Journal article
Refining the diagnosis of Huntington disease: the PREDICT-HD study
Frontiers in aging neuroscience, Vol.5, pp.12-12
2013
DOI: 10.3389/fnagi.2013.00012
PMCID: PMC3613616
PMID: 23565093
Abstract
Participants with the gene expansion for Huntington disease (HD) but not yet diagnosed were evaluated annually. Unidimensional diagnosis (UD) was a motor diagnosis defined as a diagnostic confidence level (DCL) of 4 (unequivocal motor signs, ≥99% confidence) on the standardized motor exam of the Unified Huntington Disease Rating Scale (UHDRS). Multidimensional diagnosis (MD) was defined as answering yes on Question 80 (Q80) of the UHDRS, ≥99% confidence of manifest HD based on the
entire
UHDRS. Motor, cognitive, and behavioral measures of phenotype at first diagnosis were compared by t-tests between participants diagnosed via motor exam (UD) and those diagnosed via multidimensional input (MD). Cluster analysis identified clusters based on UHDRS domains.186 participants received a diagnosis of HD during a maximum of 6.4 years of follow-up. In 108 (58.1%) the diagnosis by MD and UD occurred simultaneously, while in 69 (37.1%) the diagnosis by MD occurred prior to UD. Participants who were diagnosed by MD prior to UD were less impaired on motor (12.2 ± 6.7 vs. 22.4 ± 9.3,
p
< 0.0001), and cognitive (290.7 ± 56.2 vs. 258.0 ± 53.7,
p
= 0.0002), but not behavioral measures (16.3 ± 21.2 vs. 18.6 ± 22.1,
p
= 0.49) when compared with those diagnosed simultaneously. Cluster analysis identified three clusters that represented primarily cognitively impaired, behaviorally impaired, and cognitively preserved phenotypes. A multidimensional method results in an earlier diagnosis with less motor and cognitive impairment than a motor diagnosis. Findings have implications for designing preventive trials and providing clinical care in prodromal HD.
Details
- Title: Subtitle
- Refining the diagnosis of Huntington disease: the PREDICT-HD study
- Creators
- Kevin M Biglan - Department of Neurology, University of RochesterYing Zhang - Department Biostatistics, University of IowaJeffrey D Long - Department of Psychiatry, University of IowaMichael Geschwind - Department of Neurology, University of California San FranciscoGail A Kang - Department of Neurology, University of California San FranciscoAnnie Killoran - Department of Neurology, University of RochesterWenjing Lu - Department Biostatistics, University of IowaElizabeth McCusker - Department of Neurology, Westmead HospitalJames A Mills - Department of Psychiatry, University of IowaLynn A Raymond - Division of Psychiatry, University of British ColumbiaClaudia Testa - VCU Parkinson's and Movement Disorders Center Virginia Commonwealth UniversityJoanne Wojcieszek - Department of Neurology, Indiana UniversityJane S Paulsen - Department of Psychiatry, University of IowaPREDICT-HD Investigators of the Huntington Study Group
- Contributors
- Hans J Johnson (Contributor) - University of Iowa, Electrical and Computer Engineering
- Resource Type
- Journal article
- Publication Details
- Frontiers in aging neuroscience, Vol.5, pp.12-12
- DOI
- 10.3389/fnagi.2013.00012
- PMID
- 23565093
- PMCID
- PMC3613616
- NLM abbreviation
- Front Aging Neurosci
- ISSN
- 1663-4365
- eISSN
- 1663-4365
- Publisher
- Frontiers Media S.A
- Language
- English
- Date published
- 2013
- Academic Unit
- Roy J. Carver Department of Biomedical Engineering; Neurology; Electrical and Computer Engineering; Psychiatry; Psychological and Brain Sciences; Biostatistics; The Iowa Institute for Biomedical Imaging; The Iowa Initiative for Artificial Intelligence; Iowa Informatics Initiative
- Record Identifier
- 9984020793302771
Metrics
17 Record Views