Ataxia and oculomotor apraxia are seen in ataxia-telangiectasia, type 1 ataxia with oculomotor apraxia, and type 2 ataxia with oculomotor apraxia; however, only type 1 ataxia with oculomotor apraxia is associated with aprataxin gene mutation. We report two American children, a sister and a brother, with type 1 ataxia with oculomotor apraxia and aprataxin gene mutations and briefly review type 1 ataxia with oculomotor apraxia. (J Child Neurol 2005;20:6190—620).
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References
1.
Moreira MC, Barbot C., Tachi N., et al:The gene mutated in ataxia-ocular apraxia 1 encodes the new HIT/Zn-finger protein aprataxin. Nat Genet2001;29:189—193.
2.
Date H., Onodera O., Tanaka H., et al:Early-onset ataxia with ocular motor apraxia and hypoalbuminemia is caused by mutations in a new HIT superfamily gene. Nat Genet2001;29:184—188.
3.
Moreira MC, Barbot C., Tachi N., et al:Homozygosity mapping of Portuguese and Japanese forms of ataxia-oculomotor apraxia to 9p13, and evidence for genetic heterogeneity. Am J Hum Genet2001;68:501—508.
4.
Bomont P., Watanabe M., Gershoni-Barrush R., et al: Homozygosity mapping of spinocerebellar ataxia with cerebellar atrophy and peripheral neuropathy to 9q33-34, and with hearing impairment and optic atrophy to 6p21-23. Eur J Hum Genet2000;8:986—890.
5.
Nemeth AH, Bochukova E., Dunne E., et al: Autosomal recessive cerebellar ataxia with oculomotor apraxia (ataxia-telangiectasia-like syndrome) is linked to chromosome 9q34. Am J Hum Genet2000;67:1320—1326.
6.
Sano Y., Date H., Igarashi S., et al:Aprataxin, the causative protein for EAOH is a nuclear protein with a potential role as a DNA repair protein. Ann Neurol2004 ;55:241—249.
7.
Tranchant C. , Fleury M., Moreira MC, et al:Phenotypic variability of aprataxin gene mutations. Neurology2003;60:868—870.
8.
Le Ber I., Moreira MC, Rivaud-Pechoux S., et al: Cerebellar ataxia with oculomotor apraxia type 1: Clinical and genetic studies. Brain2003;126:2761—2772.
9.
Barbot C., Coutinoho P., Chorao R., et al: Recessive ataxia with ocular a p r a x i a: R e v i e w o f 2 2 P o r t u g u e s e p a t i e n t s . A r c h Neuro l2001;58:201—205.
