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Stance instability in preclinical SCA1 mutation carriers: A 4-year prospective posturography study
Lorenzo Nanetti1, Dario Alpini2, Valentina Mattei2
1Unit of Genetics of Neurodegenerative and Metabolic Diseases, Fondazione IRCCS, Istituto Neurologico Carlo Besta, Milan Italy.
Gait & Posture
|May 29, 2017
Summary
Preclinical Spinocerebellar ataxia type 1 (SCA1) carriers show progressive postural balance deficits, especially without visual cues. These findings suggest quantitative stance analysis can aid clinical trials for early-stage SCA1.
Area of Science:
- Neurology
- Biomedical Engineering
- Genetics
Background:
- Spinocerebellar ataxia type 1 (SCA1) is a neurodegenerative disorder.
- Identifying preclinical motor deficits is crucial for early intervention.
- Postural balance is a key indicator of neurological function.
Purpose of the Study:
- To investigate postural balance in asymptomatic Spinocerebellar ataxia type 1 (SCA1) mutation carriers.
- To detect motor functional deficits before clinical symptoms appear.
- To evaluate the potential of quantitative stance analysis in preclinical trials.
Main Methods:
- Assessed 9 asymptomatic SCA1 mutation carriers and 17 controls using force platform postural tests.
- Evaluated postural sway (stability index) with and without visual feedback over 4 years.
- Calculated estimated years to disease onset for carriers.
Main Results:
- SCA1 carriers exhibited significantly higher postural sway than controls, particularly without visual feedback.
- Postural abnormalities in carriers were progressive over the 4-year study period.
- Carriers closer to estimated disease onset showed more pronounced abnormalities.
Conclusions:
- Progressive postural abnormalities are detectable in preclinical, close-to-onset SCA1 carriers.
- Quantitative stance analysis shows promise as an outcome measure for preclinical SCA1 clinical trials.
- Early identification of motor deficits can inform therapeutic strategies.
