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Overexpression ofKLC2due to a homozygous deletion in the non-coding region causes SPOAN syndrome

18 Sept 2015

Abstract excerpt

SPOAN syndrome is a neurodegenerative disorder mainly characterized by spastic paraplegia, optic atrophy and neuropathy (SPOAN). Affected patients are wheelchair bound after 15 years old, with progressive joint contractures and spine deformities. SPOAN patients also have sub normal vision secondary to apparently non-progressive congenital optic atrophy. A potential causative gene was mapped at 11q13 ten years...

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PMID: 26385635
DOI: 10.1093/hmg/ddv388

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