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GENATLAS PHENOTYPE

last update : 03-01-2019

Symbol	SPG57
Location	3q12.2
Name	spastic paraplegia 57
Corresponding gene	TFG
Main clinical features	early onset of complicated spastic paraplegia, vision problems due to optic atrophy , also wasting of the hand and leg muscles due to an axonal demyelinating sensorimotor neuropathy; in adulthood patients were wheelchair-bound no intellectual disability
Genetic determination	autosomal recessive
Function/system disorder	neuromuscular
Type	disease

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