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GENATLAS PHENOTYPE

last update : 23-05-2017

Symbol	SPG78
Location	1p36.13
Name	spastic paraplegia 78, autosomal recessive
Corresponding gene	ATP13A2
Main clinical features	adult-onset neurodegenerative disorder characterized predominantly by spasticity and muscle weakness of the lower limbs, resulting in gait difficulties and loss of ambulation in some patients also cerebellar signs, such as dysarthria, oculomotor disturbances, and limb and gait ataxia; brain imaging shows cerebellar atrophy; some patients may have mild cognitive impairment or frank dementia
Genetic determination	autosomal recessive
Function/system disorder	neurology
Type	disease

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