Ataxia with oculomotor apraxia type 2 (AOA2)
Evidence-based neurology checklist on ataxia with oculomotor apraxia type 2 (aoa2): Genetics This is caused by mutations in the SETX gene on chromosome 9q Oculomotor apraxia Other major clinical features Other movement disorders Other neurological features Magnetic resonance imaging (MRI) brain:…
Genetics
- This is caused by mutations in the SETX gene on chromosome 9q
Oculomotor apraxia
Other major clinical features
Other movement disorders
Other neurological features
Magnetic resonance imaging (MRI) brain: features
Other investigations
References
- Le Ber I, Bouslam N, Rivaud-Péchoux S, et al. Frequency and phenotypic spectrum of ataxia with oculomotor apraxia 2: a clinical and genetic study in 18 patients. Brain 2004; 127:759-767.
- Nanetti L, Cavalieri S, Pensato V, et al. SETX mutations are a frequent genetic cause of juvenile and adult onset cerebellar ataxia with neuropathy and elevated serum alpha-fetoprotein. Orphanet J Rare Dis 2013; 8:123.
- Embiruçu EK, Martyn ML, Schlesinger D, Kok F. Autosomal recessive ataxias: 20 types, and counting. Arq Neuropsiquiatr 2009; 67:1143-1156.
- Anheim M, Monga B, Fleury M, et al. Ataxia with oculomotor apraxia type 2: clinical, biological and genotype/phenotype correlation study of a cohort of 90 patients. Brain 2009; 132:2688-2698.
- Tazir M, Ali-Pacha L, M'Zahem A, et al. Ataxia with oculomotor apraxia type 2: a clinical and genetic study of 19 patients. J Neurol Sci 2009; 278:77-81.
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