Spastic paraplegia, optic atrophy, and neuropathy

Definition:

Spastic paraplegia, optic atrophy, and neuropathy (SPOAN) is an autosomal recessive neurodegenerative disorder clinically defined by congenital optic atrophy, progressive spastic paraplegia with onset in infancy, and progressive motor and sensory axonal neuropathy. A mutation in KLC2 gene has been reported to be responsible for the SPOAN phenotype.

References:

[1]. Lucia I Macedo-Souza, et al. Spastic paraplegia, optic atrophy, and neuropathy is linked to chromosome 11q13. Ann Neurol. 2005 May;57(5):730-7. [Content Brief]

[2]. Lúcia Inês Macedo-Souza, et al. Spastic paraplegia, optic atrophy, and neuropathy: new observations, locus refinement, and exclusion of candidate genes. Ann Hum Genet. 2009 May;73(Pt 3):382-7. [Content Brief]

[3]. Uirá S Melo, et al. Overexpression of KLC2 due to a homozygous deletion in the non-coding region causes SPOAN syndrome. Hum Mol Genet. 2015 Dec 15;24(24):6877-85. [Content Brief]

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