Impaired gait kinematics in type 1 Gaucher’s Disease

Sorrentino, Pierpaolo; Barbato, Antonio; Gaudio, Luigi Del; Rucco, Rosaria; Varriale, Pasquale; Sibilio, Michelina; Strazzullo, Pasquale; Sorrentino, Giuseppe; Agosti, Valeria

doi:10.3233/jpd-150660

Cited by 24 publications

(19 citation statements)

References 13 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…In agreement with the modified Davis protocol 39 , fifty-five passive markers were positioned on each participant on anatomical landmarks of the feet, the lower limb joints, the pelvis and the trunk, as well as on the upper limb joints and on the head (Fig.1). The recorded data were processed using a tracking data software (Qualysis Track Manager by Qualisys AB, Göteborg, Sweden) and a software (Visual 3D by C-Motion Inc., Germantown, MD) to rebuild a model of the skeleton 16,40 . We recorded four trials for each frequency and each trial included four consecutive steps (a gait cycle), similarly to Liparoti et al, 15 .…”

Section: Methodsmentioning

confidence: 99%

“…In order to quantify instability, identify weak points and try to minimize these risks, several studies have investigated movement and, in particular, locomotion in elderly subjects, using different methodologies and tools [10][11][12] . Among these, the 3D gait analysis (3D-GA), typically considered the gold standard 31 , is a quantitative method to measure the kinematics of movements, widely applied for the assessment of motor skills, in physiological and pathological conditions [13][14][15][16][17][18][19] .…”

Section: Introductionmentioning

confidence: 99%

See 1 more Smart Citation

The effects of different frequencies of rhythmic acoustic stimulation on gait kinematics and trunk sway in healthy elderly population

Minino

Sorrentino

et al. 2020

Preprint

Self Cite

View full text Add to dashboard Cite

The use of rhythmic acoustic stimulation (RAS) in improving gait and balance in healthy elderly subjects has been widely investigated. However, methodologies and results are often controversial. In this study, we hypothesize that both the kinematic features of gait and stability, depend on the frequency at which RAS is administered. Our aim was to observe, through 3D Gait Analysis, the effect of different types of RAS (at a fixed frequency or based on the average cadence of each subject) on both gait spatio-temporal parameters and stability. The latter was estimated through an innovative measure, the trunk displacement index (TDI) that we have recently implemented. We observed that the low frequencies RAS led to a general slowdown of gait, which did not provide any clear benefit and produced harmful effects on stability when the frequency became too low compared to the individual natural frequency. On the contrary, the high frequencies of RAS showed a slight acceleration of gait, accompanied by better stability (as documented by a lower TDI value), regardless of the type of RAS. Finally, the RAS equal to the individual natural cadence also produced an increase in stability.

show abstract

Section: Methodsmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

The effects of different frequencies of rhythmic acoustic stimulation on gait kinematics and trunk sway in healthy elderly population

Minino

Sorrentino

et al. 2020

Preprint

Self Cite

View full text Add to dashboard Cite

show abstract

“…Kinematic parameters. Furthermore, kinematics parameters of the lower limb joints (ankle (A), knee (K), thigh (T)) were calculated to specifically collect the angular values of each flexion/extension peak, normalized for the 100% of the gait cycle 29,30 . Then, we calculated the difference between each consecutive peak, and www.nature.com/scientificreports/ obtaining their respective vectors of distances in all three planes.…”

Section: Spatiotemporal Parametersmentioning

confidence: 99%

A synthetic kinematic index of trunk displacement conveying the overall motor condition in Parkinson’s disease

Lopez

Minino

Sorrentino

et al. 2021

Sci Rep

Self Cite

View full text Add to dashboard Cite

Parkinson's disease (PD) is characterized by motor impairment, affecting quality of life and increasing fall risk, due to ineffective postural control. To this day, the diagnosis remains based on clinical approach. Similarly, motor evaluation is based on heterogeneous, operator-dependent observational criteria. A synthetic, replicable index to quantify motor impairment is still lacking. Hence, we have designed a new measure of postural stability which assesses the trunk displacement in relation to the center of mass, that we named trunk displacement index (TDI). Twenty-three PD patients and twenty-three healthy controls underwent motor examination through a stereophotogrammetric system. A correlation analysis was performed to assess the relationship of TDI with gait parameters and clinical motor scale (UPDRS-III). The TDI sensitivity was estimated, comparing pre- and post- L-DOPA subclinical dose intake. The TDI showed significant correlations with many gait parameters and with the UPDRS-III. Furthermore, the TDI resulted capable in discriminating between off and on state in PD, whereas gait parameters failed two show any difference between those two conditions. Our results suggest that the TDI may be considered a highly sensitive biomechanical index, reflecting the overall motor condition in PD, and provided of clinical relevance due to the correlation with the clinical evaluation.

show abstract

“…Here we could show that first signs of motor deficits are already quantitatively measurable starting at 8 week of age and that the observed phenotype progresses over age. With this behavioral test battery it was thus possible to analyze 4L/PS-NA mice for symptoms that are similarly described in GD patients like abnormal gait and bulbar dysfunctions like respiratory problems, dysphagia and altered speech [21][22][23][24][25].…”

Section: Motor Deficits Of 4l/ps-na Micementioning

confidence: 99%

Characterization of the visceral and neuronal phenotype of 4L/PS-NA mice modeling Gaucher disease

et al. 2020

View full text Add to dashboard Cite

Gaucher disease is caused by a deficiency in glucocerebrosidase that can result in non-neuronal as well as neuronal symptoms. Common visceral symptoms are an increased organ size, specifically of the spleen, and glucosylceramide as well as glucosylsphingosine substrate accumulations as a direct result of the glucocerebrosidase deficiency. Neuronal symptoms include motor deficits and strong alterations in the cerebellum. To evaluate the effect of new compounds for the treatment of this devastating disease, animal models are needed that closely mimic the human phenotype. The 4L/PS-NA mouse as model of Gaucher disease is shown to present reduced glucocerebrosidase activity similar to human cases but an in-depth characterization of the model was still not performed. We therefore analyzed 4L/PS-NA mice for visceral alterations, motor deficits and also neuronal changes like glucocerebrosidase activity, substrate levels and neuroinflammation. A special focus was set at pathological changes of the cerebellum. Our results show that 4L/PS-NA mice have strongly enlarged visceral organs that are infiltrated by enlarged leukocytes and macrophages. Furthermore, animals present strong motor deficits that are accompanied by increased glucosylceramide and glucosylsphingosine levels in the brain, astrocytosis and activated microglia in the cortex and hippocampus as well as reduced calbindin levels in the cerebellum. The latter was directly related to a strong Purkinje cell loss. Our results thus provide a detailed characterization of the 4L/PS-NA mouse model over age showing the translational value of the model and validating its usefulness for preclinical efficiency studies to evaluate new compounds against Gaucher disease.

show abstract

Impaired gait kinematics in type 1 Gaucher’s Disease

Cited by 24 publications

References 13 publications

The effects of different frequencies of rhythmic acoustic stimulation on gait kinematics and trunk sway in healthy elderly population

The effects of different frequencies of rhythmic acoustic stimulation on gait kinematics and trunk sway in healthy elderly population

A synthetic kinematic index of trunk displacement conveying the overall motor condition in Parkinson’s disease

Characterization of the visceral and neuronal phenotype of 4L/PS-NA mice modeling Gaucher disease

Contact Info

Product

Resources

About