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Autosomal dominant spastic paraplegia type 6

Synonym(s) Autosomal dominant familial spastic paraplegia type 3
Prevalence <1 / 1 000 000
Inheritance Autosomal dominant
Age of onset -
  • G11.4
  • C1838192
  • C536866
MedDRA -


Disease definition

Autosomal dominant spastic paraplegia type 6 (SPG6) is a form of hereditary spastic paraplegia which usually presents in late adolescence or early adulthood as a pure phenotype of lower limb spasticity with hyperreflexia and extensor plantar responses, as well as mild bladder disturbances and pes cavus. Rarely, it can present as a complex phenotype with additional manifestations including epilepsy, variable peripheral neuropathy and/or memory impairment. SPG is due to mutations in the NIPA1 gene (15q11.2) encoding the magnesium transporter NIPA1.

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