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🧠 Friedreich’s ataxia

🖊 Friedreich’s ataxia (FRDA) is an autosomal recessive spinocerebellar ataxia.
🖊 In the majority of cases the disease is caused by a homozygous GAA triplet repeat expansion in the frataxin (FXN) gene, and the shorter repeat expansion length correlates with age at onset and disease severity.
🖊 The clinical phenotype is broad, but consistently involves gait and limb ataxia, dysarthria and loss of lower limb reflexes.
🖊 Our understanding of the genetic aetiology, pathophysiology and clinical phenotype has progressed significantly.

🔎Source:
- Neurosurgery Board Review, Third Edition
- Friedreich’s ataxia: clinical features, pathogenesis and management

#MCQ #Neuroradiology
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Create: 2025-01-10
Last Update: 2025-02-01 15:57:00

🧠 Friedreich’s ataxia

🖊 Friedreich’s ataxia (FRDA) is an autosomal recessive spinocerebellar ataxia.
🖊 In the majority of cases the disease is caused by a homozygous GAA triplet repeat expansion in the frataxin (FXN) gene, and the shorter repeat expansion length correlates with age at onset and disease severity.
🖊 The clinical phenotype is broad, but consistently involves gait and limb ataxia, dysarthria and loss of lower limb reflexes.
🖊 Our understanding of the genetic aetiology, pathophysiology and clinical phenotype has progressed significantly.

🔎Source:
- Neurosurgery Board Review, Third Edition
- Friedreich’s ataxia: clinical features, pathogenesis and management

#MCQ #Neuroradiology
—————————————
📍 Join us in BRAINet
☑️ Telegram: @theBRAINet
☑️ Instagram: @theBRAINet
☑️ Email: [email protected]
☑️ Website: theBRAINet.org

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Date: 2025-02-01|

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