Instrumented gait analysis defines the walking signature of CACNA1A disorders

Indelicato, Elisabetta; Raccagni, Cecilia; Runer, Sarah; Hannink, Julius; Nachbauer, Wolfgang; Eigentler, Andreas; Amprosi, Matthias; Wenning, Gregor K.; Boesch, Sylvia

doi:10.1007/s00415-021-10878-y

Cited by 8 publications

(3 citation statements)

References 21 publications

(29 reference statements)

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“…EEG abnormalities are highly prevalent between attacks, especially in younger patients or with earlyonset attacks [46]. Amongst CACNA1Apositive adult cases with EA, instrumented gait analysis can detect a specific gait signature of narrowbased gait and lower landing acceleration [47]. In pediatric cases, single fiber EMG can be a useful diagnostic aid to confirm abnormal neuromuscular transmission, where genetic analysis is difficult or novel mutations are present [48].…”

Section: Expanded Descriptionmentioning

confidence: 99%

Episodic Ataxias: Primary and Secondary Etiologies, Treatment, and Classification Approaches

Hassan¹

2023

Tremor and Other Hyperkinetic Movements

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Background: Episodic ataxia (EA), characterized by recurrent attacks of cerebellar dysfunc tion, is the manifestation of a group of rare autosomal dominant inherited disorders. EA1 and EA2 are most frequently encountered, caused by mutations in KCNA1 and CACNA1A. EA3-8 are reported in rare families. Advances in genetic testing have broadened the KCNA1 and CACNA1A phenotypes, and detected EA as an unusual presentation of several other genetic disorders. Additionally, there are various secondary causes of EA and mimicking disorders. Together, these can pose diagnostic challenges for neurologists.Methods: A systematic literature review was performed in October 2022 for 'episodic ataxia' and 'paroxysmal ataxia', restricted to publications in the last 10 years to focus on recent clinical advances. Clinical, genetic, and treatment characteristics were summarized.Results: EA1 and EA2 phenotypes have further broadened. In particular, EA2 may be accom panied by other paroxysmal disorders of childhood with chronic neuropsychiatric features. New treatments for EA2 include dalfampridine and fampridine, in addition to 4aminopyridine and acetazolamide. There are recent proposals for EA9-10. EA may also be caused by gene mutations associated with chronic ataxias (SCA-14, SCA-27, SCA-42, AOA2, CAPOS), epilepsy syndromes (KCNA2, SCN2A, PRRT2), GLUT1, mitochondrial disorders (PDHA1, PDHX, ACO2), metabolic disorders (Maple syrup urine disease, Hartnup disease, type I citrullinemia, thiamine and biotin metabolism defects), and others. Secondary causes of EA are more commonly encountered than primary EA (vascular, inflammatory, toxicmetabolic). EA can be misdiagnosed as migraine, peripheral vestibular disorders, anxiety, and functional symptoms. Primary and secondary EA are frequently treatable which should prompt a search for the cause.Discussion: EA may be overlooked or misdiagnosed for a variety of reasons, including phenotypegenotype variability and clinical overlap between primary and secondary causes. EA is highly treatable, so it is important to consider in the differential diagnosis of paroxysmal disorders. Classical EA1 and EA2 phenotypes prompt single gene test and treatment pathways. For atypical phenotypes, next generation genetic testing can aid diagnosis and guide treatment. Updated classification systems for EA are discussed which may assist diagnosis and management.

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Section: Expanded Descriptionmentioning

confidence: 99%

Episodic Ataxias: Primary and Secondary Etiologies, Treatment, and Classification Approaches

Hassan¹

2023

Tremor and Other Hyperkinetic Movements

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“…The prevalence of gait disorders increases with age, ranging from about 10% in people aged 60 to 69 years to over 60% in those over 80 years of age ( Mahlknecht et al, 2013 ). Abnormal gait usually manifests as slower gait velocity and cadence, shorter step length, smaller first double contact point, larger last double contact point, and a larger proportion of stance and swing phase time ( Hollman, McDade & Petersen, 2011 ; Moreira, Sampaio & Kirkwood, 2015 ; Raccagni et al, 2020 ; Niederer et al, 2021 ; Indelicato et al, 2022 ). The emergence of abnormal gait causes the elderly to reduce physical activity and increases the risk of falling ( Paterson, Hill & Lythgo, 2011 ; Marini et al, 2022 ).…”

