We were extremely interested in Dr Koeppen's comments on our article. Our aim was to call the attention of physicians to this well-defined entity and to suggest that the disease could be more frequent than previously thought. This was recently confirmed through molecular studies of recessive ataxia with oculomotor apraxia (AOA).1 The mapping of 7 Portuguese and Japanese families to chromosome 9p13 (AOA1 locus) allowed the identification of the defective gene (APTX) in those families.2 Mutations in theAPTXgene were also identified in Japanese families previously diagnosed as having early-onset cerebellar ataxia with hypoalbuminemia (EOCA-HA). In Japan, the AOA1 gene seems to be the most frequent cause of autosomal recessive ataxia.2,3
Coutinho P, Barbot C. In reply. Arch Neurol. 2002;59(5):874. doi:
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