Abstract
Hereditary amyloidosis associated with transthyretin V30M (ATTRv V30M) is a rare and inherited multisystemic disease, with a variable presentation and a challenging diagnosis, follow-up and treatment. This condition entails a definitive and progressive motor impairment that compromises walking ability from near onset. The detection of the latter is key for the disease's diagnosis. The aim of this work is to perform quantitative 3-D gait analysis in ATTRv V30M patients, at different disease stages, and explore the potential of the obtained gait information for supporting early diagnosis and/or stage distinction during follow-up. Sixty-six subjects (25 healthy controls, 14 asymptomatic ATTRv V30M carriers, and 27 symptomatic patients) were included in this case-control study. All subjects were asked to walk back and forth for 2 min, in front of a Kinect v2 camera prepared for body motion tracking. We then used our own software to extract gait-related parameters from the camera's 3-D body data. For each parameter, the main subject groups and symptomatic patient subgroups were statistically compared. Most of the explored gait parameters can potentially be used to distinguish between the considered group pairs. Despite of statistically significant differences being found, most of them were undetected to the naked eye. Our Kinect camera-based system is easy to use in clinical settings and provides quantitative gait information that can be useful for supporting clinical assessment during ATTRv V30M onset detection and follow-up, as well as developing more objective and fine-grained rating scales to further support the clinical decisions.
Highlights
Hereditary amyloidosis associated with transthyretin (ATTRv amyloidosis) is a highly disabling multisystemic disorder with autosomal dominant inheritance and variable penetrance [1]
Galna et al showed that the Kinect is able to accurately measure timing and spatial characteristics and provide valuable knowledge in the context of motor disorders evaluation [18]. In this contribution, which builds on our previous work where we studied the validity of our gait analysis system based on a RGB-D camera in the context of ATTRv V30M patient assessment and disease progression evaluation [15, 16], we aim to characterize the influence that ATTRv V30M polyneuropathy may have in patients’ gait and, if any differences are detected, verify if the changes have any diagnostic or group-distinction value
To verify if the obtained quantitative information is valuable for supporting ATTRv V30M clinical gait assessment, we investigated if there were differential gait characteristics which may aid the diagnosis of the polyneuropathy, prediction of motor impairment onset and/or distinction among different disease phases
Summary
Hereditary amyloidosis associated with transthyretin (ATTRv amyloidosis) is a highly disabling multisystemic disorder with autosomal dominant inheritance and variable penetrance [1]. The most frequent mutation, causing important foci of the disease in several countries or regions (e.g., Portugal, Sweden, Japan, Brazil), shows the replacement of valine by methionine at position 30 of the TTR protein (TTRVal30Met). It is associated to life-threatening autonomic dysfunction, leading to cachexia and death within 7.3 to 11 years from onset, if left untreated [3]. Onset occurs typically around 35 years old [4], in some areas, namely Sweden and Japan, patients present a late onset— age of onset around 50 years old or older—which presents a faster and more severe disease progression [5] and less autonomic involvement compared to early onset cases
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