Section: Introductionmentioning

confidence: 99%

The mechanism of static postural control in the impact of lower limb muscle strength asymmetry on gait performance in the elderly

Si,

Zhu,

Wei

et al. 2024

PeerJ

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Background Abnormal gait is prevalent among the elderly population, leading to reduced physical activity, increased risk of falls, and the potential development of dementia and disabilities, thus degrading the quality of life in later years. Numerous studies have highlighted the crucial roles of lower limb muscle strength asymmetry and static postural control in gait, and the reciprocal influence of lower limb muscle strength asymmetry on static postural control. However, research exploring the interrelationship between lower limb muscle strength asymmetry, static postural control, and gait performance has been limited. Methods A total of 55 elderly participants aged 60 to 75 years were recruited. Isokinetic muscle strength testing was used to assess bilateral knee extension strength, and asymmetry values were calculated. Participants with asymmetry greater than 15% were categorized as the Asymmetry Group (AG), while those with asymmetry less than 15% were classified in the Symmetry Group (SG). Gait parameters were measured using a plantar pressure gait analysis system to evaluate gait performance, and static postural control was assessed through comfortable and narrow stance tests. Results First, participants in the AG demonstrated inferior gait performance, characterized by slower gait speed, longer stance time and percentage of stance time in gait, and smaller swing time and percentage of swing time in gait. Spatial-temporal gait parameters of the weaker limb tended to be abnormal. Second, static postural control indices were higher in AG compared to SG in all aspects except for the area of ellipse during the comfortable stance with eyes open test. Third, abnormal gait parameters were associated with static postural control. Conclusion Firstly, elderly individuals with lower limb muscle strength asymmetry are prone to abnormal gait, with the weaker limb exhibiting poorer gait performance. Secondly, lower limb muscle strength asymmetry contributes to diminished static postural control in the elderly. Thirdly, the mechanism underlying abnormal gait in the elderly due to lower limb muscle strength asymmetry may be linked to a decline in static postural control.

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“…Previous studies on BoNT in HSPs, however, were conducted on small cohorts with few genotypes, and there is a lack of objective treatment outcomes [7,8]. Mobile gait analysis has been introduced to provide objective gait measures that might be more sensitive for capturing gait-related mobility in HSPs and other rare neurological diseases [9][10][11].…”

Section: Introductionmentioning

confidence: 99%

Mobile digital gait analysis captures effects of botulinum toxin in hereditary spastic paraplegia

Ibrahim,

Ollenschläger,

Klebe

et al. 2024

Euro J of Neurology

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Background and purposeHereditary spastic paraplegias (HSPs) comprise a group of inherited neurodegenerative disorders characterized by progressive spasticity and weakness. Botulinum toxin has been approved for lower limb spasticity following stroke and cerebral palsy, but its effects in HSPs remain underexplored. We aimed to characterize the effects of botulinum toxin on clinical, gait, and patient‐reported outcomes in HSP patients and explore the potential of mobile digital gait analysis to monitor treatment effects and predict treatment response.MethodsWe conducted a prospective, observational, multicenter study involving ambulatory HSP patients treated with botulinum toxin tailored to individual goals. Comparing data at baseline, after 1 month, and after 3 months, treatment response was assessed using clinical parameters, goal attainment scaling, and mobile digital gait analysis. Machine learning algorithms were used for predicting individual goal attainment based on baseline parameters.ResultsA total of 56 patients were enrolled. Despite the heterogeneity of treatment goals and targeted muscles, botulinum toxin led to a significant improvement in specific clinical parameters and an improvement in specific gait characteristics, peaking at the 1‐month and declining by the 3‐month follow‐up. Significant correlations were identified between gait parameters and clinical scores. With a mean balanced accuracy of 66%, machine learning algorithms identified important denominators to predict treatment response.ConclusionsOur study provides evidence supporting the beneficial effects of botulinum toxin in HSP when applied according to individual treatment goals. The use of mobile digital gait analysis and machine learning represents a novel approach for monitoring treatment effects and predicting treatment response.

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Instrumented gait analysis defines the walking signature of CACNA1A disorders

Cited by 8 publications

References 21 publications

Episodic Ataxias: Primary and Secondary Etiologies, Treatment, and Classification Approaches

Episodic Ataxias: Primary and Secondary Etiologies, Treatment, and Classification Approaches

The mechanism of static postural control in the impact of lower limb muscle strength asymmetry on gait performance in the elderly

Mobile digital gait analysis captures effects of botulinum toxin in hereditary spastic paraplegia

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