CAPOS syndrome

Definition:

Cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss (CAPOS) syndrome is a rare autosomal dominant neurological disorder. CAPOS is characterized by a relapsing, early onset cerebellar ataxia, associated with progressive optic atrophy and sensorineural deafness. An identical heterozygous missense mutation in ATP1A3 gene was found in CAPOS patients.

References:

[1]. Michelle K Demos, et al. A novel recurrent mutation in ATP1A3 causes CAPOS syndrome. Orphanet J Rare Dis. 2014 Jan 28;9:15. [Content Brief]

[2]. P Nicolaides, et al. Cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss (CAPOS): a new syndrome. J Med Genet. 1996 May;33(5):419-21. [Content Brief]

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