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GENATLAS PHENOTYPE

last update : 15-05-2019

Symbol	SPG80
Location	9p13.3
Name	spastic paraplegia 80
Corresponding gene	UBAP1
Main clinical features	juvenile-onset neurologic disorder characterized by onset of progressive spasticity and hyperreflexia affecting mainly the lower limbs and resulting in difficulty walking or loss of independent ambulation, sometimes as early as the second decade any patients may have cerebellar signs and mild cognitive impairment, but most have a pure form of the disorder
Genetic determination	autosomal dominant
Function/system disorder	neuromuscular
Type	disease

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