Gait Pattern in Inherited Cerebellar Ataxias

• Published in: Cerebellum (London, England) Vol. 11; no. 1; pp. 194 - 211
• Main Authors: Serrao, Mariano, Pierelli, Francesco, Ranavolo, Alberto, Draicchio, Francesco, Conte, Carmela, Don, Romildo, Di Fabio, Roberto, LeRose, Margherita, Padua, Luca, Sandrini, Giorgio, Casali, Carlo
• Format: Journal Article
• Language: English
• Published: New York Springer-Verlag 01.03.2012; Springer Nature B.V
• Subjects: Adolescent; Adult; Aged; Biomedical and Life Sciences; Biomedicine; Cerebellar Ataxia - congenital; Cerebellar Ataxia - diagnosis; Cerebellar Ataxia - physiopathology; Chronic Disease; Female; Friedreich Ataxia - diagnosis; Friedreich Ataxia - genetics; Friedreich Ataxia - physiopathology; Gait - genetics; Gait Disorders, Neurologic - congenital; Gait Disorders, Neurologic - diagnosis; Gait Disorders, Neurologic - physiopathology; Humans; Indexing in process; Male; Middle Aged; Neurobiology; Neurology; Neurosciences; Young Adult; SCA; FRDA; Inherited ataxias; Motor control; Gait analysis
• ISSN: 1473-4222; 1473-4230; 1473-4230
• DOI: 10.1007/s12311-011-0296-8

Our aim was to perform a comprehensive analysis of the global and segmental features of gait in patients with genetically confirmed inherited ataxias. Sixteen patients with autosomal dominant (spinocerebellar ataxia, SCA1 or 2) or recessive (Friedreich’s ataxia, FRDA) ataxia were studied. We used a motion analysis system to record gait kinematic and kinetic data. We measured the mean values of global (time–distance parameters, COM displacement, support moment) and segmental gait parameters (joint displacement and inter-joint coordination), as both discrete and continuous variables, and their variability and correlations with International Cooperative Ataxia Rating Scale (ICARS) scores. We found a marked difference in all global gait parameters between the ataxic patients and the controls and close correlations between longer stride and stance duration and lower gait, posture and total ICARS scores. The only difference between the two patient groups was a shorter step length in the FRDA patients. As regards the segmental features, we found a significantly different waveform shape for all continuous kinematic and kinetic measures between the ataxic patients and the healthy controls, but only minor differences for the discrete measures. Intersegmental coordination evaluated using the continuous relative phase method revealed an irregular alternating joint behaviour without clear evidence of the synchronous pattern of alternating proximal/distal joint seen in healthy subjects. For almost all gait parameters we observed a markedly higher intra-subject variability in the ataxic patients versus the controls, which was strongly related to the clinical ICARS scores. Patients with chronic, progressive inherited ataxias lose the ability to “stabilize” a walking pattern that can be repeated over time. The most peculiar aspect of the gait of inherited ataxia patients, regardless the different genetic forms, seems to be the presence of increased variability of all global and segmental parameters rather than an invariant abnormal gait pattern.