Ataxia is a health condition in which the muscles fail to function in a coordinated manner, resulting in an inability to maintain posture or perform movements or actions smoothly. It should be noted that ataxia is a distinct condition from motor paralysis. Specifically, patients with ataxia have poor movement accuracy, impaired coordination between agonistic and antagonistic muscles, and increased movement variability. Ataxia may be sensory, cerebellar, or both in origin. Sensory ataxia resulting from large fiber sensory neuropathy and/or dorsal column impairment presents as reduced proprioception, reduced deep tendon reflexes, and Rombergism [1]. Cerebellar ataxia (CA) is a general term used to describe motor symptoms induced by cerebellar dysfunction. CA predominantly affects aspects of movement, including the coordination of balance, gait, speech, and limb and eye movements. Of these, gait and balance ataxia are considered crucial factors affecting daily activities and may increase the risk of falls [2–4]. Ataxic gait is characterized by decreased speed and step length along with increased step width and variability in the timing and direction of steps [5]. Multi-joint coordination patterns across the hip, knee, and ankle are abnormal in patients with CA [6]. Features of postural dysfunction in CA include increased body sway and base width during standing or walking, which may be related to impaired predictive postural adjustments and disrupted coordination between the head, trunk, and legs, known as asynergia [6]. There exists a relationship between the specific body part affected by ataxia and the site of the cerebellar lesion. Ataxia of the limbs is linked to lesions of the anterior cerebellar hemispheres, while lesions in the flocculonodular lobe are associated with vestibular control of dynamic stability during walking and eye-head coordination. Additionally, truncal ataxia is associated with lesions in the cerebellar vermis [7]. The causes of CA are acquired and genetic; the former include neurodegenerative, vascular, autoimmune, demyelinating, toxic, infectious, and neoplastic types, while the latter include autosomal dominant, autosomal recessive, X-linked, and mitochondrial types [8]. The most common autosomal dominant CA types in Japan are spinocerebellar ataxia type 3 (SCA3), spinocerebellar ataxia type 6 (SCA6), dentato-rubullo-pallido-luysian atrophy, and spinocerebellar ataxia type 31 (SCA31) [9, 10]. Among sporadic adult onset degenerative CA, multiple systemic atrophy (MSA) is characterized by CA and involvement of autonomic function and extrapyramidal signs.
Quantifiable markers of motor function are increasingly being explored as useful tools to aid in the clinical ratings of neurodegenerative diseases. Several testing protocols and technologies have been applied to assess CA in different body parts and are often evaluated using clinical ratings [11, 12]. Among the clinical ratings, the Scale of the Assessment and Rating of Ataxia (SARA) semi-quantitatively describes the severity of CA with reasonable sensitivity and reproducibility, both cross-sectional and longitudinal assessments [13, 14]. To conduct multicenter longitudinal therapeutic trials, there is a need to test biomarkers that allow for more objective, eligible detection of subtle changes and feasible quantitative measures. Recently, applied technologies have included wearable sensors [2, 15, 16] and three-dimensional marker-free cameras [3, 17–19] for quantifying movement patterns in neurological diseases. Motognosis Labs (Motognosis, https://www.motognosis.com/en/technology/index.html) is a marker-free motion analysis application that uses a commercially available RGB-depth sensor (Microsoft Kinect V2; Microsoft, Redmond, USA), accompanied with customized analytical software to derive functional motor parameters from tasks, including walking, balance, and postural control while standing [17]. The motor tasks used in this system were developed to evaluate motor function in neurological diseases with high reproducibility [17] and have previously been applied and validated in healthy individuals [17, 20, 21], patients with multiple sclerosis [22, 23], and patients with Parkinson's disease [24].
This study aimed to elucidate the motor characteristics of CA using an RGB-depth camera-based motion analysis system, the Motognosis System, with multiple motor tasks. The analyses consisted of two steps. First, quantifiable motor parameters of gait and postural control were generated using the Motognosis system; these were compared between CA patients and healthy individuals to describe the motor dysfunction of CA, thereby defining potential diagnostic biomarkers. Second, the relationships between these motor parameters and clinical ratings of disease severity (SARA scores) were investigated through correlation analyses to explore the clinical relevance and potential sensitivity. These results will help identify the most promising tasks and quantitative motor parameters that are applicable for diagnosis and longitudinal observations in future studies as digital motor biomarkers of CA.