Spinocerebellar Ataxia

Spinocerebellar ataxia is a group of inherited neurodegenerative disorders that progressively impair balance, coordination, speech, and, in some forms, cognition and behavior. Disease-causing genetic variants disrupt neuronal function and survival, often affecting cerebellar circuits that coordinate movement and their connections with regions involved in learning, emotion, and decision-making. Behavioral changes may include impaired executive function, mood disturbances, altered social responses, or reduced motor control, depending on the subtype and disease stage. Studying these patterns helps researchers distinguish neurological and behavioral symptoms, evaluate disease progression, and assess potential therapies in patients and experimental models.

Spinocerebellar Ataxia - Related Videos

Research

JoVE Journal - Neuroscience

A Simple Composite Phenotype Scoring System for Evaluating Mouse Models of Cerebellar Ataxia

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Cited by 415 •

2010

We describe a protocol for the rapid and sensitive quantification of disease severity in mouse models of cerebellar ataxia. Measures include hind limb clasping, ledge test, gait and kyphosis. This protocol effectively discriminates between affected and non-affected individuals, and detects the progression of affected individuals over time.

A Simple Alternative to Stereotactic Injection for Brain Specific Knockdown of miRNA

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Cited by 6 •

2015

MicroRNAs play crucial roles in the brain and are potential targets for modeling neuro-degeneration. However, perturbing miRNA levels is challenging due to the short length of miRNA and inaccessibility of the brain tissue. This video presents a method for antagomir design and brain specific delivery using a neuropeptide in mice.

Research

JoVE Journal - Neuroscience
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High-throughput Analysis of Locomotor Behavior in the Drosophila Island Assay

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Cited by 10 •

2017

The island assay is a relatively new, cost-effective assay that can be used to evaluate the basic locomotor behavior of Drosophila melanogaster. This manuscript describes algorithms for automatic data processing and objective quantification of island assay data, making this assay a sensitive, high-throughput readout for large genetic or pharmacological screens.

Minimally-invasive Technique for Injection into Rat Optic Nerve

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Cited by 4 •

2015

Direct injection into the rat optic nerve is useful for regenerative research. We demonstrate a minimally-invasive technique for direct injection into a rat optic nerve that does not involve opening the skull. Using this method, surgical complications are minimized and recovery is more rapid.

Subpial Adeno-associated Virus 9 (AAV9) Vector Delivery in Adult Mice

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Cited by 9 •

2017

The goal of the present study was to develop and validate the potency and safety of spinal adeno-associated virus 9 (AAV9)-mediated gene delivery by using a novel subpial gene delivery technique in adult mice.

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