Quantitative measures of neurological function in chronic neuromuscular diseases and ataxia

Fillyaw, Michael; Badger, Gary J.; Bradley, Walter G.; Tandan, Rup; Blair, Christiana; Fries, Timothy J.; Wilder, David G.; Boerman, Joy; Young, Jeffrey L.; Witarsa, M.

doi:10.1016/0022-510x(89)90172-x

Cited by 20 publications

(20 citation statements)

References 48 publications

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“…Although a number of ataxia rating scales have been proposed, [1][2][3][4] there have been only few attempts to validate these scales. An essential prerequisite for such trials is the availability of validated neurologic assessment methods to measure the severity of ataxia.…”

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confidence: 99%

Scale for the assessment and rating of ataxia

et al. 2006

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confidence: 99%

Scale for the assessment and rating of ataxia

et al. 2006

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“…Several rating scales are available to evaluate the clinical severity of ataxia, including quantitative measures of neurological function,8 scaling of cerebellar symptoms,9 the International Cooperative Ataxia Rating Scale (ICARS),10 Unified Multiple System Atrophy Rating Scale (UMSARS),11 Friedreich's Ataxia Rating Scale (FARS),12 Scale for the Assessment and Rating of Ataxia (SARA),13 SCA functional index (SCAFI),14 and Neurological Examination Score for the assessment of Spinocerebellar Ataxia (NESSCA) 15. Among them, SARA was validated to be a reliable semiquantitative clinical scale,13, 16 which satisfies accepted criteria of reliability and measures a single factor: ataxia 13, 17.…”

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confidence: 99%

Comparison of cerebellar ataxias: A three‐year prospective longitudinal assessment

et al. 2011

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We quantitatively investigated the clinical severity and progression of diseases with ataxia, as measured with the Scale for the Assessment and Rating of Ataxia, and examined the potential application of the Scale for the Assessment and Rating of Ataxia for future therapeutic trials. Severity of ataxia was assessed in 238 patients with spinocerebellar ataxia type 2, spinocerebellar ataxia type 3, spinocerebellar ataxia type 6, spinocerebellar ataxia type 17, multiple system atrophy-cerebellar variant, or Gerstman-Sträussler-Scheinker disease. Among them, 119 (50%) were longitudinally examined three to seven times, in a period of 8 to 38 months, resulting in a total set of 535 assessments. The differences between spinocerebellar ataxia and multiple system atrophy-cerebellar variant were ascertained cross-sectionally and longitudinally. Gerstman-Sträussler-Scheinker disease had the fastest progression, followed by multiple system atrophy-cerebellar variant, spinocerebellar ataxia type 17, spinocerebellar ataxia type 3, spinocerebellar ataxia type 2, and spinocerebellar ataxia type 6. Patients with multiple system atrophy-cerebellar variant had a faster progression in gait, sitting, speech, and total score than patients with spinocerebellar ataxias. For a randomized, case-control trial, a sample size of 47 for spinocerebellar ataxia and 85 for multiple system atrophy-cerebellar variant in the treatment or placebo arms would have a sufficient statistical power to demonstrate the efficacy of a new therapy that would retard ataxia progression by 1 point per year as measured by the Scale for the Assessment and Rating of Ataxia. The results will have a significant impact on the planning and implementation of future therapeutic trials of spinocerebellar ataxia and multiple system atrophy-cerebellar variant.

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“…Increased muscle tone in the legs was a somewhat less powerful predictor of gene status. While establishing gradations of hyperreflexia and increased tone is subjective and vulnerable to interpretation, these measures are nonetheless generally reliable 26. Individuals with SPG4 have been described with clinical manifestations indicative of more widespread brain involvement, including severe autonomic dysfunction, dementia, and/or epilepsy 25, 27–30.…”

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Clinical signs and symptoms in a large hereditary spastic paraparesis pedigree with a novel spastin mutation

et al. 2004

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The most common form of autosomal dominant hereditary spastic paraparesis (HSP), SPG4, is caused by mutations in the spastin gene on chromosome 2p. This disease is characterized by intra- and interfamilial phenotypic variation. To determine the predictive values of clinical signs and symptoms in SPG4, we examined 43 members of a large pedigree with autosomal dominant HSP. We then identified the genetic etiology of the disorder in this family, a novel nonsense mutation in exon 1 of spastin, carried by 24 of the examined family members. The best clinical predictors of positive gene status were the presence of hyperreflexia in the lower extremities, >2 beats of ankle clonus, pes cavus, bladder symptoms and increased tone in the legs. The mean age of onset was 32.2 +/- 7.4 years, but the age of onset was earlier in children from 10 of 12 child-parent gene-positive pairs, with a mean difference of 10.8 +/- 3.3 years. The finding of leg weakness was especially common in older-onset affected family member with leg hyperreflexia. These results suggest that specific clinical signs and symptoms may be of value in differentiating individuals affected with SPG4 from family members with nonspecific neurological findings.

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Quantitative measures of neurological function in chronic neuromuscular diseases and ataxia

Cited by 20 publications

References 48 publications

Scale for the assessment and rating of ataxia

Scale for the assessment and rating of ataxia

Comparison of cerebellar ataxias: A three‐year prospective longitudinal assessment

Clinical signs and symptoms in a large hereditary spastic paraparesis pedigree with a novel spastin mutation

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