Construct Validity and Reliability of the SARA Gait and Posture Sub-scale in Early Onset Ataxia

Lawerman, T.F.; Brandsma, R.; Verbeek, R.J.; Hoeven, Johannes H. van der; Lunsing, Roelineke J.; Kremer, H.P.H.; Sival, Deborah A

doi:10.3389/fnhum.2017.00605

Cited by 23 publications

(38 citation statements)

References 32 publications

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“…Within a multi-center cohort of 49 patients with early-onset cerebellar ataxia and/or cerebellar atrophy, two patients were identified with SPTBN2 mutations and diagnosed with cerebellar ataxia, based on the validated scales scale for the assessment and rating of ataxia (SARA) [ 39 , 40 , 41 ] and international cooperative ataxia rating scale (ICARS) [ 42 , 43 , 44 ]. Clinical follow-up from the age at onset and MRI controls of both patients were done at the same hospital.…”

Section: Methodsmentioning

confidence: 99%

Expanding the β-III Spectrin-Associated Phenotypes toward Non-Progressive Congenital Ataxias with Neurodegeneration

Sancho

Andrés-Bordería

Gorría-Redondo

et al. 2021

IJMS

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(1) Background: A non-progressive congenital ataxia (NPCA) phenotype caused by b-III spectrin (SPTBN2) mutations has emerged, mimicking spinocerebellar ataxia, autosomal recessive type 14 (SCAR14). The pattern of inheritance, however, resembles that of autosomal dominant classical spinocerebellar ataxia type 5 (SCA5). (2) Methods: In-depth phenotyping of two boys studied by a customized gene panel. Candidate variants were sought by structural modeling and protein expression. An extensive review of the literature was conducted in order to better characterize the SPTBN2-associated NPCA. (3) Results: Patients exhibited an NPCA with hypotonia, developmental delay, cerebellar syndrome, and cognitive deficits. Both probands presented with progressive global cerebellar volume loss in consecutive cerebral magnetic resonance imaging studies, characterized by decreasing midsagittal vermis relative diameter measurements. Cortical hyperintensities were observed on fluid-attenuated inversion recovery (FLAIR) images, suggesting a neurodegenerative process. Each patient carried a novel de novo SPTBN2 substitution: c.193A > G (p.K65E) or c.764A > G (p.D255G). Modeling and protein expression revealed that both mutations might be deleterious. (4) Conclusions: The reported findings contribute to a better understanding of the SPTBN2-associated phenotype. The mutations may preclude proper structural organization of the actin spectrin-based membrane skeleton, which, in turn, is responsible for the underlying disease mechanism.

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Section: Methodsmentioning

confidence: 99%

Expanding the β-III Spectrin-Associated Phenotypes toward Non-Progressive Congenital Ataxias with Neurodegeneration

Sancho

Andrés-Bordería

Gorría-Redondo

et al. 2021

IJMS

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“…While small changes in the scores of these scales might be statistically significant in trials, the impact of such in patient's symptoms and quality of life can be meaningless, being important to thoroughly define which score changes are, in fact, impactful [249]. Despite this, several studies have proposed these scores as the best qualitative measure for ataxic symptoms and these have been validated in several populations [250][251][252][253][254]. Since consensus on the best scale to use is hard to achieve with current evidence, clinical researchers should report several different scores, as this allows direct comparison with other studies, which are likely to have used at least one of the same scales.…”

Section: Clinical Trials In Sca3: Advances and Challengesmentioning

confidence: 99%

From Pathogenesis to Novel Therapeutics for Spinocerebellar Ataxia Type 3: Evading Potholes on the Way to Translation

2019

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Spinocerebellar ataxia type 3 (SCA3), also known as Machado-Joseph disease (MJD), is a neurodegenerative disorder caused by a polyglutamine expansion in the ATXN3 gene. In spite of the identification of a clear monogenic cause 25 years ago, the pathological process still puzzles researchers, impairing prospects for an effective therapy. Here, we propose the disruption of protein homeostasis as the hub of SCA3 pathogenesis, being the molecular mechanisms and cellular pathways that are deregulated in SCA3 downstream consequences of the misfolding and aggregation of ATXN3. Moreover, we attempt to provide a realistic perspective on how the translational/clinical research in SCA3 should evolve. This was based on molecular findings, clinical and epidemiological characteristics, studies of proposed treatments in other conditions, and how that information is essential for their (re-)application in SCA3. This review thus aims i) to critically evaluate the current state of research on SCA3, from fundamental to translational and clinical perspectives; ii) to bring up the current key questions that remain unanswered in this disorder; and iii) to provide a frame on how those answers should be pursued.

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“…29 . The SARA subscore posture&gait is defined by the first three items of the SARA score which capture gait, standing and sitting 30 . #Strides denotes the number of steps analysed for the given walking condition.…”

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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Construct Validity and Reliability of the SARA Gait and Posture Sub-scale in Early Onset Ataxia

Cited by 23 publications

References 32 publications

Expanding the β-III Spectrin-Associated Phenotypes toward Non-Progressive Congenital Ataxias with Neurodegeneration

Expanding the β-III Spectrin-Associated Phenotypes toward Non-Progressive Congenital Ataxias with Neurodegeneration

From Pathogenesis to Novel Therapeutics for Spinocerebellar Ataxia Type 3: Evading Potholes on the Way to Translation

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

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