Tongue force analysis assesses motor phenotype in premanifest and symptomatic Huntington's disease.

Reilmann R, Bohlen S, Klopstock T, Bender A, Weindl A, Saemann P, Auer DP, Ringelstein EB, Lange HW

Research article (journal)

Abstract

Motor symptoms in Huntington's Disease (HD) are commonly assessed by the Unified Huntington's Disease Rating Scale-Total Motor Score (UHDRS-TMS). However, the UHDRS-TMS is limited by interrater variability, its categorical nature, and insensitivity in premanifest subjects. More objective and quantitative measures of motor phenotype may complement the use of the UHDRS-TMS as outcome measure and increase the power and sensitivity of clinical trials. Deficits in tongue protrusion are well acknowledged in HD and constitute a subitem of the UHDRS-TMS. We, therefore, investigated whether objective and quantitative assessment of tongue protrusion forces (TPF) provides measures that (1) correlate to the severity of motor phenotype detected in the UHDRS-TMS in symptomatic HD, (2) detect a motor phenotype in premanifest HD gene-carriers, and (3) exhibit a correlation to the genotype as assessed by a disease burden score (based on CAG-repeat length and age). Using a precalibrated force transducer, the ability of premanifest gene carriers (n = 15) and subjects with symptomatic HD (n = 20) to generate and maintain isometric TPF at three target force levels (0.25, 0.5, and 1.0 N) was assessed and compared with age-matched controls (n = 20) in a cross-sectional study. Measures of variability of TPF and tongue contact time distinguished controls, premanifest, and symptomatic HD groups and correlated to the UHDRS-TMS and disease burden score, suggesting a strong genotype-phenotype correlation. Group distinction was most reliable at the lowest target force level. We conclude that assessment of TPF may be a useful objective and quantitative marker of motor dysfunction in premanifest and symptomatic HD.

Details about the publication

JournalMovement Disorders (Mov Disord)
Volume25
Issue13
Page range2195-202
StatusPublished
Release year2010
Language in which the publication is writtenEnglish
DOI10.1002/mds.23243
KeywordsHumans; Predictive Value of Tests; Disease Progression; Huntington Disease; Middle Aged; Statistics Nonparametric; Disability Evaluation; Young Adult; Male; Adult; Female; Tongue; Phenotype; Genotype; Humans; Predictive Value of Tests; Disease Progression; Huntington Disease; Middle Aged; Statistics Nonparametric; Disability Evaluation; Young Adult; Male; Adult; Female; Tongue; Phenotype; Genotype

Authors from the University of Münster

Bohlen, Stefan
Neurology Clinic [closed]
Reilmann, Ralf
Neurology Clinic [closed]