Ataxia with oculomotor apraxia type 1 (AOA1) is an autosomal recessive disease characterized by early-onset and slowly progressive cerebellar ataxia, areflexia, and peripheral neuropathy. Ocular apraxia is most prominent in the early stage of the disease, by contrast, hypoalbuminemia, hypercholesterolemia, and cognitive impairment are present in the adult stage. AOA1 is caused by a mutation in the APTX gene (9p13.3) encoding a nuclear protein named aprataxin, which is involved in the mechanism of DNA repair. We report here the clinical features of 2 patients with mutations in the APTX gene, and we discuss the differential diagnosis with other forms of hereditary ataxia.
Tachi N., Kozuka N., Ohya K., et al. Hereditary cerebellar ataxia with peripheral neuropathy and mental retardation. Eur Neurol. 2000; 43:82-87.
2.
Barbot C., Coutinho P., Chorao R., et al. Recessive ataxia with ocular apraxia: review of 22 Portuguese patients. Arch Neurol. 2001;58:201-205.
3.
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.
4.
Sano Y., Date H., Igarashi S., et al. Aprataxin, the causative protein for EAOH is a nuclear protein with potential role as a DNA repair protein. Ann Neurol. 2004;55:241-249.
5.
Xiao W., Oefner PJDenaturing high-performance liquid chromatography: a review. Hum Mutat. 2001;17:439-474.
6.
Tranchant C. , Fleury M., Moreira MC, et al. Phenotypic variability of aprataxin gene mutations. Neurology. 2003;60:868-870.
7.
Ito A., Yamagata T., Mori M., Momoi MYEarly-onset ataxia with oculomotor apraxia with novel APTX mutation. Pediatr Neurol. 2005;33:53-56.
Wollmann T., Nieto-Barco A., Monton-Alvarex F., Barroso-Ribal J.Friedreich's ataxia: analysis of magnetic resonance imaging parameters and their correlates with cognitive and motor slowing. Rev Neurol . 2004;38:217-222.
10.
Chun HH, Gatti RAAtaxia-telangiectasia, an evolving phenotype. DNA Repair. 2004;3:1187-1196.
11.
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.
12.
Crisciuolo C., Chessa L., Di Giandomenico S., et al. Ataxia with oculomotor apraxia type 2. A clinical, pathologic, and genetic study. Neurology. 2006;66:1207-1210.
13.
Jaeken J., Carchon H.Congenital disorders of glycosylation: a booming chapter of pediatrics. Curr Opin Pediatr. 2004;16: 434-439.
14.
Farina L., Nardocci N., Bruzzone MG, et al. Infantile neuroaxonal dystrophy: neuroradiological studies in 11 patients. Neuroradiology. 1999;41:376-380.
15.
Quinzii CM, Kattah AG, Naini A., et al. Coenzyme Q deficiency and cerebellar ataxia associated with an aprataxin mutation. Neurology. 2005;64:539-541.
