Assessment of simple movements and progression of Huntington's disease

Abstract

Instrumental measurement of simple motion sequences reflects impairment in patients with Huntington's disease (HD). The objectives were to study the progress of symptoms of HD and tapping results in 42 patients with HD, without symptomatic drug treatment over 3 years. Assessment moments were at baseline, and at years 1, 2 and 3. Unified Huntington's Disease Rating Scale (UHDRS) total score and UHDRS arm score significantly increased. Motor test outcomes considerably worsened. Instrumental test results significantly correlated with both UHDRS scores at each assessment. Assessment of simple movement sequences is an additional simple method to follow impairment in patients with HD in addition to clinical rating. H untington's disease (HD) is a neurodegenerative, autosomal, dominantly inherited disorder, which manifests in early to middle adulthood and is associated with CAG repeat expansion in the first exon of a gene on chromosome 4. Characteristic clinical symptoms of HD are impaired cognition and behaviour, involuntary movements and bradykinesia, all of which influence initiation and execution of movement even in the early stages.1 This results in a reduced performance of instrumental motor tests, which assess simple movementsthat is, in patients with HD in comparison with healthy subjects.2 Results of this motor task are not specific, but this kind of motion assessment does not require the services of an experienced clinician. In contrast with more complex alternate finger tapping tasks, this apparatus asks for repetitive performance of simple movements.2 Results of this motor test support assessment of clinical symptoms in addition to clinical rating scales-that is, the Unified Huntington's Disease Rating Scale (UHDRS).2 3 This scale estimates behavioural, cognitive and motor dysfunction, but may have the physician's subjective impression.3 The objectives were to study the progress of symptoms in HD and tapping results in patients with HD, without symptomatic drug treatment over 3 years. Subjects and methods Patients with HDIn all, 21 female and 21 male patients with HD (mean (SD) age 48.79 (8.65) years; CAG 45.05 (2.95); age at onset of motor signs 40.74 (9.12) years; age at onset of psychiatric signs 39.1 (8.44) years) were enrolled. Patients with HD who had other medical conditions, which may affect the outcomes of the performed assessments, were excluded. DesignMolecular analysis of the CAG expansion was performed as described elsewhere. 4 We scored patients with HD with the UHDRS immediately before or after the motor test performance at each assessment moment at baseline (1), and at years 1, 2 and 3. The patients should receive no symptomatic drug treatment-that is, for involuntary movements, during the observation period. All participating doctors and technicians were blinded to each other. Unified Huntington's Disease Rating ScaleAll patients with HD were scored with the UHDRS. Suitable items (6, finger taps; 7, pronate/supinate hands; 8, luria, fisthand-palm test; 9, rigidity arms; 11, maximal dystonia...

Tapping linked to function and structure in premanifest and symptomatic Huntington disease

“…Several quantitative motor tasks, including force-transducer-based assessments, detect deficits in premanifest gene carriers. 10 These results support further exploration of quantitative tapping assessments in HD. 6 Correlations with the Unified Huntington's Disease Rating Scale-Total Motor Score (UHDRS-TMS) and its arm subscore were observed; performance deteriorated during a 3-year followup in manifest HD.…”

Postural deficits in Huntington's disease when performing motor skills involved in daily living

“…Lastly, the validity of the UDHRS has been challenged with regard to disease detection in pre-symptomatic HD patients [25], but the test correlates with performance of simple tasks [26] and speed of walking [7] in symptomatic HD. In contrast to these findings for manifest HD, correlations between performance variables for the three postural tests and UHDRS scores in the present study were not significant.…”

Hand tapping: A simple, reproducible, objective marker of motor dysfunction in Huntington’s disease

“…Finally, Saft and colleagues have recently identified a correlation between a subject's ability to tap a single target (maximum number of taps in 32 seconds) and caudate atrophy, CAG index (number of excess CAG repeats multiplied by the age of the patient) and UHDRS score [17]. Furthermore they have recently shown evidence that their test results correlate with the deterioration in UHDRS score in 42 patients followed over 3 years [3].…”

“…A small number of studies have addressed the quantitative assessment of motor phenotype in HD [3,4,7,8,15,17,20,21]. Of particular note, Garcia Ruiz and colleagues [7] found a difference between HD and control populations using the four motor tests suggested in the CAPIT [10].…”