title: Sensitivity of spatiotemporal gait parameters in measuring disease severity in Friedreich ataxia.
abstract: Friedreich ataxia (FRDA) is an autosomal recessive disease with gait ataxia being the main source of morbidity. Mobility progressively declines, from initial symptom onset at approximately 10-15 years of age to being unable to ambulate 10-15 years later. Here, we sought to investigate the relationship between spatiotemporal gait parameters and clinical markers of disease severity. Thirteen people with FRDA walked along an 8.3-m GAITRite® mat six times each at their preferred fast and slow speeds. Relationships between spatiotemporal gait parameters and a range of clinical and disease characteristics were examined. Significant correlations were found between spatiotemporal gait characteristics at each of the walking speeds and Friedreich Ataxia Rating Scale (FARS) score and disease duration. During the fast-walking condition, gait speed and cadence decreased with an increase in disease duration and the FARS score. GAA1 repeat expansion negatively correlated with double-support percentage of the gait cycle in all speed conditions demonstrating a relationship between the genetic mutation and compensatory strategies for impaired dynamic balance. In all speed conditions, there were correlations between a range of spatiotemporal gait characteristics and the timed 25-ft walk test, a well-established measure of gait mobility. These findings suggest that spatiotemporal gait parameters are a sensitive measure of gait decline in individuals with FRDA and should be considered for inclusion in intervention studies whilst participants are still ambulant.
authors.affiliation: Physiotherapy Department, Kingston Centre, Monash Health, Cheltenham, VIC, Australia.
authors.forename: Sarah C
authors.initials: SC
authors.lastname: Milne
authors.forename: Darren R
authors.initials: DR
authors.lastname: Hocking
authors.forename: Nellie
authors.initials: N
authors.lastname: Georgiou-Karistianis
authors.forename: Anna
authors.initials: A
authors.lastname: Murphy
authors.forename: Martin B
authors.initials: MB
authors.lastname: Delatycki
authors.forename: Louise A
authors.initials: LA
authors.lastname: Corben
mesh_terms: D000293:Adolescent; D000328:Adult; D001696:Biomechanical Phenomena; D042622:DNA Repeat Expansion; D005260:Female; D005621:Friedreich Ataxia / Q000175:diagnosis* / Q000235:genetics / Q000503:physiopathology*; D005684:Gait / Q000502:physiology*; D006801:Humans; D033862:Iron-Binding Proteins / Q000235:genetics / Q000378:metabolism; D008297:Male; D008875:Middle Aged; D012680:Sensitivity and Specificity; D012720:Severity of Illness Index; D016138:Walking / Q000502:physiology*; D055815:Young Adult; D000096923:Frataxin
chemical_list: D033862:Iron-Binding Proteins; D000096923:Frataxin