A Simple Composite Phenotype Scoring System for Evaluating Mouse Models of Cerebellar Ataxia
Open accessAbstract
We describe a protocol for the rapid and sensitive quantification of disease severity in mouse models of cerebella ataxia. It is derived from previously published phenotype assessments in several disease models, including spinocerebellar ataxias, Huntington s disease and spinobulbar muscular atrophy. Measures include hind limb clasping, ledge test, gait and kyphosis. Each measure is recorded on a scale of 0-3, with a combined total of 0-12 for all four measures. The results effectively discriminate between affected and non-affected individuals, while also quantifying the temporal progression of neurodegenerative disease phenotypes. Measures may be analyzed individually or combined into a composite phenotype score for greater statistical power. The ideal combination of the four described measures will depend upon the disorder in question. We present an example of the protocol used to assess disease severity in a transgenic mouse model of spinocerebellar ataxia type 7 (SCA7).
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Hindlimb clasping reflex impairment was recorded in both PS19 and PS19;ApoeCh mice at 9 mo of age.
“Scoring of hindlimb clasping reflex, a marker of neurodegenerative disease progression, was assessed with impairment recorded in both PS19 and PS19;ApoeCh mice at 9 mo of age (Supp. Figure 13c, d) [26].”
From APOE Christchurch enhances a disease-associated microglial response to plaque but suppresses response to tau pathology (2025) · cites this paper as [26]
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- Chou AH Polyglutamine-expanded ataxin-3 causes cerebellar dysfunction of SCA3 transgenic mice by inducing transcriptional dysregulation Neurobiol Dis 2008 31 1 89 101 18502140
- Thomas PS Jr Loss of endogenous androgen receptor protein accelerates motor neuron degeneration and accentuates androgen insensitivity in a mouse model of X-linked spinal and bulbar muscular atrophy Hum Mol Genet 2006 15 14 2225 2238 16772330
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- Authors
- Guyenet, S. J., Furrer, S. A., Damian, V. M., Baughan, T. D., La Spada, A. R., & Garden, G. A.
- Affiliations
- University of Washington (US)
- Corresponding author
- Garden, Gwenn A.
- Venue
- Journal of Visualized Experiments
- Publisher
- MyJove Corporation
- Published
- 2010-05-21
- Issue
- 39
- ISSN
- 1940-087X (ISSN-L)
- DOI
- 10.3791/1787
- PMC
- PMC3121238
- OpenAlex
- W2049867157
- Cited by
- 403
- References
- 0
- Citations by year
- 2026: 14 · 2025: 51 · 2024: 50 · 2023: 36 · 2022: 37 · 2021: 42 · 2020: 39 · 2019: 30 · 2018: 24 · 2017: 19 · 2016: 12 · 2015: 16 · 2014: 13 · 2013: 9 · 2012: 4
- FWCI
- 2.59
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- Journal of Visualized Experiments (publishedVersion)
- PubMed Central (publishedVersion, cc-by)
- PubMed (publishedVersion)
- Funders
- National Institutes of Health
- National Eye Institute (EY014061, R01EY014997, EY014997, R01EY014061)
- National Institute of Neurological Disorders and Stroke (NS052535, R01NS052535)
- National Institute of Dental and Craniofacial Research (UL1DE019583)
- Topics
- Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Genetic Neurodegenerative Diseases
- Life Sciences › Neuroscience › Cognitive Neuroscience › Motor Control and Adaptation
- Life Sciences › Neuroscience › Neurology › Vestibular and auditory disorders
- Keywords
- cerebellar ataxia, disease severity assessment, mouse model, spinocerebellar ataxia type 7, Huntington's disease, spinal and bulbar muscular atrophy, gait analysis, kyphosis, neurodegenerative disease progression
- MeSH terms
- Animals, Cerebellar Ataxia, Disease Models, Animal, Mice, Transgenic, Phenotype, Adiposity, Mice
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