ICAs are a group of rare, complex neurodegenerative diseases primarily affecting the cerebellum

Introduction and Overview

• Definition: ICAs are a group of rare, complex neurodegenerative diseases primarily affecting the cerebellum
• Additional involvement: Often affects spinal cord and peripheral nerves
• Primary clinical feature: Progressive cerebellar syndrome leading to significant disability
• Genetic basis: Over 100 new entities described in the past 25 years, with up to 500 genes related to ataxias

Diagnosis and Initial Approach

Patient Assessment

• Collect detailed family medical history (three generations minimum)
• Perform thorough physical examination
• Exclude acquired causes of cerebellar ataxia

Key Clinical Features

• Gait and balance difficulties
• Cerebellar dysarthria
• Dysmetria (nose-finger and heel-shin tests)
• Hypotonia
• Cerebellar eye signs (often earliest clinical features)

Diagnostic Algorithm

• Determine age at onset and disease progression speed
• Assess functional disability
• Look for associated symptoms and signs

Genetic Testing

• Initial screening for most frequent expansions
• Next-Generation Sequencing (NGS) for comprehensive genetic analysis

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