Ataxia with oculomotor apraxia type 4 (AOA4)
Evidence-based neurology checklist on ataxia with oculomotor apraxia type 4 (aoa4): Genetics This is caused by mutations in the PNKP gene The gene product plays a role in DNA repair The transmission is autosomal recessive Affected families are usually Portuguese The mean onset age is 4 years: the…
Genetics
- This is caused by mutations in the PNKP gene
- The gene product plays a role in DNA repair
- The transmission is autosomal recessive
- Affected families are usually Portuguese
- The mean onset age is 4 years: the range is 1-9 years
Clinical features
Investigations
References
- Bras J, Alonso I, Barbot C, et al. Mutations in PNKP cause recessive ataxia with oculomotor apraxia type 4. Am J Hum Genet 2015; 96:474-479.
- Poulton C, Oegema R, Heijsman D, et al. Progressive cerebellar atrophy and polyneuropathy: expanding the spectrum of PNKP mutations. Neurogenetics 2013; 14:43-51.
- Paucar M, Malmgren H, Taylor M, et al. Expanding the ataxia with oculomotor apraxia type 4 phenotype. Neurol Genet 2016; 2:e49.
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