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Spinocerebellar Ataxia Type 2: Clinical Presentation, Molecular Mechanisms, and Therapeutic Perspectives

✍ Scribed by Magaña, J. J.; Velázquez-Pérez, L.; Cisneros, B.

Book ID
118230928
Publisher
Springer
Year
2012
Tongue
English
Weight
560 KB
Volume
47
Category
Article
ISSN
0893-7648

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Spinocerebellar ataxia type 2 (SCA2) presenting with ophthalmoplegia and developmental delay in infancy
✍ Moretti, Paolo ;Blazo, Maria ;Garcia, Leonardo ;Armstrong, Dawna ;Lewis, Richard 📂 Article 📅 2004 🏛 John Wiley and Sons 🌐 English ⚖ 136 KB

An 11-year-old boy was evaluated for progressive ataxia, cognitive deterioration, and ophthalmoplegia. The child initially presented with abnormal eye movements at the age of 2 months and was noted to have developmental delay at 6 months. At the age of 7 years, he developed ataxia and cognitive impa