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References OMIM Gene GeneReviews HGMD HGNC
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