Ataxia with oculomotor apraxia type 1 (AOA1)

Genetics

• This is caused by mutations in the APTX gene
• The gene en­codes aprataxin
• The transmission is autosomal recessive
• Worse phenotypes are predicted by complete gene deletions
• They are also associated with c.689_690insT homozygous mutations
• The mean onset age is about 7 years: the range is 1-20 years

Movement disorders

Ocular features

Other neurological features

Differential diagnosis

Blood tests

Magnetic resonance imaging (MRI) brain: features

Nerve conduction studies (NCS)

References

1. Embiruçu EK, Martyn ML, Schlesinger D, Kok F. Autosomal recessive ataxias: 20 types, and counting. Arq Neuropsiquiatr 2009; 67:1143-1156.
2. Le Ber I, Moreira MC, Rivaud-Péchoux S, et al. Cerebellar ataxia with oculomotor apraxia type 1: clinical and genetic studies. Brain 2003; 126:2761-2772.
3. Ferrarini M, Squintani G, Cavallaro T, Ferrari S, Rizzuto N, Fabrizi GM. A novel mutation of aprataxin associated with ataxia ocular apraxia type 1: phenotypical and genotypical characterization. J Neurol Sci 2007; 260:219-224.
4. Yoon G, Westmacott R, MacMillan L, et al. Complete deletion of the aprataxin gene: ataxia with oculomotor apraxia type 1 with severe phenotype and cognitive deficit. JNNP 2008; 79:234-236.
5. Yokoseki A, Ishihara T, Koyama A, et al. Genotype-phenotype correlations in early onset ataxia with ocular motor apraxia and hypoalbuminaemia. Brain 2011; 134:1387-1399.
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Related checklists

• Ataxia with oculomotor apraxia type 2 (AOA2)
• Ataxia with oculomotor apraxia type 3 (AOA3)
• Ataxia with oculomotor apraxia type 4 (AOA4)