Ataxia with oculomotor apraxia type 3 (AOA3)
Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .
Ataxia with oculomotor apraxia type 3 (AOA3). This is caused by mutations in the PIK3R5 gene on chromosome 17p. Fully referenced neurology checklist.
Genetics
- This is caused by mutations in the PIK3R5 gene on chromosome 17p
- The transmission is autosomal recessive
- The onset age is after 8 years
Clinical features
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Differential diagnosis
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Investigations
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References
- Votsi C, Christodoulou K. Molecular diagnosis of autosomal recessive cerebellar ataxia in the whole exome/genome sequencing era. World J Neurol 2013; 3:115-128.
- Embiruçu EK, Martyn ML, Schlesinger D, Kok F. Autosomal recessive ataxias: 20 types, and counting. Arq Neuropsiquiatr 2009; 67:1143-1156.
- Al Tassan N, Khalil D, Shinwari J, et al. A missense mutation in PIK3R5 gene in a family with ataxia and oculomotor apraxia. Hum Mutat 2012; 33:351-354.
