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I01 Unawareness of motor phenoconversion in huntington disease

Authors: K Radford; Eric A. Epping; Jane Griffith; Jeffrey D. Long; David G. Gunn; Elizabeth McCusker; James A. Mills; +3 Authors

I01 Unawareness of motor phenoconversion in huntington disease

Abstract

Background Unawareness of disease manifestations in neurodegenerative diseases has been defined by Flashman et al 2002 as “pathological unawareness of a neurological or functional deficit” and by Antoine et al 2004 as “the discrepancy between the patient9s self report and the report of a natural caregiver or the clinical rating of a health professional”. Affected patients may have no complaints (symptoms) in contrast with a carer9s or examiner9s observations. Unawareness of movements and impairments in cognitive, emotional and functional capacity are documented in diagnosed Huntington Disease (HD). The PREDICT-HD study of mutation carriers allows a study of unawareness in the HD prodrome to phenoconversion. Aims Determine if PREDICT-HD participants have motor complaints at the time motor phenoconversion and document differences between groups with and without awareness on cognitive, functional and behavioural measures. Methods The PREDICT-HD database cross sectional information recorded at the third annual study visit for participants was reviewed. Demographics, motor, functional, cognitive and behavioural scores were analysed. Unawareness was identified as lack of agreement between participant report of symptoms and the trained examiner9s rating of a diagnosis of unequivocal signs of HD. The groups with and without self-reported symptoms and an examiner rating of motor onset were compared on a range of cognitive, functional and behavioural measures, accounting for CAG repeat length and age. Results Of 550 participants at the third annual PREDICT—HD visit, motor phenoconversion was recorded in 38 (6.91%). Of those, 18 (47.36 %) reported that they had no motor symptoms but were given a similar motor rating to those who reported having symptoms. The groups with and without reported motor symptoms but with signs were similar on measures of executive dysfunction and motor score. Phenoconverters without symptoms reported less depression. Conclusions Poor awareness may occur in the prodromal stage and at phenoconversion to early HD or “HD onset”, as well as in later stages. Unawareness should be considered in assessment and provision of care.

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citations
This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Citations provided by BIP!
popularity
This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.
BIP!Popularity provided by BIP!
influence
This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Influence provided by BIP!
impulse
This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.
BIP!Impulse provided by BIP!
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