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GENATLAS PHENOTYPE

last update : 26-06-2012

Symbol	SPOAN
Location	11q13
Name	spastic paraplegia, congenital optic atrophy, neuropathy
Corresponding gene	KLC2
Main clinical features	subnormal vision secondary to apparently nonprogressive congenital optic atrophy onset of progressive spastic paraplegia in infancy, onset of progressive motor and sensory axonal neuropathy in late childhood/early adolescence dysarthria starting in the third decade of life, exacerbated acoustic startle response affected patients are wheelchair bound after 15 years old, with progressive joint contractures and spine deformities.
Genetic determination	autosomal recessive
Function/system disorder	eye
	neurology
Type	disease

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