ARRS 2022 Abstracts

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E2108. Neurogenetics and Imaging of Ataxia
Authors
  1. Aline Camargo; Penn State Health Milton S. Hershey Medical Center
  2. Yilmarie Mercado-Vargas; Penn State Health Milton S. Hershey Medical Center
  3. Sangam Kanekar; Penn State Health Milton S. Hershey Medical Center
Background
Ataxia is defined as “an inability to coordinate voluntary muscular movements.” Clinically, identifying the etiology of ataxia can be a complex task. The etiology of ataxia can be divided into three main categories: acquired, sporadic, and hereditary. Hereditary ataxias are one of the largest groups of hereditary progressive neurodegenerative diseases. MRI should be performed in all patients with suspected hereditary ataxias. Neuroimaging can help to make the correct diagnosis, identify treatable causes, monitor disease progression, and exclude secondary causes.

Educational Goals / Teaching Points
The goals of this exhibit are to discuss the etiology, pathogenesis, and neurogenetics of ataxia; illustrate the neuroimaging patterns in different types of ataxia; and discuss the clinical, genetic, and imaging approach of inherited ataxia.

Key Anatomic/Physiologic Issues and Imaging Findings/Techniques
Ataxia is defined as “an inability to coordinate voluntary muscular movements.” Clinically, identifying the etiology of ataxia can be a complex task. In this exhibit, we focus on highlighting the salient points in distinguishing the various types and causes of ataxia and discuss the neurogenetics of the respective ataxic disorder. Differentiating acquired from inherited forms of ataxia can help determine the expected disease course. Inherited etiologies involve a genetic or biochemical defect that leads to the formation of ataxia. For better understanding, we classify ataxia into autosomal dominant, autosomal recessive, and X-linked ataxia.

Conclusion
This exhibit highlights the imaging findings of the various types and causes of ataxia and discusses the neurogenetics of the respective ataxic disorder.