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GENATLAS PHENOTYPE

last update : 23-05-2017

Symbol	SPG79
Location	4p13
Name	spastic paraplegia 79, autosomal recessive
Corresponding gene	UCHL1
Main clinical features	progressive neurologic disorder characterized by onset of spastic paraplegia and optic atrophy in the first decade of life; additional features are variable, but may include peripheral neuropathy, cerebellar ataxia, and cognitive impairment brain imaging of all patients showed optic atrophy, and cerebral and cerebellar atrophy in any cases
Genetic determination	autosomal recessive
Function/system disorder	neurology
Type	disease

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