A systematic review of the gait characteristics associated with Cerebellar Ataxia

Buckley, Ellen; Mazzà, Claudia; McNeill, Alisdair

doi:10.1016/j.gaitpost.2017.11.024

Cited by 144 publications

(122 citation statements)

References 48 publications

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“…There is an ongoing debate about whether or not walking slower is more stable (Bruijn et al, 2009). We know certain patient populations reduce their gait speed and increase their cadence (Himann et al, 1988;Lauretani et al, 2003;Buckley et al, 2018;Duan-Porter et al, 2019), but is the motivation to improve stability? Key factors that lead to the decrease in gait speed in older adults remains unresolved, but we speculate that the control of balance plays a larger role than previously recognized.…”

Section: Introductionmentioning

confidence: 99%

Walking Cadence Affects the Recruitment of the Medial-Lateral Balance Mechanisms

Fettrow

Reimann

Grenet

et al. 2019

Front. Sports Act. Living

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We have previously identified three balance mechanisms that young healthy adults use to maintain balance while walking. The three mechanisms are: (1) The lateral ankle mechanism, an active modulation of ankle inversion/eversion in stance; (2) The foot placement mechanism, an active shift of the swing foot placement; and (3) The push-off mechanism, an active modulation of the ankle plantarflexion angle during double stance. Here we seek to determine whether there are changes in neural control of balance when walking at different cadences and speeds. Twenty-one healthy young adults walked on a self-paced treadmill while immersed in a 3D virtual reality cave, and periodically received balance perturbations (bipolar galvanic vestibular stimulation) eliciting a perceived fall to the side. Subjects were instructed to match two cadences specified by a metronome, 110 bpm (High) and 80 bpm (Low), which in this experiment, led to faster and slower gait speeds, respectively. The results indicate that subjects altered the use of the balance mechanisms at different cadences. The lateral ankle mechanism was used more in the Low condition, while the foot placement mechanism was used more in the High condition. There was no difference in the use of the push-off mechanism between cadence conditions. These results suggest that neural control of balance is altered when gait characteristics, such as cadence change, suggesting a flexible balance response that is sensitive to the constraints of the gait cycle. We speculate that the use of the balance mechanisms may be a factor resulting in well-known characteristics of gait in populations with compromised balance control, such as slower gait speed in older adults or higher cadence in people with Parkinson's disease.

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Section: Introductionmentioning

confidence: 99%

Walking Cadence Affects the Recruitment of the Medial-Lateral Balance Mechanisms

Fettrow

Reimann

Grenet

et al. 2019

Front. Sports Act. Living

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“…Lifespan is not significantly reduced with a number of affected individuals living into their 80s. A detailed neurological examination was undertaken on the three subjects and found that all displayed an ataxic gait, characterized by a broadened base of support, lateral veering, reduced walking speed, irregular foot placement, an increased stance phase and increased foot rotation angles [8,9]. Oculomotor abnormalities were consistent with cerebellar impairment and included saccadic horizontal and vertical visual pursuits [10] and vestibulo-ocular reflex suppression [11]; and dysmetric saccades to target [12].…”

Section: Resultsmentioning

confidence: 99%

Rapid diagnosis of SCA36 in a three-generation family using short-read whole genome sequencing data

Rafehi

Szmulewicz

Pope

et al. 2019

Preprint

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Background: Spinocerebellar ataxias (SCA) are often caused by expansions of short tandem repeats (STRs). Recent methodological advances have made repeat expansion (RE) detection with whole genome sequencing (WGS) feasible. Objectives: To determine the genetic basis of ataxia in a large, multigenerational Australian pedigree, with autosomal dominant inheritance and possible anticipation. Methods and Results: WGS was performed on three affected relatives. The sequence data was screened for known pathogenic REs using three repeat expansion detection tools: exSTRa, ExpansionHunter and GangSTR. This screen provided a clear and rapid diagnosis (<5 days from receiving the sequencing data) of SCA36, a very rare form of ataxia which is caused by an intronic hexanucleotide GGCCTG RE in NOP56. Conclusions:We have demonstrated that diagnosis of rare ataxias caused by REs is highly feasible and cost effective with WGS. We propose a change in current clinical practice, such that WGS be implemented as the frontline, cost effective methodology for molecular testing of individuals with a clinical diagnosis of ataxia.

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“…Gait disturbances often present as the first signs of degenerative cerebellar ataxia (DCA) 1,2 and are one of the most disabling features throughout the disease course. It has been shown in laboratory-based assessments that measures of spatial and temporal movement variability allow distinctively to capture and characterize the specificities of ataxic gait [3][4][5][6][7][8][9][10] . Moreover, they allow to quantify disease severity even at preclinical stages of DCA 11,12 and to capture treatment-induced improvements in a fine-grained fashion [13][14][15] , thus suggesting a high potential as both progression and treatment response parameters in the upcoming treatment trials [16][17][18] .…”

Section: Discussionmentioning

confidence: 99%

Towards ecologically valid biomarkers: real-life gait assessment in cerebellar ataxia

Seemann

Giese

et al. 2019

Preprint

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A systematic review of the gait characteristics associated with Cerebellar Ataxia

Cited by 144 publications

References 48 publications

Walking Cadence Affects the Recruitment of the Medial-Lateral Balance Mechanisms

Walking Cadence Affects the Recruitment of the Medial-Lateral Balance Mechanisms

Rapid diagnosis of SCA36 in a three-generation family using short-read whole genome sequencing data

Towards ecologically valid biomarkers: real-life gait assessment in cerebellar ataxia

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