Hereditary ataxias due to repeat expansions
- Hereditary ataxias are caused by repeat expansions in specific genes.
- Testing for repeat expansions is recommended before Next-Generation Sequencing (NGS) analysis.
- Key clinical features often include cerebellar ataxia and other systemic manifestations.
- MRI findings can assist in the diagnosis by revealing characteristic patterns of atrophy.
- The spectrum of spinocerebellar ataxias (SCAs) varies widely in clinical features, onset age, and genetic causes.
- Repeat expansion size influences severity and associated systemic manifestations.
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