Journal article
Unawareness of motor phenoconversion in Huntington disease
Neurology, Vol.81(13), pp.1141-1147
09/24/2013
DOI: 10.1212/WNL.0b013e3182a55f05
PMCID: PMC3795599
PMID: 23966256
Abstract
Objective: To determine whether Huntington disease (HD) mutation carriers have motor symptoms (complaints) when definite motor onset (motor phenoconversion) is diagnosed and document differences between the groups with and without unawareness of motor signs.
Methods: We analyzed data from 550 HD mutation carriers participating in the multicenter PREDICT-HD Study followed through the HD prodrome. Data analysis included demographics, the Unified Huntington's Disease Rating Scale (UHDRS) and the Participant HD History of symptoms, self-report of progression, and cognitive, behavioral, and imaging measures. Unawareness was identified when no motor symptoms were self-reported but when definite motor HD was diagnosed.
Results: Of 38 (6.91%) with onset of motor HD, almost half (18/38 = 47.36%) had no motor symptoms despite signs of disease on the UHDRS motor rating and consistent with unawareness. A group with motor symptoms and signs was similar on a range of measures to the unaware group. Those with unawareness of HD signs reported less depression. Patients with symptoms had more striatal atrophy on imaging measures.
Conclusions: Only half of the patients with newly diagnosed motor HD had motor symptoms. Unaware patients were less likely to be depressed. Self-report of symptoms may be inaccurate in HD at the earliest stage.
Details
- Title: Subtitle
- Unawareness of motor phenoconversion in Huntington disease
- Creators
- Elizabeth A. McCusker - The University of SydneyDavid G. Gunn - The University of SydneyEric A. Epping - University of IowaClement T. Loy - Westmead Hosp, Dept Neurol, Sydney, NSW, AustraliaKylie Radford - Westmead Hosp, Dept Neurol, Sydney, NSW, AustraliaJane Griffith - Westmead Hosp, Dept Neurol, Sydney, NSW, AustraliaJames A. Mills - Univ Iowa, Dept Psychiat, Iowa City, IA 52242 USAJeffrey D. Long - Univ Iowa, Dept Psychiat, Iowa City, IA 52242 USAJane S. Paulsen - Univ Iowa, Dept Psychiat, Iowa City, IA 52242 USAPREDICT-HD Investigators
- Resource Type
- Journal article
- Publication Details
- Neurology, Vol.81(13), pp.1141-1147
- DOI
- 10.1212/WNL.0b013e3182a55f05
- PMID
- 23966256
- PMCID
- PMC3795599
- NLM abbreviation
- Neurology
- ISSN
- 0028-3878
- eISSN
- 1526-632X
- Publisher
- Lippincott Williams & Wilkins
- Number of pages
- 7
- Grant note
- U01NS082086 / NATIONAL INSTITUTE OF NEUROLOGICAL DISORDERS AND STROKE; United States Department of Health & Human Services; National Institutes of Health (NIH) - USA; NIH National Institute of Neurological Disorders & Stroke (NINDS) A3917 / CHDI Foundation, Inc. 2 UL1 TR000442-06 / NIH; United States Department of Health & Human Services; National Institutes of Health (NIH) - USA 5R01NS054893 / Cognitive and Functional Brain Changes in Preclinical Huntington's Disease 1U01NS082083 / Functional Connectivity in Premanifest Huntington's Disease 1U01NS082086 / 4D Shape Analysis for Modeling Spatiotemporal Change Trajectories in Huntington's National Center for Advancing Translational Sciences; United States Department of Health & Human Services; National Institutes of Health (NIH) - USA; NIH National Center for Advancing Translational Sciences (NCATS) NS040068 / NIH, National Institute of Neurological Disorders and Stroke; United States Department of Health & Human Services; National Institutes of Health (NIH) - USA; NIH National Institute of Neurological Disorders & Stroke (NINDS) 1U01NS082085 / Basal Ganglia Shape Analysis and Circuitry in Huntington's Disease UL1TR000442 / NATIONAL CENTER FOR ADVANCING TRANSLATIONAL SCIENCES; United States Department of Health & Human Services; National Institutes of Health (NIH) - USA; NIH National Center for Advancing Translational Sciences (NCATS)
- Language
- English
- Date published
- 09/24/2013
- Academic Unit
- Psychiatry; Psychological and Brain Sciences; Biostatistics
- Record Identifier
- 9984280866302771
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