joseph Jankovic, MD huntingtin allele CAG repeat expansion in a population-based study. Shirley Eberly, MS Methods: The Prospective Huntington At Risk Observational Study (PHAROS) enrolled adults at Elise Kayson, MS risk for Huntington disease (HD). They were assessed approximately every 9 months with the Uni- David Oakes, PhD fied Huntington’s Disease Rating Scale (UHDRS) by investigators unaware of participants’ gene Anne B. Young, MD status. UHDRS scores were compared according to the Huntingtin gene CAG repeat number: Ira Shoulson, MD expanded .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 behavior- Correspondence to Dr. Killoran: ally on apathy and suicidal ideation. On 5 of the 9 other behavioral items and on total behavior, the ankilloran@hsc.wvu.edu IA group’s 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

Journal

NeurologyWolters Kluwer Health

Published: May 1, 2013

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