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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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☑️ Email: brainet.neuroscience@gmail.com
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Create: 2025-01-10
Last Update: 2025-02-08 08:04:04

🧠 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: brainet.neuroscience@gmail.com
☑️ Website: theBRAINet.org

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Date: 2025-02-08|

Artem Kliuchnikov and his family fled Ukraine just days before the Russian invasion. 'Wild West' "Markets were cheering this economic recovery and return to strong economic growth, but the cheers will turn to tears if the inflation outbreak pushes businesses and consumers to the brink of recession," he added. Stocks dropped on Friday afternoon, as gains made earlier in the day on hopes for diplomatic progress between Russia and Ukraine turned to losses. Technology stocks were hit particularly hard by higher bond yields. The last couple days have exemplified that uncertainty. On Thursday, news emerged that talks in Turkey between the Russia and Ukraine yielded no positive result. But on Friday, Reuters reported that Russian President Vladimir Putin said there had been some “positive shifts” in talks between the two sides.
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