Spinocerebellar ataxia type 6 (SCA6): Clinical pilot trial with gabapentin

Nakamura, Katsuya; Yoshida, Katsumi; Miyazaki, Daigo; Morita, Hiroshi; Ikeda, Shu‐ichi

doi:10.1016/j.jns.2008.12.017

Cited by 34 publications

(13 citation statements)

References 20 publications

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“…Hence, these findings again question the division of both ICARS and FARS into subscales (B€ urk et al 2009). Nevertheless, ICARS has been successfully applied to clinical and therapeutic trials in various ataxia disorders (Hassin-Baer et al 2000;Gabsi et al 2001;Artuch et al 2002;Mori et al 2002;Bier et al 2003;Di Prospero et al 2007;Cooper et al 2008;Heo et al 2008;Pineda et al 2008Pineda et al , 2010Kimura et al 2009Kimura et al , 2011Nakamura et al 2009;Lynch et al 2010;Ristori et al 2010;Meier et al 2012). Because several clinical trials using ICARS as the primary outcome failed to show efficacy, its use as the primary clinical scale in future clinical trials should be questioned.…”

Section: Icarsmentioning

confidence: 99%

Monitoring progression in Friedreich ataxia (FRDA): the use of clinical scales

Bürk

Schulz

2013

Journal of Neurochemistry

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Friedreich ataxia (FRDA) is a progressive neurodegenerative disorder associated with ataxia, dysarthria, pyramidal tract signs, sensory loss, cardiomyopathy and diabetes. There is no cure for FRDA so far. Studies of the natural history of the disease and future therapeutic trials require development of appropriate outcome markers. Since any therapeutic benefit is expected to modulate deterioration over time rather than to reverse disability, potential outcome measures must be sensitive instruments carefully analysed for their significance. Clinical scales may represent an appropriate measuring tool.Over the last few years the construction, evaluation and validation of sensitive clinical scales for the assessment of disease severity and progression in ataxia have had considerable impact on our understanding of the disease. Currently, there are three different scales that are most frequently applied: The International Cooperative Ataxia Rating Scale (ICARS), the Friedreich Ataxia Rating Scale (FARS) and the Scale for the Assessment and Rating of Ataxia (SARA). All scales have been validated and compared with regard to their testing properties. Friedreich ataxia (FRDA) is a progressive neurodegenerative disorder resulting from mutations within the first intron of the FRDA gene on chromosome 9 leading to impaired frataxin levels and impaired mitochondrial function. To date, there is no cure for FRDA. The study of the natural history of the disease and the execution of future therapeutic trials call for the development of appropriate outcome markers. Therapies may lead to a symptomatic effect resulting in improvement of symptoms and/or may interfere with the disease pathogenesis leading to a slowing-down of disease progression. Potential outcome measures must be sensitive instruments carefully analysed for their significance with respect to either effect. Otherwise, the lack of appropriate assessment tools may undermine any scientific evidence for therapeutic effectiveness. Clinical scales may represent an appropriate and cheap tool since they do not require elaborate infrastructure. Quality characteristics of clinical scalesA scale should be easy to learn and perform to facilitate integration into clinical routine. In addition, it should be rather compact to decrease fatigue in both the proband and the examiner. Furthermore, it should be robust and not influenced by external factors or fluctuations over the course of a day or from day to day. Basically, scales must correspond to certain quality aspects: A measuring tool must fulfil standards of acceptability, reliability and validity. A scale is acceptable if scores span the entire range without major floor (more than 20% of values drop under a certain threshold) or ceiling effects (more than 20% of scores correspond to the high-end range). To correctly display a wide range of clinical severity, a scale must also display adequate linearity. This is analysed by regression analysis applying a linear model. Reliability refers to the influence of random errors o...

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Section: Icarsmentioning

confidence: 99%

Monitoring progression in Friedreich ataxia (FRDA): the use of clinical scales

Bürk

Schulz

2013

Journal of Neurochemistry

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“…Currently, no treatments exist to reverse or substantially reduce motor disability caused by cerebellar degeneration. Nevertheless continual improvements in pharmacological agents12–15 and targeted rehabilitation interventions16–19 may eventually lead to amelioration or at least some slowing of the progression of gait ataxia.…”

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confidence: 99%

Longitudinal tracking of gait and balance impairments in cerebellar disease

et al. 2010

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Cerebellar damage typically results in ataxia and can be caused by stroke, tumor or one of many forms of degenerative disease. Since few pharmacological options are available, most treatments rely heavily on rehabilitation therapy. Little data exist on methods for tracking the progression of ataxia, which is critical for assessing the efficacy of current and newly developing treatments. Here, we tracked the severity of ataxia, with a particular emphasis on gait and balance dysfunction, in a group of individuals with cerebellar damage using the International Cooperative Ataxia Rating Scale (ICARS) and several instrumented laboratory measures of gait and balance impairments over one year. We found that the ICARS was able to distinguish between subjects with static lesions and those with degenerative disorders, was sensitive to increases in ataxia severity occurring over one year, and correlated well with specific instrumented measures of gait in persons with cerebellar degeneration. These results suggest the ICARS is a valuable tool for clinicians and investigators to document and track long-term changes in gait and balance performance in individuals with cerebellar degenerative disorders.

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“…In a pilot trial of gabapentin in 11 patients, there was a varied response. Some patients improved their ataxia rating scale but overall there was no statistical significance in efficacy 10. Our patient was not helped by gabapentin.…”

Section: Questionmentioning

confidence: 51%